TRPV4 | Belgian Genetic Tests database

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Name:	transient receptor potential cation channel subfamily V member 4
Symbol:	TRPV4
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CMT2C OTRPC4 TRP12 VR-OAC VRL-2 VROAC osmosensitive transient receptor potential channel 4
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	NM_001605.2
ABCD1	100.00	NM_000033.3
ABHD12	98.00	NM_001042472.2
AGTPBP1	99.90	NM_001286715.1
AIFM1	100.00	NM_004208.3
APTX	99.00	NM_175073.2
ARHGEF10	100.00	NM_014629.3
ATL1	100.00	NM_015915.4
ATL3	100.00	NM_015459.4
ATP1A1	100.00	NM_000701.7
ATP7A	100.00	NM_000052.6
BAG3	100.00	NM_004281.3
BICD2	100.00	NM_001003800.1
BSCL2	100.00	NM_032667.6
MTRFR	100.00	NM_152269.4
CCT5	100.00	NM_012073.4
CD59	100.00	NM_203330.2
CNTNAP1	100.00	NM_003632.2
COA7	100.00	NM_023077.2
COX6A1	100.00	NM_004373.3
CTDP1	98.90	NM_004715.4
DCAF8	100.00	NM_015726.3
DCTN1	100.00	NM_004082.4
DGAT2	100.00	NM_032564.4
DHTKD1	99.90	NM_018706.6
DNAJB2	100.00	NM_001039550.1
DNM2	100.00	NM_001005360.2
DNMT1	99.50	NM_001130823.2
DRP2	100.00	NM_001939.2
DST	100.00	NM_001723.5
DYNC1H1	100.00	NM_001376.4
EGR2	100.00	NM_000399.4
ELP1	100.00	NM_003640.4
FBLN5	100.00	NM_006329.3
FBXO38	100.00	NM_030793.4
FGD4	100.00	NM_139241.3
FIG4	100.00	NM_014845.5
FLVCR1	100.00	NM_014053.3
GAN	100.00	NM_022041.3
GARS1	100.00	NM_002047.3
GDAP1	100.00	NM_018972.3
GJB1	100.00	NM_000166.5
GJB3	100.00	NM_024009.2
GLA	100.00	NM_000169.2
GNB4	100.00	NM_021629.3
HADHA	100.00	NM_000182.4
HADHB	100.00	NM_000183.2
HARS1	100.00	NM_002109.5
HINT1	100.00	NM_005340.6
HK1	100.00	NM_000188.2
HOXD10	100.00	NM_002148.3
HSPB1	99.00	NM_001540.4
HSPB3	100.00	NM_006308.2
HSPB8	100.00	NM_014365.2
IARS2	100.00	NM_018060.3
IFRD1	99.90	NM_001550.3
IGHMBP2	100.00	NM_002180.2
INF2	98.80	NM_022489.3
ITPR3	99.50	NM_002224.3
KARS1	100.00	NM_001130089.1
KIF1A	99.90	NM_004321.7
KIF1B	100.00	NM_015074.3
KIF5A	100.00	NM_004984.3
KLHL13	100.00	NM_033495.3
LITAF	100.00	NM_004862.3
LMNA	99.90	NM_170707.3
LRSAM1	100.00	NM_138361.5
MARS1	100.00	NM_004990.3
MCM3AP	100.00	NM_003906.4
MED25	100.00	NM_030973.3
MFN2	100.00	NM_014874.3
MME	100.00	NM_007289.3
MORC2	100.00	NM_001303256.2
MPV17	100.00	NM_002437.4
MPZ	100.00	NM_000530.7
MTMR2	100.00	NM_016156.5
MYH7B	99.80	NM_024729.3
NAGLU	99.70	NM_000263.3
NDRG1	100.00	NM_006096.3
NEFH	99.50	NM_021076.3
NEFL	99.60	NM_006158.4
NGF	100.00	NM_002506.2
NTRK1	100.00	NM_001012331.1
MED12	100.00	NM_015560.2
OPA3	100.00	NM_025136.3
PDK3	100.00	NM_001142386.2
PDXK	100.00	NM_003681.4
PEX1	100.00	NM_000466.2
PEX7	100.00	NM_000288.3
PHYH	100.00	NM_006214.3
PLEKHG5	99.80	NM_020631.4
PMP2	100.00	NM_002677.4
PMP22	100.00	NM_000304.3
PNKP	99.80	NM_007254.3
POLG	100.00	NM_002693.2
PRDM12	90.30	NM_021619.2
PRNP	100.00	NM_000311.4
PRPS1	100.00	NM_002764.3
PRX	100.00	NM_181882.2
RAB7A	100.00	NM_004637.5
REEP1	100.00	NM_022912.2
RETREG1	99.40	NM_001034850.2
SBF1	99.70	NM_002972.3
SBF2	100.00	NM_030962.3
SCN10A	100.00	NM_006514.3
SCN11A	99.80	NM_014139.2
SCN9A	100.00	NM_002977.3
SCO2	100.00	NM_005138.2
SCP2	100.00	NM_002979.4
SEPTIN9	99.20	NM_006640.4
SETX	100.00	NM_015046.6
SGPL1	100.00	NM_003901.3
SH3BP4	100.00	NM_014521.2
SH3TC2	100.00	NM_024577.3
SIGMAR1	100.00	NM_005866.3
SLC12A6	100.00	NM_133647.1
SLC25A46	100.00	NM_138773.3
SLC5A7	100.00	NM_021815.4
SORD	91.20	NM_003104.5
SOX10	100.00	NM_006941.3
SPG11	100.00	NM_025137.3
SPTLC1	100.00	NM_006415.3
SPTLC2	100.00	NM_004863.3
SURF1	99.00	NM_003172.3
TDP1	100.00	NM_018319.3
TECPR2	100.00	NM_014844.4
TFG	100.00	NM_006070.5
TRIM2	100.00	NM_001130067.1
TRPA1	100.00	NM_007332.2
TRPV4	99.90	NM_021625.4
TTR	100.00	NM_000371.3
TUBB3	100.00	NM_006086.3
TWNK	100.00	NM_021830.4
TYMP	100.00	NM_001953.4
VCP	99.90	NM_007126.4
VRK1	100.00	NM_003384.2
WARS1	99.80	NM_004184.3
WNK1	99.80	NM_018979.3
YARS1	100.00	NM_003680.3

Congenital malformation (1721 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AAAS	0.00	0	,
AARS1	0.00	0	,
AASS	0.00	0	,
ABAT	0.00	0	,
ABCA12	0.00	0	,
ABCC6	0.00	0	,
ABCC9	0.00	0	,
ABCD1	0.00	0	,
ABCD3	0.00	0	,
ABCD4	0.00	0	,
ABHD5	0.00	0	,
ABL1	0.00	0	,
ACAD9	0.00	0	,
ACADVL	0.00	0	,
ACAN	0.00	0	,
ACE	0.00	0	,
ACO2	0.00	0	,
ACOX1	0.00	0	,
ACP5	0.00	0	,
ACSL4	0.00	0	,
ACTA1	0.00	0	,
ACTA2	0.00	0	,
ACTB	0.00	0	,
ACTC1	0.00	0	,
ACTG1	0.00	0	,
ACTG2	0.00	0	,
ACVR1	0.00	0	,
ACVR2B	0.00	0	,
ACY1	0.00	0	,
ADAMTS10	0.00	0	,
ADAMTS17	0.00	0	,
ADAMTS3	0.00	0	,
ADAMTSL2	0.00	0	,
ADAR	0.00	0	,
ADGRG1	0.00	0	,
ADGRG6	0.00	0	,
ADNP	0.00	0	,
ADSL	0.00	0	,
AFF3	0.00	0	,
AFF4	0.00	0	,
AGK	0.00	0	,
AGL	0.00	0	,
AGPS	0.00	0	,
AHCY	0.00	0	,
AHDC1	0.00	0	,
AHI1	0.00	0	,
AIFM1	0.00	0	,
AIMP1	0.00	0	,
AIPL1	0.00	0	,
AIRE	0.00	0	,
AKR1C2	0.00	0	,
AKT1	0.00	0	,
AKT2	0.00	0	,
AKT3	0.00	0	,
ALDH18A1	0.00	0	,
ALDH1A3	0.00	0	,
ALDH3A2	0.00	0	,
ALDH7A1	0.00	0	,
ALDOA	0.00	0	,
ALG1	0.00	0	,
ALG11	0.00	0	,
ALG12	0.00	0	,
ALG13	0.00	0	,
ALG2	0.00	0	,
ALG3	0.00	0	,
ALG6	0.00	0	,
ALG8	0.00	0	,
ALG9	0.00	0	,
ALMS1	0.00	0	,
ALOX12B	0.00	0	,
ALOXE3	0.00	0	,
ALPL	0.00	0	,
ALX1	0.00	0	,
ALX3	0.00	0	,
ALX4	0.00	0	,
AMACR	0.00	0	,
AMBRA1	0.00	0	,
AMER1	0.00	0	,
AMMECR1	0.00	0	,
AMPD2	0.00	0	,
AMT	0.00	0	,
ANAPC1	0.00	0	,
ANKH	0.00	0	,
ANKRD11	0.00	0	,
ANKRD26	0.00	0	,
ANKS6	0.00	0	,
ANOS1	0.00	0	,
ANTXR1	0.00	0	,
ANTXR2	0.00	0	,
AP1S2	0.00	0	,
AP3B2	0.00	0	,
AP4B1	0.00	0	,
AP4E1	0.00	0	,
AP4M1	0.00	0	,
AP4S1	0.00	0	,
AR	0.00	0	,
ARCN1	0.00	0	,
ARFGEF2	0.00	0	,
ARHGAP29	0.00	0	,
ARHGAP31	0.00	0	,
ARID1A	0.00	0	,
ARID1B	0.00	0	,
ARID2	0.00	0	,
ARL13B	0.00	0	,
ARL3	0.00	0	,
ARL6	0.00	0	,
ODAD2	0.00	0	,
ARMC9	0.00	0	,
ARSA	0.00	0	,
SLURP1	0.00	0	,
ARSL	0.00	0	,
ARVCF	0.00	0	,
ARX	0.00	0	,
ASAH1	0.00	0	,
ASCC1	0.00	0	,
ASNS	0.00	0	,
ASPA	0.00	0	,
ASPH	0.00	0	,
ASPM	0.00	0	,
ASS1	0.00	0	,
ASXL1	0.00	0	,
ASXL2	0.00	0	,
ASXL3	0.00	0	,
ATAD3A	0.00	0	,
ATIC	0.00	0	,
ATL1	0.00	0	,
ATM	0.00	0	,
ATP1A2	0.00	0	,
ATP6V0A2	0.00	0	,
ATP6V1B2	0.00	0	,
ATP7A	0.00	0	,
ATP8A2	0.00	0	,
ATRX	0.00	0	,
ATXN10	0.00	0	,
AVIL	0.00	0	,
B3GALNT2	0.00	0	,
B3GALT6	0.00	0	,
B3GAT3	0.00	0	,
B3GLCT	0.00	0	,
B4GALT1	0.00	0	,
B4GALT7	0.00	0	,
B4GAT1	0.00	0	,
B9D1	0.00	0	,
B9D2	0.00	0	,
BANF1	0.00	0	,
BBIP1	0.00	0	,
BBS1	0.00	0	,
BBS10	0.00	0	,
BBS12	0.00	0	,
BBS2	0.00	0	,
BBS4	0.00	0	,
BBS5	0.00	0	,
BBS7	0.00	0	,
BBS9	0.00	0	,
BCAP31	0.00	0	,
BCL11A	0.00	0	,
BCL9L	0.00	0	,
BCOR	0.00	0	,
BCS1L	0.00	0	,
BDNF	0.00	0	,
BFSP2	0.00	0	,
BGN	0.00	0	,
BHLHA9	0.00	0	,
BICC1	0.00	0	,
BICD2	0.00	0	,
BIN1	0.00	0	,
BLM	0.00	0	,
BLOC1S6	0.00	0	,
BMP1	0.00	0	,
BMP2	0.00	0	,
BMP4	0.00	0	,
BMPER	0.00	0	,
BMPR1B	0.00	0	,
BNC2	0.00	0	,
BOLA3	0.00	0	,
BPTF	0.00	0	,
BRAF	0.00	0	,
BRAT1	0.00	0	,
BRCA2	0.00	0	,
BRIP1	0.00	0	,
BRPF1	0.00	0	,
BSND	0.00	0	,
BTD	0.00	0	,
BUB1	0.00	0	,
BUB1B	0.00	0	,
BUB3	0.00	0	,
C12ORF57	0.00	0	,
MTRFR	0.00	0	,
C1QBP	0.00	0	,
MFRP	0.00	0	,
C2CD3	0.00	0	,
C4BPA	0.00	0	,
C4BPB	0.00	0	,
CFAP418	0.00	0	,
CA2	0.00	0	,
CA5A	0.00	0	,
CA8	0.00	0	,
CACNA1A	0.00	0	,
CACNA1C	0.00	0	,
CACNA1D	0.00	0	,
CACNA1E	0.00	0	,
CACNA1G	0.00	0	,
CAMK2A	0.00	0	,
CAMK2B	0.00	0	,
CAMTA1	0.00	0	,
CANT1	0.00	0	,
CARS2	0.00	0	,
CASK	0.00	0	,
CASR	0.00	0	,
CBL	0.00	0	,
CC2D2A	0.00	0	,
CCBE1	0.00	0	,
CCDC103	0.00	0	,
ODAD1	0.00	0	,
ODAD3	0.00	0	,
CCDC22	0.00	0	,
CCDC28B	0.00	0	,
CCDC39	0.00	0	,
CCDC40	0.00	0	,
CCDC78	0.00	0	,
CCDC8	0.00	0	,
CCDC88C	0.00	0	,
CCM2	0.00	0	,
CCND2	0.00	0	,
CCNQ	0.00	0	,
CD151	0.00	0	,
CD55	0.00	0	,
CD96	0.00	0	,
CDAN1	0.00	0	,
CDC45	0.00	0	,
CDC6	0.00	0	,
CDC73	0.00	0	,
CDH1	0.00	0	,
CDH11	0.00	0	,
CDH3	0.00	0	,
CDK13	0.00	0	,
CDK5RAP2	0.00	0	,
CDK8	0.00	0	,
CDKL5	0.00	0	,
CDKN1C	0.00	0	,
CDON	0.00	0	,
CDT1	0.00	0	,
CELSR1	0.00	0	,
CENPF	0.00	0	,
CENPJ	0.00	0	,
CEP104	0.00	0	,
CEP120	0.00	0	,
CEP135	0.00	0	,
CEP152	0.00	0	,
CEP164	0.00	0	,
CEP290	0.00	0	,
CEP41	0.00	0	,
CEP55	0.00	0	,
CEP57	0.00	0	,
CEP63	0.00	0	,
CEP83	0.00	0	,
CERS3	0.00	0	,
CERT1	0.00	0	,
CFAP298	0.00	0	,
CFAP300	0.00	0	,
CFAP410	0.00	0	,
CFAP53	0.00	0	,
CFC1	0.00	0	,
CFHR2	0.00	0	,
CFL2	0.00	0	,
CFTR	0.00	0	,
CHAMP1	0.00	0	,
CHAT	0.00	0	,
CHD3	0.00	0	,
CHD4	0.00	0	,
CHD7	0.00	0	,
CHD8	0.00	0	,
CHKB	0.00	0	,
CHMP1A	0.00	0	,
CHN1	0.00	0	,
CHRNA1	0.00	0	,
CHRNA3	0.00	0	,
CHRNB1	0.00	0	,
CHRNB2	0.00	0	,
CHRND	0.00	0	,
CHRNE	0.00	0	,
CHRNG	0.00	0	,
CHST11	0.00	0	,
CHST14	0.00	0	,
CHST3	0.00	0	,
CHSY1	0.00	0	,
CHUK	0.00	0	,
CILK1	0.00	0	,
CIT	0.00	0	,
CKAP2L	0.00	0	,
CLCN7	0.00	0	,
CLCNKB	0.00	0	,
CLDN10	0.00	0	,
CLMP	0.00	0	,
CLP1	0.00	0	,
CLPB	0.00	0	,
CLPP	0.00	0	,
CLTC	0.00	0	,
CNKSR2	0.00	0	,
CNOT1	0.00	0	,
CNOT3	0.00	0	,
CNTN1	0.00	0	,
CNTNAP1	0.00	0	,
CNTNAP2	0.00	0	,
COASY	0.00	0	,
COG1	0.00	0	,
COG4	0.00	0	,
COG5	0.00	0	,
COG6	0.00	0	,
COG7	0.00	0	,
COG8	0.00	0	,
COL10A1	0.00	0	,
COL11A1	0.00	0	,
COL11A2	0.00	0	,
COL12A1	0.00	0	,
COL13A1	0.00	0	,
COL18A1	0.00	0	,
COL1A1	0.00	0	,
COL1A2	0.00	0	,
COL25A1	0.00	0	,
COL2A1	0.00	0	,
COL3A1	0.00	0	,
COL4A1	0.00	0	,
COL4A2	0.00	0	,
COL5A1	0.00	0	,
COL5A2	0.00	0	,
COL6A1	0.00	0	,
COL6A2	0.00	0	,
COL6A3	0.00	0	,
COL7A1	0.00	0	,
COL9A1	0.00	0	,
COL9A2	0.00	0	,
COLEC10	0.00	0	,
COLEC11	0.00	0	,
COLQ	0.00	0	,
COMT	0.00	0	,
COQ4	0.00	0	,
COQ7	0.00	0	,
COQ9	0.00	0	,
COX7B	0.00	0	,
CPAMD8	0.00	0	,
CPLANE1	0.00	0	,
CPT2	0.00	0	,
CRADD	0.00	0	,
CRB1	0.00	0	,
CRB2	0.00	0	,
CREB3L1	0.00	0	,
CREBBP	0.00	0	,
CRELD1	0.00	0	,
CRH	0.00	0	,
CRIPT	0.00	0	,
CRLF1	0.00	0	,
CRPPA	0.00	0	,
CRTAP	0.00	0	,
CRX	0.00	0	,
CRYAA	0.00	0	,
CRYBA1	0.00	0	,
CRYBA4	0.00	0	,
CRYBB1	0.00	0	,
CRYBB2	0.00	0	,
CRYBB3	0.00	0	,
CRYGC	0.00	0	,
CRYGD	0.00	0	,
CSF1R	0.00	0	,
CSNK2A1	0.00	0	,
CSPP1	0.00	0	,
CSTA	0.00	0	,
CTC1	0.00	0	,
CTCF	0.00	0	,
CTDP1	0.00	0	,
CTNNB1	0.00	0	,
CTNND1	0.00	0	,
CTNS	0.00	0	,
CTSA	0.00	0	,
CTSD	0.00	0	,
CTSK	0.00	0	,
CTU2	0.00	0	,
CUL4B	0.00	0	,
CUL7	0.00	0	,
CUX2	0.00	0	,
CWC27	0.00	0	,
CXCR4	0.00	0	,
CYB5R3	0.00	0	,
CYP11A1	0.00	0	,
CYP11B1	0.00	0	,
CYP17A1	0.00	0	,
CYP19A1	0.00	0	,
CYP1B1	0.00	0	,
CYP21A2	0.00	0	,
CYP26B1	0.00	0	,
CYP2U1	0.00	0	,
CYP4F22	0.00	0	,
DACH1	0.00	0	,
DAG1	0.00	0	,
DARS1	0.00	0	,
DCC	0.00	0	,
DCDC2	0.00	0	,
DCHS1	0.00	0	,
DCX	0.00	0	,
DDHD2	0.00	0	,
DDR2	0.00	0	,
DDX11	0.00	0	,
DDX3X	0.00	0	,
DDX59	0.00	0	,
DDX6	0.00	0	,
DENND5A	0.00	0	,
DHCR24	0.00	0	,
DHCR7	0.00	0	,
DHDDS	0.00	0	,
DHFR	0.00	0	,
DHH	0.00	0	,
DHODH	0.00	0	,
DHTKD1	0.00	0	,
DHX30	0.00	0	,
DIAPH1	0.00	0	,
DIS3L2	0.00	0	,
DISP1	0.00	0	,
DKC1	0.00	0	,
DLG4	0.00	0	,
DLL3	0.00	0	,
DLL4	0.00	0	,
DLX5	0.00	0	,
DMD	0.00	0	,
DMPK	0.00	0	,
DNAAF1	0.00	0	,
DNAAF2	0.00	0	,
DNAAF3	0.00	0	,
DNAAF4	0.00	0	,
DNAAF5	0.00	0	,
DNAH11	0.00	0	,
DNAH5	0.00	0	,
DNAH9	0.00	0	,
DNAI1	0.00	0	,
DNAI2	0.00	0	,
DNAJB11	0.00	0	,
DNAJC12	0.00	0	,
DNAJC19	0.00	0	,
DNM1	0.00	0	,
DNM1L	0.00	0	,
DNM2	0.00	0	,
DNMT3A	0.00	0	,
DNMT3B	0.00	0	,
DOCK6	0.00	0	,
DOCK7	0.00	0	,
DOK7	0.00	0	,
DOLK	0.00	0	,
DONSON	0.00	0	,
DPAGT1	0.00	0	,
DPF2	0.00	0	,
DPH1	0.00	0	,
DPM1	0.00	0	,
DPM2	0.00	0	,
DPM3	0.00	0	,
DPYD	0.00	0	,
DRC1	0.00	0	,
DSG1	0.00	0	,
DSP	0.00	0	,
DSTYK	0.00	0	,
DUSP6	0.00	0	,
DVL1	0.00	0	,
DVL3	0.00	0	,
DYM	0.00	0	,
DYNC1H1	0.00	0	,
DYNC2H1	0.00	0	,
DYNC2LI1	0.00	0	,
DYRK1A	0.00	0	,
DZIP1L	0.00	0	,
EARS2	0.00	0	,
EBF3	0.00	0	,
GLB1	0.00	0	,
ECEL1	0.00	0	,
EDA	0.00	0	,
EDN1	0.00	0	,
EDNRA	0.00	0	,
EDNRB	0.00	0	,
EED	0.00	0	,
EEF1A2	0.00	0	,
EFL1	0.00	0	,
EFNB1	0.00	0	,
EFTUD2	0.00	0	,
EGR2	0.00	0	,
EHBP1L1	0.00	0	,
EHHADH	0.00	0	,
EHMT1	0.00	0	,
EIF2AK3	0.00	0	,
EIF2B2	0.00	0	,
EIF2B3	0.00	0	,
EIF2S3	0.00	0	,
EIF4A3	0.00	0	,
EIF5A	0.00	0	,
ELAC2	0.00	0	,
ELMO2	0.00	0	,
ELN	0.00	0	,
ELOVL4	0.00	0	,
EMC1	0.00	0	,
EMD	0.00	0	,
EMG1	0.00	0	,
EML1	0.00	0	,
EMX2	0.00	0	,
ENPP1	0.00	0	,
EOGT	0.00	0	,
EP300	0.00	0	,
EPG5	0.00	0	,
EPHB4	0.00	0	,
EPHX1	0.00	0	,
ERBB3	0.00	0	,
ERCC1	0.00	0	,
ERCC2	0.00	0	,
ERCC3	0.00	0	,
ERCC4	0.00	0	,
ERCC5	0.00	0	,
ERCC6	0.00	0	,
ERCC8	0.00	0	,
ERF	0.00	0	,
ERGIC1	0.00	0	,
ERLIN2	0.00	0	,
ESCO2	0.00	0	,
ESRRG	0.00	0	,
ETFA	0.00	0	,
ETFB	0.00	0	,
ETFDH	0.00	0	,
EVC	0.00	0	,
EVC2	0.00	0	,
EXOC3L2	0.00	0	,
EXOSC3	0.00	0	,
EXPH5	0.00	0	,
EXT1	0.00	0	,
EXT2	0.00	0	,
EXTL3	0.00	0	,
EYA1	0.00	0	,
EZH2	0.00	0	,
FA2H	0.00	0	,
FANCA	0.00	0	,
FAM111A	0.00	0	,
HYCC1	0.00	0	,
FAM20A	0.00	0	,
FAM20C	0.00	0	,
FANCB	0.00	0	,
FANCC	0.00	0	,
FANCD2	0.00	0	,
FANCE	0.00	0	,
FANCF	0.00	0	,
FANCG	0.00	0	,
FANCI	0.00	0	,
FANCL	0.00	0	,
FANCM	0.00	0	,
FAR1	0.00	0	,
FAT4	0.00	0	,
FBLN5	0.00	0	,
FBN1	0.00	0	,
FBN2	0.00	0	,
FBXL4	0.00	0	,
FEZF1	0.00	0	,
FGD1	0.00	0	,
FGF10	0.00	0	,
FGF17	0.00	0	,
FGF3	0.00	0	,
FGF8	0.00	0	,
FGF9	0.00	0	,
FGFR1	0.00	0	,
FGFR2	0.00	0	,
FGFR3	0.00	0	,
FGG	0.00	0	,
FH	0.00	0	,
FIG4	0.00	0	,
FKBP10	0.00	0	,
FKBP14	0.00	0	,
FKBP8	0.00	0	,
FKRP	0.00	0	,
FKTN	0.00	0	,
FLNA	0.00	0	,
FLNB	0.00	0	,
FLNC	0.00	0	,
FLRT3	0.00	0	,
FLT4	0.00	0	,
FLVCR2	0.00	0	,
FMN2	0.00	0	,
FN1	0.00	0	,
FOLR1	0.00	0	,
FOXC1	0.00	0	,
FOXC2	0.00	0	,
FOXE1	0.00	0	,
FOXE3	0.00	0	,
FOXF1	0.00	0	,
FOXG1	0.00	0	,
FOXL2	0.00	0	,
FOXP2	0.00	0	,
FOXP3	0.00	0	,
FOXP4	0.00	0	,
FOXRED1	0.00	0	,
FRAS1	0.00	0	,
FREM1	0.00	0	,
FREM2	0.00	0	,
FRMD4A	0.00	0	,
FRMPD4	0.00	0	,
FRRS1L	0.00	0	,
FTL	0.00	0	,
FTO	0.00	0	,
FUCA1	0.00	0	,
FUT8	0.00	0	,
FUZ	0.00	0	,
FYCO1	0.00	0	,
FZD2	0.00	0	,
FZD5	0.00	0	,
G6PC3	0.00	0	,
GAA	0.00	0	,
GABRA1	0.00	0	,
GABRB2	0.00	0	,
GABRG2	0.00	0	,
GALC	0.00	0	,
GALE	0.00	0	,
GALK1	0.00	0	,
GALNS	0.00	0	,
GALNT2	0.00	0	,
GANAB	0.00	0	,
GATA1	0.00	0	,
GATA2	0.00	0	,
GATA3	0.00	0	,
GATA4	0.00	0	,
GATA6	0.00	0	,
GBA1	0.00	0	,
GBA2	0.00	0	,
GBE1	0.00	0	,
GCDH	0.00	0	,
GCSH	0.00	0	,
GDF1	0.00	0	,
GDF3	0.00	0	,
GDF5	0.00	0	,
GDF6	0.00	0	,
GFAP	0.00	0	,
GFM1	0.00	0	,
GFPT1	0.00	0	,
GFRA1	0.00	0	,
GJA1	0.00	0	,
GJA3	0.00	0	,
GJA8	0.00	0	,
GJB2	0.00	0	,
GJC2	0.00	0	,
GLA	0.00	0	,
GLDC	0.00	0	,
GLDN	0.00	0	,
GLE1	0.00	0	,
GLI1	0.00	0	,
GLI2	0.00	0	,
GLI3	0.00	0	,
GLIS2	0.00	0	,
GLIS3	0.00	0	,
GLUL	0.00	0	,
GM2A	0.00	0	,
GMNN	0.00	0	,
GMPPB	0.00	0	,
GNA11	0.00	0	,
GNA14	0.00	0	,
GNAI1	0.00	0	,
GNAI3	0.00	0	,
GNAO1	0.00	0	,
GNAQ	0.00	0	,
GNAS	0.00	0	,
GNB1	0.00	0	,
GNB5	0.00	0	,
GNPAT	0.00	0	,
GNPTAB	0.00	0	,
GNPTG	0.00	0	,
GNS	0.00	0	,
GORAB	0.00	0	,
GP1BB	0.00	0	,
GPAA1	0.00	0	,
GPC3	0.00	0	,
GPC6	0.00	0	,
GPI	0.00	0	,
GPKOW	0.00	0	,
GPSM2	0.00	0	,
GPX4	0.00	0	,
GREB1L	0.00	0	,
GRHL2	0.00	0	,
GRHL3	0.00	0	,
GRIN1	0.00	0	,
GRIN2B	0.00	0	,
GRIN2D	0.00	0	,
GRIP1	0.00	0	,
GRM1	0.00	0	,
GSC	0.00	0	,
GSPT2	0.00	0	,
GTF2E2	0.00	0	,
GTF2H5	0.00	0	,
GTPBP3	0.00	0	,
GUCY2C	0.00	0	,
GUCY2D	0.00	0	,
GUSB	0.00	0	,
GZF1	0.00	0	,
H1-4	0.00	0	,
H4C3	0.00	0	,
HAAO	0.00	0	,
HADHA	0.00	0	,
HADHB	0.00	0	,
HBA1	0.00	0	,
HBA2	0.00	0	,
HCCS	0.00	0	,
HCFC1	0.00	0	,
HDAC8	0.00	0	,
HES7	0.00	0	,
HESX1	0.00	0	,
HGSNAT	0.00	0	,
HIBCH	0.00	0	,
HIRA	0.00	0	,
HIVEP2	0.00	0	,
HLX	0.00	0	,
HMGA2	0.00	0	,
HMX1	0.00	0	,
HNF1B	0.00	0	,
HNF4A	0.00	0	,
HNRNPH2	0.00	0	,
HNRNPK	0.00	0	,
HOXA1	0.00	0	,
HOXA11	0.00	0	,
HOXA13	0.00	0	,
HOXA2	0.00	0	,
HOXB1	0.00	0	,
HOXD13	0.00	0	,
HPD	0.00	0	,
HPGD	0.00	0	,
HPSE2	0.00	0	,
HR	0.00	0	,
HRAS	0.00	0	,
HS6ST1	0.00	0	,
HSD17B3	0.00	0	,
HSD17B4	0.00	0	,
HSF4	0.00	0	,
HSPD1	0.00	0	,
HSPG2	0.00	0	,
HUWE1	0.00	0	,
HYAL1	0.00	0	,
HYLS1	0.00	0	,
IARS1	0.00	0	,
IBA57	0.00	0	,
IDH1	0.00	0	,
IDS	0.00	0	,
IDUA	0.00	0	,
IER3IP1	0.00	0	,
IFIH1	0.00	0	,
IFITM5	0.00	0	,
IFT122	0.00	0	,
IFT140	0.00	0	,
IFT172	0.00	0	,
IFT27	0.00	0	,
IFT43	0.00	0	,
IFT52	0.00	0	,
IFT80	0.00	0	,
IFT81	0.00	0	,
IFT88	0.00	0	,
IGBP1	0.00	0	,
IGF1	0.00	0	,
IGF1R	0.00	0	,
IGF2	0.00	0	,
IGFBP7	0.00	0	,
IGHMBP2	0.00	0	,
IHH	0.00	0	,
IKBKG	0.00	0	,
IL11RA	0.00	0	,
IL17RD	0.00	0	,
IL1RAPL1	0.00	0	,
BPNT2	0.00	0	,
IMPDH1	0.00	0	,
INCENP	0.00	0	,
INPP5B	0.00	0	,
INPP5E	0.00	0	,
INPP5K	0.00	0	,
INPPL1	0.00	0	,
INSR	0.00	0	,
INTU	0.00	0	,
INVS	0.00	0	,
IQCB1	0.00	0	,
IRF6	0.00	0	,
IRX1	0.00	0	,
IRX5	0.00	0	,
ITCH	0.00	0	,
ITGA3	0.00	0	,
ITGA6	0.00	0	,
ITGA8	0.00	0	,
ITGB4	0.00	0	,
ITPR1	0.00	0	,
JAG1	0.00	0	,
JAM3	0.00	0	,
JUP	0.00	0	,
KANSL1	0.00	0	,
KAT6A	0.00	0	,
KAT6B	0.00	0	,
KATNB1	0.00	0	,
KCNA1	0.00	0	,
KCNC3	0.00	0	,
KCNH1	0.00	0	,
KCNJ1	0.00	0	,
KCNJ13	0.00	0	,
KCNJ2	0.00	0	,
KCNJ6	0.00	0	,
KCNJ8	0.00	0	,
KCNK9	0.00	0	,
KCNQ2	0.00	0	,
KCNQ5	0.00	0	,
KCNT1	0.00	0	,
KCTD1	0.00	0	,
KCTD7	0.00	0	,
KDM1A	0.00	0	,
KDM5C	0.00	0	,
KDM6A	0.00	0	,
KATNIP	0.00	0	,
KIAA0586	0.00	0	,
KIAA0753	0.00	0	,
BLTP1	0.00	0	,
KIDINS220	0.00	0	,
KIF11	0.00	0	,
KIF14	0.00	0	,
KIF1A	0.00	0	,
KIF22	0.00	0	,
KIF26B	0.00	0	,
KIF2A	0.00	0	,
KIF5C	0.00	0	,
KIF7	0.00	0	,
KIFBP	0.00	0	,
KISS1R	0.00	0	,
KLF1	0.00	0	,
KLHL40	0.00	0	,
KLHL41	0.00	0	,
KLHL7	0.00	0	,
KMT2A	0.00	0	,
KMT2B	0.00	0	,
KMT2C	0.00	0	,
KMT2D	0.00	0	,
KNL1	0.00	0	,
KPTN	0.00	0	,
KRAS	0.00	0	,
KRIT1	0.00	0	,
KRT74	0.00	0	,
KYNU	0.00	0	,
L1CAM	0.00	0	,
L2HGDH	0.00	0	,
LAGE3	0.00	0	,
LAMA1	0.00	0	,
LAMA2	0.00	0	,
LAMA5	0.00	0	,
LAMB1	0.00	0	,
LAMC3	0.00	0	,
LARGE1	0.00	0	,
LARP7	0.00	0	,
LARS2	0.00	0	,
LBR	0.00	0	,
LCA5	0.00	0	,
LEMD3	0.00	0	,
LFNG	0.00	0	,
LGI4	0.00	0	,
LHB	0.00	0	,
LHX3	0.00	0	,
LHX4	0.00	0	,
LIAS	0.00	0	,
LIFR	0.00	0	,
LIG4	0.00	0	,
LINS1	0.00	0	,
LIPA	0.00	0	,
LIPN	0.00	0	,
LIPT1	0.00	0	,
LIPT2	0.00	0	,
LMBR1	0.00	0	,
LMBRD1	0.00	0	,
LMNA	0.00	0	,
LMNB1	0.00	0	,
LMNB2	0.00	0	,
LMOD3	0.00	0	,
LMX1B	0.00	0	,
LONP1	0.00	0	,
LRAT	0.00	0	,
LRBA	0.00	0	,
LRIG2	0.00	0	,
LRIT3	0.00	0	,
LRP2	0.00	0	,
CORIN	0.00	0	,
LRP5	0.00	0	,
LRRC56	0.00	0	,
DNAAF11	0.00	0	,
LTBP3	0.00	0	,
LTBP4	0.00	0	,
LYST	0.00	0	,
LZTFL1	0.00	0	,
LZTR1	0.00	0	,
MAB21L2	0.00	0	,
MACF1	0.00	0	,
MAF	0.00	0	,
MAFB	0.00	0	,
MAGEL2	0.00	0	,
MAMLD1	0.00	0	,
MAN1B1	0.00	0	,
MANBA	0.00	0	,
MAP2K1	0.00	0	,
MAP2K2	0.00	0	,
MAP3K1	0.00	0	,
MAP3K20	0.00	0	,
MAP3K7	0.00	0	,
MAPKBP1	0.00	0	,
MAPRE2	0.00	0	,
MASP1	0.00	0	,
MAT1A	0.00	0	,
MATN3	0.00	0	,
MBOAT7	0.00	0	,
MBTPS2	0.00	0	,
MCOLN1	0.00	0	,
MCPH1	0.00	0	,
MDH2	0.00	0	,
MECOM	0.00	0	,
MECP2	0.00	0	,
MECR	0.00	0	,
MED12	0.00	0	,
MED13L	0.00	0	,
MED17	0.00	0	,
MED28	0.00	0	,
MEF2C	0.00	0	,
MEGF10	0.00	0	,
MEGF8	0.00	0	,
MEIS2	0.00	0	,
MEOX1	0.00	0	,
MESD	0.00	0	,
MESP2	0.00	0	,
MFSD2A	0.00	0	,
MGP	0.00	0	,
MID1	0.00	0	,
MIPOL1	0.00	0	,
MITF	0.00	0	,
MKKS	0.00	0	,
MKS1	0.00	0	,
MLC1	0.00	0	,
MLH1	0.00	0	,
MLYCD	0.00	0	,
MMACHC	0.00	0	,
MMADHC	0.00	0	,
MMP13	0.00	0	,
MMP15	0.00	0	,
MMP21	0.00	0	,
MN1	0.00	0	,
MNX1	0.00	0	,
MOCOS	0.00	0	,
MOCS1	0.00	0	,
MOCS2	0.00	0	,
MOGS	0.00	0	,
MPDU1	0.00	0	,
MPDZ	0.00	0	,
MPL	0.00	0	,
MPLKIP	0.00	0	,
MPZ	0.00	0	,
MRAS	0.00	0	,
MRPS16	0.00	0	,
MRPS22	0.00	0	,
MRPS34	0.00	0	,
MSH2	0.00	0	,
MSH6	0.00	0	,
MSL3	0.00	0	,
MSMO1	0.00	0	,
MSTO1	0.00	0	,
MSX1	0.00	0	,
MSX2	0.00	0	,
MTM1	0.00	0	,
MTO1	0.00	0	,
MTOR	0.00	0	,
MUSK	0.00	0	,
MVK	0.00	0	,
MYBPC1	0.00	0	,
MYCN	0.00	0	,
MYH10	0.00	0	,
MYH11	0.00	0	,
MYH2	0.00	0	,
MYH3	0.00	0	,
MYH6	0.00	0	,
MYH7	0.00	0	,
MYH8	0.00	0	,
MYH9	0.00	0	,
MYL1	0.00	0	,
MYL9	0.00	0	,
MYLK	0.00	0	,
MYMK	0.00	0	,
MYO18B	0.00	0	,
MYO9A	0.00	0	,
MYOCD	0.00	0	,
MYOD1	0.00	0	,
MYPN	0.00	0	,
MYRF	0.00	0	,
MYT1	0.00	0	,
NAA10	0.00	0	,
NAA15	0.00	0	,
NACC1	0.00	0	,
NADSYN1	0.00	0	,
NAGA	0.00	0	,
NAGLU	0.00	0	,
NALCN	0.00	0	,
NANS	0.00	0	,
NAXE	0.00	0	,
NBAS	0.00	0	,
NBN	0.00	0	,
NDE1	0.00	0	,
NDP	0.00	0	,
NDUFA10	0.00	0	,
NDUFAF2	0.00	0	,
NDUFAF5	0.00	0	,
NDUFB11	0.00	0	,
NEB	0.00	0	,
NECTIN1	0.00	0	,
NECTIN4	0.00	0	,
NEDD4L	0.00	0	,
NEK1	0.00	0	,
NEK9	0.00	0	,
NEU1	0.00	0	,
NEXMIF	0.00	0	,
NF1	0.00	0	,
NFIX	0.00	0	,
NHEJ1	0.00	0	,
NHP2	0.00	0	,
NHS	0.00	0	,
NIN	0.00	0	,
NIPAL4	0.00	0	,
NIPBL	0.00	0	,
NKX2-5	0.00	0	,
NKX3-2	0.00	0	,
NKX6-2	0.00	0	,
NLRC4	0.00	0	,
RMRP	0.00	0	,
NMNAT1	0.00	0	,
NMNAT2	0.00	0	,
NODAL	0.00	0	,
NOG	0.00	0	,
NONO	0.00	0	,
NOTCH1	0.00	0	,
NOTCH2	0.00	0	,
NOVA2	0.00	0	,
NPC1	0.00	0	,
NPC2	0.00	0	,
NPHP1	0.00	0	,
NPHP3	0.00	0	,
NPHP4	0.00	0	,
NPHS1	0.00	0	,
NPRL2	0.00	0	,
NR0B1	0.00	0	,
NR2F2	0.00	0	,
NR5A1	0.00	0	,
NRAS	0.00	0	,
NRXN2	0.00	0	,
NSD1	0.00	0	,
NSDHL	0.00	0	,
NSMF	0.00	0	,
NSUN2	0.00	0	,
NT5C2	0.00	0	,
NTRK2	0.00	0	,
NUAK2	0.00	0	,
NUBPL	0.00	0	,
NUP107	0.00	0	,
NUP62	0.00	0	,
NUP88	0.00	0	,
NUS1	0.00	0	,
NXN	0.00	0	,
OBSL1	0.00	0	,
OCLN	0.00	0	,
OCRL	0.00	0	,
ODC1	0.00	0	,
OFD1	0.00	0	,
OPHN1	0.00	0	,
SLC25A15	0.00	0	,
ORC4	0.00	0	,
ORC6	0.00	0	,
OSGEP	0.00	0	,
OSTM1	0.00	0	,
OTUD5	0.00	0	,
OTUD6B	0.00	0	,
OTX2	0.00	0	,
P3H1	0.00	0	,
P4HB	0.00	0	,
PACS1	0.00	0	,
PAFAH1B1	0.00	0	,
PAICS	0.00	0	,
PAK3	0.00	0	,
PALB2	0.00	0	,
PAPSS2	0.00	0	,
PARN	0.00	0	,
PAX2	0.00	0	,
PAX3	0.00	0	,
PAX6	0.00	0	,
PAX7	0.00	0	,
PAX8	0.00	0	,
PBX1	0.00	0	,
PCGF2	0.00	0	,
PCNT	0.00	0	,
PCYT1A	0.00	0	,
PDCD10	0.00	0	,
PDE10A	0.00	0	,
PDE4D	0.00	0	,
PDE6D	0.00	0	,
PDE6H	0.00	0	,
PDGFB	0.00	0	,
PDGFRB	0.00	0	,
PDHA1	0.00	0	,
PDHB	0.00	0	,
PDHX	0.00	0	,
PDSS1	0.00	0	,
PDYN	0.00	0	,
PEPD	0.00	0	,
PET100	0.00	0	,
PEX1	0.00	0	,
PEX10	0.00	0	,
PEX11B	0.00	0	,
PEX12	0.00	0	,
PEX13	0.00	0	,
PEX14	0.00	0	,
PEX16	0.00	0	,
PEX19	0.00	0	,
PEX2	0.00	0	,
PEX26	0.00	0	,
PEX3	0.00	0	,
PEX5	0.00	0	,
PEX6	0.00	0	,
PEX7	0.00	0	,
PFKM	0.00	0	,
PGAP1	0.00	0	,
PGAP2	0.00	0	,
PGAP3	0.00	0	,
PGM1	0.00	0	,
PGM3	0.00	0	,
PHF21A	0.00	0	,
PHF6	0.00	0	,
PHF8	0.00	0	,
PHGDH	0.00	0	,
PHIP	0.00	0	,
PHOX2B	0.00	0	,
PIBF1	0.00	0	,
PIEZO1	0.00	0	,
PIEZO2	0.00	0	,
PIGA	0.00	0	,
PIGG	0.00	0	,
PIGL	0.00	0	,
PIGN	0.00	0	,
PIGO	0.00	0	,
PIGS	0.00	0	,
PIGT	0.00	0	,
PIGV	0.00	0	,
PIGY	0.00	0	,
DNAAF6	0.00	0	,
PIK3C2A	0.00	0	,
PIK3CA	0.00	0	,
PIK3R1	0.00	0	,
PIK3R2	0.00	0	,
PIP5K1C	0.00	0	,
PITX1	0.00	0	,
PITX2	0.00	0	,
PITX3	0.00	0	,
PKD1	0.00	0	,
PKD1L1	0.00	0	,
PKD2	0.00	0	,
PKHD1	0.00	0	,
PKLR	0.00	0	,
PLAA	0.00	0	,
PLAG1	0.00	0	,
PLCB1	0.00	0	,
PLCB4	0.00	0	,
PRKCSH	0.00	0	,
PLEC	0.00	0	,
PLG	0.00	0	,
PLK4	0.00	0	,
PLOD1	0.00	0	,
PLOD2	0.00	0	,
PLOD3	0.00	0	,
PLP1	0.00	0	,
PLPBP	0.00	0	,
PMM2	0.00	0	,
PMP22	0.00	0	,
PMS2	0.00	0	,
PNKP	0.00	0	,
PNPLA1	0.00	0	,
POC1A	0.00	0	,
POGZ	0.00	0	,
POLE	0.00	0	,
POLG2	0.00	0	,
POLR1A	0.00	0	,
POLR1B	0.00	0	,
POLR1C	0.00	0	,
POLR1D	0.00	0	,
POLR3A	0.00	0	,
POLR3B	0.00	0	,
POMGNT1	0.00	0	,
POMGNT2	0.00	0	,
POMK	0.00	0	,
POMT1	0.00	0	,
POMT2	0.00	0	,
BVES	0.00	0	,
PORCN	0.00	0	,
POU1F1	0.00	0	,
PPIB	0.00	0	,
PPP1CB	0.00	0	,
PPP2R1A	0.00	0	,
PPP2R5D	0.00	0	,
PPP3CA	0.00	0	,
PQBP1	0.00	0	,
PRDM5	0.00	0	,
PREPL	0.00	0	,
PRG4	0.00	0	,
PRIM1	0.00	0	,
PRKAG2	0.00	0	,
PRKAR1A	0.00	0	,
PRKD1	0.00	0	,
PRMT7	0.00	0	,
PROK2	0.00	0	,
PROKR2	0.00	0	,
PROP1	0.00	0	,
PRR12	0.00	0	,
PRRX1	0.00	0	,
PRSS56	0.00	0	,
PRUNE1	0.00	0	,
PRX	0.00	0	,
PSAP	0.00	0	,
PSAT1	0.00	0	,
PSPH	0.00	0	,
PTCH1	0.00	0	,
PTCH2	0.00	0	,
PTDSS1	0.00	0	,
PTEN	0.00	0	,
PTF1A	0.00	0	,
PTH	0.00	0	,
PTH1R	0.00	0	,
PTHLH	0.00	0	,
PTPN11	0.00	0	,
PTPN14	0.00	0	,
PTS	0.00	0	,
PUF60	0.00	0	,
PXDN	0.00	0	,
PYCR1	0.00	0	,
PYCR2	0.00	0	,
PYGM	0.00	0	,
PYROXD1	0.00	0	,
QARS1	0.00	0	,
QRICH1	0.00	0	,
RAB11A	0.00	0	,
RAB11B	0.00	0	,
RAB18	0.00	0	,
RAB23	0.00	0	,
RAB33B	0.00	0	,
RAB3GAP1	0.00	0	,
RAB3GAP2	0.00	0	,
RAB40AL	0.00	0	,
RAC1	0.00	0	,
NCOA3	0.00	0	,
RAD21	0.00	0	,
RAD51	0.00	0	,
RAD51C	0.00	0	,
RAF1	0.00	0	,
RAI1	0.00	0	,
RAPSN	0.00	0	,
RARB	0.00	0	,
RARS2	0.00	0	,
RASA1	0.00	0	,
PRKRA	0.00	0	,
RB1	0.00	0	,
RBBP8	0.00	0	,
RBM10	0.00	0	,
RBM8A	0.00	0	,
RBPJ	0.00	0	,
RCOR1	0.00	0	,
RD3	0.00	0	,
RDH12	0.00	0	,
RECQL4	0.00	0	,
RELN	0.00	0	,
REN	0.00	0	,
RERE	0.00	0	,
RET	0.00	0	,
RFT1	0.00	0	,
RFX6	0.00	0	,
RIN2	0.00	0	,
RIPK4	0.00	0	,
RIT1	0.00	0	,
RLIM	0.00	0	,
RMND1	0.00	0	,
RNASEH2A	0.00	0	,
RNASEH2B	0.00	0	,
RNASEH2C	0.00	0	,
RNASET2	0.00	0	,
ROBO1	0.00	0	,
ROBO3	0.00	0	,
ROGDI	0.00	0	,
ROR2	0.00	0	,
RORA	0.00	0	,
RPE65	0.00	0	,
RPGRIP1	0.00	0	,
RPGRIP1L	0.00	0	,
RPL15	0.00	0	,
RPL11	0.00	0	,
RPL26	0.00	0	,
RPL35A	0.00	0	,
RPL5	0.00	0	,
RPS10	0.00	0	,
RPS17	0.00	0	,
RPS19	0.00	0	,
RPS23	0.00	0	,
RPS24	0.00	0	,
RPS26	0.00	0	,
RPS6KA3	0.00	0	,
RPS7	0.00	0	,
RRAS	0.00	0	,
RRAS2	0.00	0	,
RRM2B	0.00	0	,
RSPH4A	0.00	0	,
RSPH9	0.00	0	,
RSPRY1	0.00	0	,
RTEL1	0.00	0	,
RTTN	0.00	0	,
RUNX2	0.00	0	,
RXYLT1	0.00	0	,
RYR1	0.00	0	,
SACS	0.00	0	,
SALL1	0.00	0	,
SALL4	0.00	0	,
SAMD9	0.00	0	,
SAMHD1	0.00	0	,
SASS6	0.00	0	,
SATB2	0.00	0	,
SBDS	0.00	0	,
SC5D	0.00	0	,
SCARF2	0.00	0	,
SCLT1	0.00	0	,
SCN1A	0.00	0	,
SCN2A	0.00	0	,
SCN3A	0.00	0	,
SCN4A	0.00	0	,
SCO2	0.00	0	,
SCUBE3	0.00	0	,
SCYL1	0.00	0	,
SDCCAG8	0.00	0	,
SDR9C7	0.00	0	,
SEC23A	0.00	0	,
SEC23B	0.00	0	,
SEC24D	0.00	0	,
SEC61B	0.00	0	,
SECISBP2	0.00	0	,
SELENON	0.00	0	,
SEMA3A	0.00	0	,
SEMA3E	0.00	0	,
SEPSECS	0.00	0	,
SEPTIN9	0.00	0	,
SERPINF1	0.00	0	,
SERPINH1	0.00	0	,
SET	0.00	0	,
SETBP1	0.00	0	,
SETD1A	0.00	0	,
SETD1B	0.00	0	,
SETD2	0.00	0	,
SETD5	0.00	0	,
SF3B4	0.00	0	,
SGCG	0.00	0	,
SGPL1	0.00	0	,
SGSH	0.00	0	,
SH3PXD2B	0.00	0	,
SHANK1	0.00	0	,
SHANK2	0.00	0	,
SHANK3	0.00	0	,
SHH	0.00	0	,
SHOC2	0.00	0	,
SHOX	0.00	0	,
SHROOM3	0.00	0	,
SIK3	0.00	0	,
SIL1	0.00	0	,
SIN3A	0.00	0	,
SIX1	0.00	0	,
SIX3	0.00	0	,
SIX5	0.00	0	,
SIX6	0.00	0	,
HHAT	0.00	0	,
SLC10A7	0.00	0	,
SLC12A1	0.00	0	,
SLC12A6	0.00	0	,
SLC13A5	0.00	0	,
SLC16A2	0.00	0	,
SLC17A5	0.00	0	,
SLC18A3	0.00	0	,
SLC1A2	0.00	0	,
SLC20A1	0.00	0	,
SLC20A2	0.00	0	,
SLC24A4	0.00	0	,
SLC25A19	0.00	0	,
SLC25A20	0.00	0	,
SLC25A22	0.00	0	,
SLC25A24	0.00	0	,
SLC25A38	0.00	0	,
SLC25A4	0.00	0	,
SLC26A2	0.00	0	,
SLC26A3	0.00	0	,
SLC27A4	0.00	0	,
SLC29A3	0.00	0	,
SLC2A10	0.00	0	,
SLC33A1	0.00	0	,
SLC35A1	0.00	0	,
SLC35A2	0.00	0	,
SLC35A3	0.00	0	,
SLC35C1	0.00	0	,
SLC35D1	0.00	0	,
SLC39A8	0.00	0	,
SLC45A1	0.00	0	,
SLC5A7	0.00	0	,
SLC6A17	0.00	0	,
SLC6A8	0.00	0	,
SLC6A9	0.00	0	,
SLC7A9	0.00	0	,
SLC9A6	0.00	0	,
SLIT2	0.00	0	,
SLX4	0.00	0	,
SMAD3	0.00	0	,
SMAD4	0.00	0	,
SMARCA2	0.00	0	,
SMARCA4	0.00	0	,
SMARCB1	0.00	0	,
SMARCC1	0.00	0	,
SMARCE1	0.00	0	,
SMC1A	0.00	0	,
SMC3	0.00	0	,
SMCHD1	0.00	0	,
SMG9	0.00	0	,
SMN1	0.00	0	,
SMO	0.00	0	,
SMOC1	0.00	0	,
SMOC2	0.00	0	,
SMPD1	0.00	0	,
SMPD4	0.00	0	,
SNAP25	0.00	0	,
SNAP29	0.00	0	,
SNIP1	0.00	0	,
SNRPB	0.00	0	,
SNRPE	0.00	0	,
SNX10	0.00	0	,
SNX14	0.00	0	,
SON	0.00	0	,
SOS1	0.00	0	,
SOS2	0.00	0	,
SOST	0.00	0	,
SOX10	0.00	0	,
SOX11	0.00	0	,
SOX17	0.00	0	,
SOX18	0.00	0	,
SOX2	0.00	0	,
SOX3	0.00	0	,
SOX5	0.00	0	,
SOX6	0.00	0	,
SOX9	0.00	0	,
SP7	0.00	0	,
SPAG1	0.00	0	,
SPARC	0.00	0	,
AFG2A	0.00	0	,
SPATA7	0.00	0	,
SPECC1L	0.00	0	,
SPEG	0.00	0	,
SPG11	0.00	0	,
SPRED1	0.00	0	,
SPRY4	0.00	0	,
SPTAN1	0.00	0	,
SRCAP	0.00	0	,
SRD5A2	0.00	0	,
SRD5A3	0.00	0	,
SRGAP1	0.00	0	,
SRP54	0.00	0	,
SRY	0.00	0	,
ST14	0.00	0	,
ST3GAL3	0.00	0	,
ST3GAL5	0.00	0	,
STAC3	0.00	0	,
STAG2	0.00	0	,
STAMBP	0.00	0	,
STAT3	0.00	0	,
STAT5B	0.00	0	,
STIL	0.00	0	,
STRA6	0.00	0	,
STRADA	0.00	0	,
STS	0.00	0	,
STX1B	0.00	0	,
STXBP1	0.00	0	,
SUCLG1	0.00	0	,
SUFU	0.00	0	,
SULT2B1	0.00	0	,
SUMF1	0.00	0	,
SUMO1	0.00	0	,
SUZ12	0.00	0	,
SYN1	0.00	0	,
SYNE1	0.00	0	,
SYNM	0.00	0	,
SZT2	0.00	0	,
TAB2	0.00	0	,
TAC3	0.00	0	,
TACO1	0.00	0	,
TACR3	0.00	0	,
TAF1	0.00	0	,
TAF13	0.00	0	,
TAF2	0.00	0	,
TALDO1	0.00	0	,
TAPT1	0.00	0	,
WWTR1	0.00	0	,
TBC1D1	0.00	0	,
TBC1D20	0.00	0	,
TBC1D23	0.00	0	,
TBC1D24	0.00	0	,
TBC1D32	0.00	0	,
TBCD	0.00	0	,
TBCE	0.00	0	,
TBCK	0.00	0	,
TBL1XR1	0.00	0	,
TBR1	0.00	0	,
TBX1	0.00	0	,
TBX15	0.00	0	,
TBX18	0.00	0	,
TBX20	0.00	0	,
TBX22	0.00	0	,
TBX3	0.00	0	,
TBX4	0.00	0	,
TBX5	0.00	0	,
TBX6	0.00	0	,
TBXT	0.00	0	,
TCF12	0.00	0	,
TCF20	0.00	0	,
TCF4	0.00	0	,
TCIRG1	0.00	0	,
TCOF1	0.00	0	,
DYNLT2B	0.00	0	,
TCTN1	0.00	0	,
TCTN2	0.00	0	,
TCTN3	0.00	0	,
TECPR2	0.00	0	,
TELO2	0.00	0	,
TENM3	0.00	0	,
TENT5A	0.00	0	,
TFAP2A	0.00	0	,
TFAP2B	0.00	0	,
TGDS	0.00	0	,
TGFB2	0.00	0	,
TGFB3	0.00	0	,
TGFBR1	0.00	0	,
TGFBR2	0.00	0	,
TGIF1	0.00	0	,
TGM1	0.00	0	,
THOC2	0.00	0	,
THOC6	0.00	0	,
THRA	0.00	0	,
THSD1	0.00	0	,
TINF2	0.00	0	,
TLL1	0.00	0	,
TMCO1	0.00	0	,
TMEM107	0.00	0	,
TMEM138	0.00	0	,
TMEM165	0.00	0	,
TMEM216	0.00	0	,
TMEM231	0.00	0	,
TMEM237	0.00	0	,
TMEM260	0.00	0	,
TMEM38B	0.00	0	,
TMEM67	0.00	0	,
TMEM70	0.00	0	,
TMEM94	0.00	0	,
TMEM98	0.00	0	,
TMTC3	0.00	0	,
TMX2	0.00	0	,
TNC	0.00	0	,
TNFRSF13B	0.00	0	,
TNNI2	0.00	0	,
TNNT1	0.00	0	,
TNNT3	0.00	0	,
TNXB	0.00	0	,
TOE1	0.00	0	,
TOP3A	0.00	0	,
TOR1A	0.00	0	,
TP53RK	0.00	0	,
TP63	0.00	0	,
TPM2	0.00	0	,
TPM3	0.00	0	,
TRAF3IP1	0.00	0	,
TRAF7	0.00	0	,
TRAIP	0.00	0	,
TRAP1	0.00	0	,
TRAPPC11	0.00	0	,
TRAPPC12	0.00	0	,
TRAPPC9	0.00	0	,
TREM2	0.00	0	,
TREX1	0.00	0	,
TRIM32	0.00	0	,
TRIM37	0.00	0	,
TRIO	0.00	0	,
TRIP11	0.00	0	,
TRIP12	0.00	0	,
TRIP13	0.00	0	,
TRIP4	0.00	0	,
TRMT10A	0.00	0	,
TRMT10C	0.00	0	,
TRPM7	0.00	0	,
TRPS1	0.00	0	,
TRPV3	0.00	0	,
TRPV4	0.00	0	,
TRPV6	0.00	0	,
TSC1	0.00	0	,
TSC2	0.00	0	,
TSEN15	0.00	0	,
TSEN2	0.00	0	,
TSEN34	0.00	0	,
TSEN54	0.00	0	,
TSFM	0.00	0	,
TSPYL1	0.00	0	,
TTC21B	0.00	0	,
ODAD4	0.00	0	,
SKIC3	0.00	0	,
TTC7A	0.00	0	,
TTC8	0.00	0	,
TTC9	0.00	0	,
TTI2	0.00	0	,
TTN	0.00	0	,
TUBA1A	0.00	0	,
TUBA8	0.00	0	,
TUBB	0.00	0	,
TUBB2A	0.00	0	,
TUBB2B	0.00	0	,
TUBB3	0.00	0	,
TUBB4A	0.00	0	,
TUBG1	0.00	0	,
TUBGCP4	0.00	0	,
TUBGCP6	0.00	0	,
TUFM	0.00	0	,
TULP1	0.00	0	,
TWIST1	0.00	0	,
TWIST2	0.00	0	,
TXNDC15	0.00	0	,
TXNL4A	0.00	0	,
TYR	0.00	0	,
TYROBP	0.00	0	,
UBA1	0.00	0	,
UBB	0.00	0	,
UBE2T	0.00	0	,
UBE3A	0.00	0	,
UBE3B	0.00	0	,
UBR1	0.00	0	,
UBTF	0.00	0	,
UFD1	0.00	0	,
UMOD	0.00	0	,
UMPS	0.00	0	,
UNC50	0.00	0	,
UPF3B	0.00	0	,
UPK3A	0.00	0	,
UQCRB	0.00	0	,
UQCRQ	0.00	0	,
UROS	0.00	0	,
USP18	0.00	0	,
USP27X	0.00	0	,
USP9X	0.00	0	,
UTRN	0.00	0	,
VAMP1	0.00	0	,
VANGL1	0.00	0	,
VANGL2	0.00	0	,
VAX1	0.00	0	,
VDR	0.00	0	,
VEGFC	0.00	0	,
VIPAS39	0.00	0	,
VLDLR	0.00	0	,
VMA21	0.00	0	,
VPS13B	0.00	0	,
VPS33B	0.00	0	,
VPS53	0.00	0	,
VRK1	0.00	0	,
VSX2	0.00	0	,
VTI1A	0.00	0	,
VWA2	0.00	0	,
WASHC5	0.00	0	,
WBP11	0.00	0	,
WDPCP	0.00	0	,
WDR11	0.00	0	,
WDR19	0.00	0	,
WDR26	0.00	0	,
DYNC2I2	0.00	0	,
WDR35	0.00	0	,
WDR4	0.00	0	,
DYNC2I1	0.00	0	,
WDR62	0.00	0	,
WDR73	0.00	0	,
WDR81	0.00	0	,
WNT1	0.00	0	,
WNT10B	0.00	0	,
WNT3	0.00	0	,
WNT4	0.00	0	,
WNT5A	0.00	0	,
WNT7A	0.00	0	,
WRAP53	0.00	0	,
WT1	0.00	0	,
WWOX	0.00	0	,
XRCC4	0.00	0	,
XYLT1	0.00	0	,
XYLT2	0.00	0	,
YAP1	0.00	0	,
YWHAG	0.00	0	,
YY1	0.00	0	,
ZBTB18	0.00	0	,
ZBTB20	0.00	0	,
ZC4H2	0.00	0	,
ZDHHC9	0.00	0	,
ZEB2	0.00	0	,
ZFP57	0.00	0	,
ZFPM2	0.00	0	,
ZFYVE26	0.00	0	,
ZIC1	0.00	0	,
ZIC2	0.00	0	,
ZIC3	0.00	0	,
ZMPSTE24	0.00	0	,
ZMYND10	0.00	0	,
ZMYND11	0.00	0	,
ZNF423	0.00	0	,
ZNF462	0.00	0	,
ZNF469	0.00	0	,
ZNF750	0.00	0	,
ZNRF3	0.00	0	,
ZPR1	0.00	0	,
ZSWIM6	0.00	0	,

Congenital malformation gene panel - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
ABAT	100.00	No comment
ABCC6	100.00	No comment
ABCD1	99.93	No comment
ABCD3	99.97	No comment
ABL1	100.00	No comment
ACAN	98.89	No comment
ACO2	100.00	No comment
ACTA1	100.00	No comment
ACTB	100.00	No comment
ACTG1	100.00	No comment
ADAMTS10	99.88	No comment
ADAMTS17	89.95	No comment
ADAMTSL2	100.00	No comment
ADAR	100.00	No comment
ADGRG1	100.00	No comment
ADGRG6	100.00	No comment
ADSL	100.00	No comment
AHI1	100.00	No comment
AIMP1	100.00	No comment
AIPL1	100.00	No comment
AIRE	99.88	No comment
AKR1C2	99.98	No comment
AKT1	100.00	No comment
AKT3	100.00	No comment
ALDH1A3	99.83	No comment
ALMS1	100.00	No comment
ALPL	100.00	No comment
ALX1	100.00	No comment
ALX3	91.36	No comment
ALX4	99.70	No comment
AMER1	100.00	No comment
AMT	99.94	No comment
ANKRD11	100.00	No comment
ANOS1	95.04	No comment
ANTXR2	100.00	No comment
AP4B1	100.00	No comment
AR	99.29	No comment
ARFGEF2	100.00	No comment
ARHGAP31	100.00	No comment
ARID1A	94.64	No comment
ARID1B	92.99	No comment
ARL13B	100.00	No comment
ARL6	100.00	No comment
ARVCF	100.00	No comment
ARX	78.98	No comment
ASNS	100.00	No comment
ASPA	100.00	No comment
ASPM	100.00	No comment
ASS1	99.87	No comment
ASXL1	99.91	No comment
ATL1	100.00	No comment
ATM	100.00	No comment
ATP6V0A2	100.00	No comment
ATP7A	100.00	No comment
ATP8A2	99.93	No comment
ANTXR1	100.00	No comment
ATRX	100.00	No comment
ATXN10	99.48	No comment
B3GALNT2	85.88	No comment
B3GALT6	56.12	No comment
B3GAT3	95.56	No comment
B3GLCT	94.89	No comment
B4GALT1	100.00	No comment
B4GAT1	100.00	No comment
B9D1	100.00	No comment
B9D2	100.00	No comment
BBIP1	100.00	No comment
BBS1	100.00	No comment
BBS10	100.00	No comment
BBS12	100.00	No comment
BBS2	100.00	No comment
BBS4	100.00	No comment
BBS5	100.00	No comment
BBS7	100.00	No comment
BBS9	100.00	No comment
BCOR	100.00	No comment
BDNF	100.00	No comment
BIN1	100.00	No comment
BMP2	100.00	No comment
BMP4	100.00	No comment
BMPER	100.00	No comment
BMPR1B	100.00	No comment
BRAF	96.97	No comment
BRIP1	100.00	No comment
BSND	100.00	No comment
BUB1	100.00	No comment
BUB1B	100.00	No comment
BUB3	100.00	No comment
C12ORF57	100.00	No comment
CACNA1A	98.78	No comment
CASK	100.00	No comment
CBL	100.00	No comment
CC2D2A	98.16	No comment
CCBE1	99.97	No comment
CCDC28B	100.00	No comment
CCM2	99.98	No comment
CCNQ	84.41	No comment
CD96	100.00	No comment
CDC6	100.00	No comment
CDH1	98.08	No comment
CDKL5	100.00	No comment
CDKN1C	62.25	No comment
CDON	100.00	No comment
CDT1	87.95	No comment
CENPF	100.00	No comment
CEP164	100.00	No comment
CEP290	99.99	No comment
CEP41	100.00	No comment
CEP57	100.00	No comment
CFTR	99.91	No comment
CHAT	100.00	No comment
CHD7	100.00	No comment
CHMP1A	100.00	No comment
CHN1	99.56	No comment
CHRNA1	100.00	No comment
CHRNB1	100.00	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	100.00	No comment
CHST14	98.57	No comment
CHST3	100.00	No comment
CHSY1	91.67	No comment
CHUK	99.76	No comment
CKAP2L	100.00	No comment
CNTN1	100.00	No comment
COG4	100.00	No comment
COL11A1	100.00	No comment
COL11A2	99.14	No comment
COL18A1	97.80	No comment
COL1A1	100.00	No comment
COL1A2	99.93	No comment
COL2A1	100.00	No comment
COL3A1	100.00	No comment
COL4A1	98.71	No comment
COL5A1	98.16	No comment
COL5A2	100.00	No comment
COL6A1	100.00	No comment
COL6A2	100.00	No comment
COL6A3	100.00	No comment
COL7A1	100.00	No comment
COL9A1	100.00	No comment
COL9A2	100.00	No comment
COLEC11	100.00	No comment
COMT	100.00	No comment
COX7B	99.88	No comment
CPLANE1	100.00	No comment
CPT2	98.71	No comment
CRB1	100.00	No comment
CREBBP	100.00	No comment
CRH	100.00	No comment
CRLF1	89.81	No comment
CRPPA	95.75	No comment
CRX	100.00	No comment
CSPP1	100.00	No comment
CTCF	100.00	No comment
CTNS	100.00	No comment
CTSA	100.00	No comment
CUL7	99.99	No comment
CXCR4	100.00	No comment
CYP11B1	100.00	No comment
CYP17A1	100.00	No comment
CYP19A1	100.00	No comment
CYP21A2	100.00	No comment
CYP2U1	93.04	No comment
DARS1	100.00	No comment
DCHS1	99.64	No comment
DCX	100.00	No comment
DDHD2	100.00	No comment
DDX59	100.00	No comment
DHCR24	99.96	No comment
DHCR7	100.00	No comment
DHH	99.75	No comment
DHODH	100.00	No comment
DIS3L2	100.00	No comment
DKC1	100.00	No comment
DLL3	78.42	No comment
DLX5	100.00	No comment
DMD	100.00	No comment
DMPK	99.97	No comment
DNM2	99.95	No comment
DOCK6	99.12	No comment
DOK7	98.77	No comment
DPYD	100.00	No comment
DSP	100.00	No comment
DUSP6	100.00	No comment
DYM	100.00	No comment
DYNC1H1	100.00	No comment
DYNC2H1	100.00	No comment
EARS2	100.00	No comment
GLB1	100.00	No comment
ECEL1	95.92	No comment
EFNB1	100.00	No comment
EFTUD2	100.00	No comment
EGR2	100.00	No comment
EHMT1	98.85	No comment
EIF2AK3	95.52	No comment
EIF4A3	100.00	No comment
EMD	99.84	No comment
EMG1	100.00	No comment
EMX2	100.00	No comment
EOGT	100.00	No comment
EP300	100.00	No comment
EPG5	100.00	No comment
EPHX1	100.00	No comment
ERBB3	100.00	No comment
ERCC1	100.00	No comment
ERCC2	100.00	No comment
ERCC4	100.00	No comment
ERCC5	100.00	No comment
ERCC6	100.00	No comment
ERLIN2	100.00	No comment
ESCO2	100.00	No comment
EVC	94.45	No comment
EVC2	99.55	No comment
EYA1	100.00	No comment
EZH2	100.00	No comment
FA2H	92.06	No comment
FAM111A	100.00	No comment
FAM20C	92.71	No comment
FANCA	99.70	No comment
FANCB	100.00	No comment
FANCC	100.00	No comment
FANCD2	100.00	No comment
FANCE	91.17	No comment
FANCF	100.00	No comment
FANCG	100.00	No comment
FANCI	100.00	No comment
FANCL	100.00	No comment
FANCM	100.00	No comment
FAT4	100.00	No comment
FBN1	100.00	No comment
FBN2	100.00	No comment
FBXL4	100.00	No comment
FGD1	99.39	No comment
FGF10	100.00	No comment
FGF17	100.00	No comment
FGF8	94.82	No comment
FGF9	100.00	No comment
FGFR1	100.00	No comment
FGFR2	100.00	No comment
FGFR3	99.26	No comment
FH	100.00	No comment
FIG4	100.00	No comment
FKBP14	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNA	100.00	No comment
FLNB	100.00	No comment
FLRT3	100.00	No comment
FLT4	98.20	No comment
FLVCR2	100.00	No comment
FOXC1	62.57	No comment
FOXC2	72.63	No comment
FOXE1	60.48	No comment
FOXG1	85.88	No comment
FRAS1	100.00	No comment
FREM1	100.00	No comment
FREM2	100.00	No comment
FTO	100.00	No comment
FUZ	100.00	No comment
G6PC3	100.00	No comment
GAA	100.00	No comment
GATA1	100.00	No comment
GATA4	80.69	No comment
GATA6	81.11	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCSH	76.04	No comment
GDF1	58.25	No comment
GDF3	100.00	No comment
GDF5	100.00	No comment
GDF6	93.56	No comment
GFAP	100.00	No comment
GFM1	100.00	No comment
GJA1	100.00	No comment
GJB2	98.23	No comment
GJC2	81.91	No comment
GLDC	96.53	No comment
GLE1	100.00	No comment
GLI2	95.11	No comment
GLI3	100.00	No comment
GLUL	100.00	No comment
GMPPB	100.00	No comment
GNAI3	100.00	No comment
GNAO1	100.00	No comment
GNPTAB	100.00	No comment
GNPTG	94.69	No comment
GP1BB	25.16	No comment
GPC3	100.00	No comment
GPC6	100.00	No comment
GPI	100.00	No comment
GPSM2	100.00	No comment
GRHL3	100.00	No comment
GRIP1	100.00	No comment
GRM1	100.00	No comment
GUCY2D	99.13	No comment
GUSB	100.00	No comment
H19	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HCCS	100.00	No comment
HDAC8	100.00	No comment
HES7	99.67	No comment
HESX1	100.00	No comment
HIBCH	100.00	No comment
HIRA	99.90	No comment
HOXA11	99.40	No comment
HOXA13	73.35	No comment
HOXA2	99.99	No comment
HOXD13	80.52	No comment
HPGD	99.99	No comment
HRAS	100.00	No comment
HS6ST1	98.52	No comment
HSD17B3	100.00	No comment
HSD17B4	100.00	No comment
HSPG2	99.43	No comment
HYAL1	100.00	No comment
HYLS1	100.00	No comment
IBA57	87.89	No comment
CILK1	100.00	No comment
IDS	100.00	No comment
IDUA	88.67	No comment
IER3IP1	99.93	No comment
IFIH1	100.00	No comment
IFT172	100.00	No comment
IFT27	100.00	No comment
IFT80	100.00	No comment
IFT88	99.71	No comment
IGBP1	100.00	No comment
IGHMBP2	100.00	No comment
IHH	99.88	No comment
IKBKG	99.74	No comment
IL10	100.00	No comment
IL17RD	98.31	No comment
IMPDH1	97.72	No comment
INPP5E	99.54	No comment
INSR	97.31	No comment
IQCB1	100.00	No comment
IRF6	100.00	No comment
ITGA6	100.00	No comment
ITGA8	99.96	No comment
ITGB4	98.41	No comment
ITPR1	100.00	No comment
JAG1	99.66	No comment
JAM3	100.00	No comment
JUP	100.00	No comment
KANSL1	100.00	No comment
KAT6B	100.00	No comment
KCNA1	100.00	No comment
KCNJ13	100.00	No comment
KCNJ2	100.00	No comment
KCNK9	100.00	No comment
KCNQ1OT1	0.55	No comment
KCNQ2	99.98	No comment
KCNT1	99.74	No comment
KCTD1	92.53	No comment
KCTD7	97.35	No comment
KDM6A	100.00	No comment
KIF14	100.00	No comment
KIF1A	99.90	No comment
KIFBP	100.00	No comment
KIF2A	98.88	No comment
KIF5C	100.00	No comment
KIF7	96.94	No comment
KISS1R	94.58	No comment
KMT2D	100.00	No comment
KRAS	100.00	No comment
L1CAM	100.00	No comment
L2HGDH	99.96	No comment
LAMA2	100.00	No comment
LAMB1	100.00	No comment
LAMC3	97.51	No comment
LARGE1	100.00	No comment
LBR	100.00	No comment
LCA5	100.00	No comment
LEMD3	100.00	No comment
LFNG	82.55	No comment
LHB	97.18	No comment
LHX3	94.36	No comment
LHX4	100.00	No comment
LIFR	100.00	No comment
LMBR1	100.00	No comment
LMNA	99.93	No comment
LMNB1	97.46	No comment
LMX1B	99.99	No comment
LRAT	100.00	No comment
LRP2	99.96	No comment
CORIN	98.90	No comment
LZTFL1	100.00	No comment
MAP2K1	100.00	No comment
MAP2K2	99.98	No comment
MAP3K1	92.79	No comment
MASP1	100.00	No comment
MBTPS2	100.00	No comment
MCOLN1	97.27	No comment
MCPH1	100.00	No comment
MED12	99.96	No comment
MEF2C	100.00	No comment
MEGF10	100.00	No comment
MEOX1	100.00	No comment
MESP2	100.00	No comment
MFRP	100.00	No comment
MGP	100.00	No comment
MID1	100.00	No comment
MIPOL1	100.00	No comment
MKKS	100.00	No comment
MKS1	100.00	No comment
MLH1	100.00	No comment
MOCS1	99.95	No comment
MOCS2	100.00	No comment
MPL	100.00	No comment
MPZ	100.00	No comment
MRPS16	100.00	No comment
MRPS22	100.00	No comment
MSH2	100.00	No comment
MSH6	100.00	No comment
MSX1	97.41	No comment
MSX2	100.00	No comment
MTM1	100.00	No comment
MUSK	100.00	No comment
MVK	100.00	No comment
MYBPC1	100.00	No comment
MYH2	100.00	No comment
MYH3	100.00	No comment
MYH8	100.00	No comment
MYOD1	98.47	No comment
NAA10	96.03	No comment
NBN	100.00	No comment
NDE1	100.00	No comment
NEB	99.99	No comment
NECTIN1	100.00	No comment
NEK1	100.00	No comment
NEXMIF	100.00	No comment
NF1	99.95	No comment
NFIX	97.15	No comment
NIN	100.00	No comment
NIPBL	99.98	No comment
NKX2-5	100.00	No comment
NMNAT1	100.00	No comment
NODAL	99.99	No comment
NOG	100.00	No comment
NOTCH2	99.76	No comment
NPC1	98.40	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NPHP3	99.87	No comment
NPRL2	100.00	No comment
NR0B1	100.00	No comment
NR5A1	100.00	No comment
NRAS	100.00	No comment
NSD1	100.00	No comment
NSDHL	100.00	No comment
NSMF	95.23	No comment
NT5C2	100.00	No comment
OBSL1	98.31	No comment
OCLN	100.00	No comment
OCRL	99.77	No comment
OFD1	99.88	No comment
OPHN1	100.00	No comment
SLC25A15	100.00	No comment
ORC4	100.00	No comment
ORC6	100.00	No comment
OTX2	100.00	No comment
PAFAH1B1	100.00	No comment
PALB2	100.00	No comment
PAX2	99.80	No comment
PAX3	100.00	No comment
PAX6	100.00	No comment
PCNT	100.00	No comment
PDE4D	98.77	No comment
PDE6D	100.00	No comment
PDGFB	99.77	No comment
PDGFRB	100.00	No comment
PDHA1	98.17	No comment
PDHB	100.00	No comment
PDHX	99.87	No comment
PDYN	100.00	No comment
PEX1	100.00	No comment
PEX10	88.47	No comment
PEX11B	100.00	No comment
PEX12	100.00	No comment
PEX13	100.00	No comment
PEX14	100.00	No comment
PEX16	100.00	No comment
PEX19	100.00	No comment
PEX2	100.00	No comment
PEX26	100.00	No comment
PEX3	100.00	No comment
PEX5	100.00	No comment
PEX6	98.56	No comment
PEX7	91.13	No comment
PFKM	100.00	No comment
PGM1	100.00	No comment
PHF6	100.00	No comment
PHF8	100.00	No comment
PIGA	100.00	No comment
PIGL	100.00	No comment
PIGV	100.00	No comment
PIK3CA	100.00	No comment
PIK3R2	89.19	No comment
PIP5K1C	95.60	No comment
PITX1	98.27	No comment
PKHD1	100.00	No comment
PLCB4	100.00	No comment
PLEC	99.82	No comment
PLK4	100.00	No comment
PLOD1	99.91	No comment
PLOD3	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PMP22	100.00	No comment
PMS2	99.97	No comment
PNKP	100.00	No comment
POLR1C	100.00	No comment
POLR1D	100.00	No comment
POLR3A	100.00	No comment
POMGNT1	100.00	No comment
POMGNT2	100.00	No comment
POMK	100.00	No comment
POMT1	100.00	No comment
POMT2	99.90	No comment
PORCN	100.00	No comment
POU1F1	100.00	No comment
PQBP1	100.00	No comment
PRDM5	100.00	No comment
PRG4	100.00	No comment
PRKAR1A	100.00	No comment
PROK2	98.51	No comment
PROKR2	100.00	No comment
PROP1	100.00	No comment
PRRX1	100.00	No comment
PRSS56	98.00	No comment
PRX	100.00	No comment
PSAP	100.00	No comment
PSAT1	100.00	No comment
PTCH1	98.48	No comment
PTCH2	100.00	No comment
PTDSS1	100.00	No comment
PTEN	98.86	No comment
PTH1R	99.01	No comment
PTPN11	98.80	No comment
PYCR1	100.00	No comment
RAB18	100.00	No comment
RAB23	100.00	No comment
RAB3GAP1	100.00	No comment
RAB3GAP2	100.00	No comment
RAB40AL	100.00	No comment
RAD21	100.00	No comment
RAD51C	100.00	No comment
RAF1	100.00	No comment
RAI1	96.06	No comment
RAPSN	100.00	No comment
PRKRA	90.07	No comment
RB1	99.04	No comment
RBM10	100.00	No comment
RBM8A	100.00	No comment
RD3	100.00	No comment
RDH12	100.00	No comment
RECQL4	96.37	No comment
RELN	99.96	No comment
RET	98.13	No comment
RIPK4	100.00	No comment
RIT1	100.00	No comment
RMND1	100.00	No comment
RMRP	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2B	95.67	No comment
RNASEH2C	100.00	No comment
RNU4ATAC	100.00	No comment
ROR2	98.67	No comment
RPE65	100.00	No comment
RPGRIP1	100.00	No comment
RPGRIP1L	96.45	No comment
RPL11	100.00	No comment
RPL15	86.16	No comment
RPL26	100.00	No comment
RPL35A	100.00	No comment
RPL5	99.37	No comment
RPS10	100.00	No comment
RPS17	98.70	No comment
RPS19	100.00	No comment
RPS24	100.00	No comment
RPS26	100.00	No comment
RPS6KA3	98.71	No comment
RPS7	92.83	No comment
RTTN	100.00	No comment
RUNX2	98.51	No comment
RXYLT1	99.84	No comment
RYR1	98.38	No comment
SACS	99.97	No comment
SALL1	100.00	No comment
SALL4	100.00	No comment
SAMHD1	100.00	No comment
SATB2	100.00	No comment
SC5D	100.00	No comment
SCARF2	86.46	No comment
SDCCAG8	100.00	No comment
SEC23A	100.00	No comment
SELENON	84.04	No comment
SEMA3A	100.00	No comment
SEMA3E	100.00	No comment
SEPSECS	99.97	No comment
SEPTIN9	100.00	No comment
SETBP1	99.99	No comment
SF3B4	100.00	No comment
SH3PXD2B	99.68	No comment
SHANK3	83.99	No comment
SHH	92.83	No comment
SHOC2	100.00	No comment
SIX1	100.00	No comment
SIX3	99.59	No comment
SIX5	88.67	No comment
SIX6	100.00	No comment
HHAT	90.28	No comment
SLC12A1	100.00	No comment
SLC12A6	100.00	No comment
SLC20A2	100.00	No comment
SLC25A19	100.00	No comment
SLC26A2	99.96	No comment
SLC2A10	98.97	No comment
SLC35A2	100.00	No comment
SLC35A3	100.00	No comment
SLC35D1	99.99	No comment
SLC6A8	98.78	No comment
SLC9A6	99.96	No comment
SLX4	100.00	No comment
SMAD3	100.00	No comment
SMAD4	100.00	No comment
SMARCA4	100.00	No comment
SMARCB1	100.00	No comment
SMARCE1	100.00	No comment
SMC1A	100.00	No comment
SMC3	100.00	No comment
SMOC1	99.36	No comment
SNAP29	100.00	No comment
SNIP1	100.00	No comment
SOS1	100.00	No comment
SOX10	96.79	No comment
SOX2	98.05	No comment
SOX3	85.62	No comment
SOX9	97.88	No comment
SPATA7	100.00	No comment
SPECC1L	100.00	No comment
SPG11	100.00	No comment
SPRED1	100.00	No comment
SPRY4	100.00	No comment
SPTAN1	100.00	No comment
SRD5A2	100.00	No comment
SRD5A3	99.42	No comment
SRY	39.13	No comment
STAC3	100.00	No comment
STAMBP	100.00	No comment
STAT3	100.00	No comment
STS	100.00	No comment
STXBP1	100.00	No comment
SUFU	100.00	No comment
SUMO1	99.91	No comment
SYNE1	100.00	No comment
TACR3	100.00	No comment
TAF2	100.00	No comment
WWTR1	99.81	No comment
TBC1D20	93.59	No comment
TBX1	77.39	No comment
TBX15	100.00	No comment
TBX22	100.00	No comment
TBX3	99.88	No comment
TBX4	94.32	No comment
TBX5	100.00	No comment
TBX6	100.00	No comment
TBXT	100.00	No comment
TCF4	100.00	No comment
TCOF1	99.99	No comment
TCTN1	93.78	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TECPR2	100.00	No comment
TFAP2A	100.00	No comment
TGFB3	100.00	No comment
TGFBR1	92.91	No comment
TGFBR2	100.00	No comment
TGIF1	100.00	No comment
TMCO1	100.00	No comment
TMEM138	100.00	No comment
TMEM216	100.00	No comment
TMEM231	100.00	No comment
TMEM237	99.97	No comment
TMEM67	100.00	No comment
TMEM70	100.00	No comment
TNNI2	100.00	No comment
TNNT3	100.00	No comment
TNXB	100.00	No comment
TP63	100.00	No comment
TPM2	100.00	No comment
TRAPPC9	99.98	No comment
TREM2	100.00	No comment
TREX1	100.00	No comment
TRIM32	100.00	No comment
TRIP11	100.00	No comment
TRPV4	100.00	No comment
TSC1	100.00	No comment
TSC2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	94.23	No comment
TSPYL1	100.00	No comment
TTC8	100.00	No comment
TUBA1A	100.00	No comment
TUBA8	100.00	No comment
TUBB2B	100.00	No comment
TUBB3	98.24	No comment
TUBGCP6	100.00	No comment
TULP1	100.00	No comment
TWIST1	70.93	No comment
TYR	100.00	No comment
TYROBP	100.00	No comment
UBA1	100.00	No comment
UBB	100.00	No comment
UBE3A	100.00	No comment
UBE3B	100.00	No comment
UFD1	100.00	No comment
UPF3B	100.00	No comment
UPK3A	99.39	No comment
UTRN	100.00	No comment
VANGL1	100.00	No comment
VANGL2	100.00	No comment
VAX1	89.49	No comment
VIPAS39	100.00	No comment
VPS13B	99.25	No comment
VPS33B	100.00	No comment
VSX2	100.00	No comment
VTI1A	100.00	No comment
WASHC5	100.00	No comment
WDPCP	100.00	No comment
WDR11	100.00	No comment
WDR19	100.00	No comment
DYNC2I2	93.01	No comment
WDR35	100.00	No comment
DYNC2I1	99.86	No comment
WDR62	100.00	No comment
WDR81	99.97	No comment
WNT10B	98.99	No comment
WNT3	100.00	No comment
WNT4	92.22	No comment
WNT5A	99.97	No comment
WNT7A	100.00	No comment
WT1	96.46	No comment
WWOX	100.00	No comment
ZBTB18	100.00	No comment
ZDHHC9	100.00	No comment
ZEB2	100.00	No comment
ZFPM2	99.96	No comment
ZFYVE26	100.00	No comment
ZIC1	100.00	No comment
ZIC2	80.54	No comment
ZMPSTE24	100.00	No comment
ZNF423	100.00	No comment
ZNF469	99.70	No comment

Hereditary spastic paraplegia (188 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCD1	97.56	1
ABHD12	88.30	1
ADAR	100.00	1
AFG3L2	94.80	1
AIMP1	99.97	1
ALDH18A1	100.00	1
ALDH3A2	99.94	1
ALS2	100.00	1
AMPD2	99.90	1
ANG	100.00	1
AP4B1	100.00	1
AP4E1	99.99	1
AP4M1	100.00	1
AP4S1	100.00	1
AP5Z1	99.25	1
ARG1	100.00	1
ARL6IP1	100.00	1
ARSI	99.82	1
ASPA	100.00	1
ATAD3A	97.50	1
ATL1	99.89	1
ATP13A2	98.30	1
AUH	99.24	1
B4GALNT1	99.99	1
BICD2	100.00	1
BSCL2	100.00	1
BTD	100.00	1
MTRFR	100.00	1
C19ORF12	100.00	1
CAPN1	99.97	1
CCT5	99.92	1
CDK16	99.96	1
CLN8	100.00	1
COASY	100.00	1
CPT1C	100.00	1
CSF1R	99.99	1
CTNNB1	100.00	1
CYP27A1	99.38	1
CYP2U1	93.20	1
CYP7B1	100.00	1
DARS1	100.00	1
DARS2	100.00	1
DDHD1	99.58	1
DDHD2	100.00	1
DSTYK	100.00	1
ELOVL4	100.00	1
ENTPD1	100.00	1
ERCC2	98.91	1
ERLIN1	100.00	1
ERLIN2	100.00	1
EXOSC3	100.00	1
FA2H	95.71	1
HYCC1	100.00	1
RETREG1	100.00	1
FARS2	100.00	1
FBXO7	99.78	1
FIG4	100.00	1
FLRT1	100.00	1
FRMD7	99.98	1
FUS	100.00	1
FXN	100.00	1
GAD1	100.00	1
GALC	98.98	1
GAN	98.52	1
GARS1	97.89	1
GART	99.99	1
GBA1	100.00	1
GBA2	100.00	1
GBE1	100.00	1
GCH1	99.71	1
GFAP	100.00	1
GJA1	100.00	1
GJC2	96.72	1
GLB1	100.00	1
GLRX5	100.00	1
GLTP	100.00	1
GPR143	89.09	1
GSN	97.80	1
HACE1	98.41	1
HEPACAM	99.85	1
HEXA	100.00	1
HSD17B4	100.00	1
HSPD1	100.00	1
IBA57	92.01	1
IFIH1	100.00	1
IRF2BPL	97.56	1
KCNJ6	100.00	1
KCNMA1	99.93	1
KDM5C	99.97	1
WASHC5	100.00	1
NEXMIF	100.00	1
KIDINS220	100.00	1
KIF1A	98.74	1
KIF1C	100.00	1
KIF5A	100.00	1
KLC2	100.00	1
KLC4	99.99	1
L1CAM	99.98	1
L2HGDH	99.75	1
LAMB1	100.00	1
LYST	100.00	1
MARS1	100.00	1
MARS2	100.00	1
MFN2	100.00	1
MLC1	98.57	1
MTPAP	99.98	1
NANS	100.00	1
NEFL	100.00	1
NIPA1	92.99	1
NKX6-2	100.00	1
NT5C2	100.00	1
OCLN	100.00	1
MED12	99.98	1
OPA3	100.00	1
OPTN	100.00	1
PANK2	100.00	1
PDYN	100.00	1
PGAP1	100.00	1
PLA2G6	100.00	1
PLP1	100.00	1
PNPLA6	99.95	1
POLR3A	100.00	1
POLR3B	100.00	1
PPP2R2B	100.00	1
PRUNE1	100.00	1
PSEN1	100.00	1
PUM1	100.00	1
RAB18	99.99	1
RAB3GAP1	100.00	1
RAB3GAP2	100.00	1
RARS1	99.99	1
REEP1	100.00	1
REEP2	97.04	1
RNASEH2A	100.00	1
RNASEH2B	94.58	1
RNASEH2C	100.00	1
RNASET2	100.00	1
RTN2	99.44	1
SACS	99.95	1
SAMD9L	100.00	1
SAMHD1	100.00	1
SERAC1	100.00	1
SETX	100.00	1
SIL1	99.95	1
SLC16A2	99.97	1
SLC25A15	100.00	1
SLC25A46	100.00	1
SLC2A1	100.00	1
SLC33A1	100.00	1
SLC39A14	99.94	1
SMPD1	100.00	1
SOD1	100.00	1
SOX10	100.00	1
SPAST	99.83	1
SPG11	100.00	1
SPART	100.00	1
SPG21	100.00	1
SPG7	95.78	1
SPR	99.98	1
SUN1	100.00	1
SYNE1	100.00	1
TANGO2	99.94	1
TARDBP	99.43	1
TBC1D20	95.06	1
TECPR2	99.92	1
TFG	99.98	1
TGM6	100.00	1
TH	98.79	1
TRPV4	100.00	1
TTBK2	100.00	1
TUBB4A	100.00	1
TUBG1	100.00	1
UBQLN2	99.30	1
UCHL1	99.66	1
USP8	100.00	1
VAMP1	100.00	1
VAPB	99.77	1
VCP	97.10	1
VPS13B	100.00	1
VPS37A	99.28	1
WDR45	100.00	1
WDR45B	99.94	1
WDR48	100.00	1
ZC4H2	100.00	1
ZFR	100.00	1
ZFYVE26	100.00	1
ZFYVE27	100.00	1

Intellectual disability (gene panel)

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	97.92	No comment
AAAS	98.73	No comment
AARS1	98.82	No comment
AASS	98.51	No comment
ABAT	99.40	No comment
ABCB11	98.30	No comment
ABCB7	94.65	No comment
ABCC6	99.58	No comment
ABCC8	99.33	No comment
ABCC9	99.05	No comment
ABCD1	97.12	No comment
ABCD4	98.90	No comment
ABCG5	99.05	No comment
ABHD12	89.63	No comment
ABHD5	97.97	No comment
ACAD9	99.34	No comment
ACADM	97.15	No comment
ACADS	99.06	No comment
ACADSB	96.29	No comment
ACADVL	98.55	No comment
ACAN	98.12	No comment
ACAT1	97.08	No comment
ACBD6	99.00	No comment
ACE2	97.24	No comment
ACIN1	99.19	No comment
ACO2	98.76	No comment
ACOT9	97.29	No comment
ACOX1	98.24	No comment
ACP5	98.80	No comment
ACSF3	99.18	No comment
ACSL4	91.66	No comment
ACTA2	99.56	No comment
ACTB	99.87	No comment
ACTG1	99.91	No comment
ACTL6A	99.12	No comment
ACTL6B	98.82	No comment
ACVR1	99.30	No comment
ACY1	99.53	No comment
ADA	98.79	No comment
ADAM22	97.86	No comment
ADAMTS10	99.11	No comment
ADAR	99.42	No comment
ADARB1	93.73	No comment
ADAT3	98.92	No comment
COQ8A	99.33	No comment
ADCY5	95.67	No comment
ADD3	99.21	No comment
ADK	98.15	No comment
ADNP	99.77	No comment
ADPRS	96.99	No comment
ADRA2B	99.24	No comment
ADSL	99.02	No comment
AFF2	96.88	No comment
AFF3	99.12	No comment
AFF4	99.25	No comment
AFG3L2	96.83	No comment
AFP	98.35	No comment
AGA	99.31	No comment
AGK	99.23	No comment
AGL	98.86	No comment
AGMO	98.98	No comment
AGO1	99.33	No comment
AGPAT2	95.70	No comment
AGPS	96.48	No comment
AGT	99.43	No comment
AGTR2	99.44	No comment
AGXT	99.20	No comment
AHCY	99.37	No comment
AHDC1	99.43	No comment
AHI1	98.72	No comment
AIFM1	96.67	No comment
AIMP1	96.59	No comment
AIMP2	99.14	No comment
AIPL1	99.50	No comment
AIRE	97.18	No comment
AK1	99.47	No comment
AK2	98.26	No comment
AKAP17A	96.52	No comment
AKAP4	99.11	No comment
AKAP6	99.28	No comment
AKR1C2	99.87	No comment
AKR1D1	99.35	No comment
AKT1	99.32	No comment
AKT3	97.83	No comment
ALAD	99.59	No comment
ALDH18A1	99.49	No comment
ALDH1A3	96.21	No comment
ALDH3A2	98.54	No comment
ALDH4A1	98.01	No comment
ALDH5A1	96.17	No comment
ALDH7A1	98.33	No comment
ALDOA	99.58	No comment
ALDOB	99.46	No comment
ALG1	99.07	No comment
ALG11	99.81	No comment
ALG12	99.70	No comment
ALG13	91.46	No comment
ALG14	98.86	No comment
ALG2	99.56	No comment
ALG3	98.85	No comment
ALG6	98.37	No comment
ALG8	99.11	No comment
ALG9	98.84	No comment
ALKBH8	98.86	No comment
ALMS1	99.15	No comment
ALPL	99.07	No comment
ALS2	98.98	No comment
ALX1	99.69	No comment
ALX3	96.22	No comment
ALX4	99.35	No comment
AMER1	99.70	No comment
AMPD2	99.08	No comment
AMT	99.79	No comment
ANK3	99.57	No comment
ANKH	99.15	No comment
ANKRD11	97.84	No comment
ANO10	98.75	No comment
ANO3	99.47	No comment
ANO5	99.01	No comment
ANTXR1	94.84	No comment
AP1B1	99.25	No comment
AP1S1	95.66	No comment
AP1S2	85.55	No comment
AP2M1	98.28	No comment
AP3B1	98.71	No comment
AP3B2	98.28	No comment
AP4B1	99.39	No comment
AP4E1	98.53	No comment
AP4M1	99.53	No comment
AP4S1	99.30	No comment
AP5Z1	98.97	No comment
APC2	94.47	No comment
COA8	95.39	No comment
APTX	98.38	No comment
AQP7	99.87	No comment
AR	95.56	No comment
ARCN1	96.22	No comment
ARFGEF2	98.65	No comment
ARG1	99.07	No comment
ARHGAP31	99.50	No comment
ARHGAP36	98.64	No comment
ARHGAP6	95.05	No comment
ARHGEF2	98.52	No comment
ARHGEF4	99.40	No comment
ARHGEF6	94.23	No comment
ARHGEF9	96.24	No comment
ARID1A	97.52	No comment
ARID1B	95.00	No comment
ARID2	99.53	No comment
ARIH1	98.86	No comment
ARL13B	97.87	No comment
ARL14EP	97.37	No comment
ARL6	98.82	No comment
ODAD2	98.89	No comment
ARMC9	98.71	No comment
ARSA	99.35	No comment
ARSB	96.85	No comment
ARSL	94.37	No comment
ARSF	93.30	No comment
ARV1	99.17	No comment
ARX	75.98	No comment
ASAH1	98.03	No comment
ASB12	96.10	No comment
ASCC3	98.81	No comment
ASCL1	98.32	No comment
ASH1L	99.56	No comment
ASL	98.41	No comment
ASMT	92.35	No comment
ASMTL	99.94	No comment
ASNS	99.40	No comment
ASPA	98.77	No comment
ASPH	98.90	No comment
ASPM	99.12	No comment
ASS1	99.61	No comment
ASTN1	99.12	No comment
ASXL1	99.32	No comment
ASXL2	94.54	No comment
ASXL3	98.97	No comment
ATAD1	95.52	No comment
ATAD3A	98.34	No comment
ATCAY	99.48	No comment
ATIC	98.97	No comment
ATL1	96.64	No comment
ATM	98.13	No comment
ATN1	98.73	No comment
ATP13A2	99.25	No comment
ATP1A1	98.42	No comment
ATP1A2	98.77	No comment
ATP1A3	99.51	No comment
ATP2A2	98.83	No comment
ATP2B3	97.71	No comment
ATP6AP1	96.58	No comment
ATP6AP2	93.72	No comment
ATP6V0A2	99.30	No comment
ATP6V1A	97.97	No comment
ATP6V1B1	98.05	No comment
ATP6V1B2	98.55	No comment
ATP7A	96.22	No comment
ATP7B	99.52	No comment
ATP8A2	99.53	No comment
ATP8B1	98.96	No comment
ATR	98.89	No comment
ATRX	95.60	No comment
ATXN1	99.33	No comment
ATXN10	98.33	No comment
ATXN2	91.35	No comment
ATXN3	98.93	No comment
ATXN3L	99.08	No comment
ATXN7	95.21	No comment
AUH	99.00	No comment
AUTS2	98.29	No comment
AVP	86.48	No comment
AVPR2	99.55	No comment
AWAT2	98.86	No comment
B3GALNT2	96.88	No comment
B3GALT6	74.99	No comment
B3GLCT	95.44	No comment
B4GALNT1	98.73	No comment
B4GALT1	97.25	No comment
B4GALT7	93.89	No comment
B9D1	98.92	No comment
BBS1	99.26	No comment
BBS10	99.67	No comment
BBS12	99.69	No comment
BBS2	98.90	No comment
BBS4	98.91	No comment
BBS5	98.35	No comment
BBS7	99.11	No comment
BBS9	98.84	No comment
BCAP31	92.90	No comment
BCKDHA	99.19	No comment
BCKDHB	99.14	No comment
BCKDK	98.03	No comment
BCL11A	99.29	No comment
BCL11B	95.65	No comment
BCOR	98.20	No comment
BCORL1	98.79	No comment
BCS1L	99.07	No comment
BDP1	99.48	No comment
BEAN1	99.42	No comment
BFSP2	99.16	No comment
BGN	97.15	No comment
BHLHA9	83.99	No comment
BICD2	99.34	No comment
BIN1	99.27	No comment
BLM	97.69	No comment
BMP15	94.45	No comment
BMP4	99.03	No comment
BMPER	99.17	No comment
BMPR1B	99.45	No comment
BOLA3	98.55	No comment
BPIFB6	98.75	No comment
BPTF	96.21	No comment
BRAF	97.62	No comment
BRAT1	98.61	No comment
BRCA1	99.65	No comment
BRCA2	98.74	No comment
BRD4	90.53	No comment
BRF1	97.49	No comment
BRIP1	98.87	No comment
BRPF1	99.09	No comment
BRSK2	97.89	No comment
BRWD3	96.19	No comment
BSCL2	99.32	No comment
BSND	99.48	No comment
BTD	99.63	No comment
BTK	96.82	No comment
BUB1B	98.89	No comment
C12ORF4	98.72	No comment
C12ORF57	99.66	No comment
MTRFR	98.21	No comment
CCDC32	98.00	No comment
VPS35L	98.65	No comment
C19ORF12	98.79	No comment
C2CD3	98.92	No comment
PCARE	98.64	No comment
DIPK2A	99.10	No comment
ODAPH	99.74	No comment
CPLANE1	98.94	No comment
CFAP418	98.78	No comment
C9ORF72	98.10	No comment
CA2	99.35	No comment
CA5A	99.23	No comment
CA8	99.30	No comment
CACNA1A	98.14	No comment
CACNA1B	96.02	No comment
CACNA1C	99.14	No comment
CACNA1D	99.31	No comment
CACNA1E	99.29	No comment
CACNA1F	97.17	No comment
CACNA1G	99.06	No comment
CACNA1H	98.12	No comment
CACNA1S	98.76	No comment
CACNA2D2	95.24	No comment
CACNA2D3	98.17	No comment
CACNB4	99.35	No comment
CACNG2	99.57	No comment
CAD	99.05	No comment
CAMK2A	99.63	No comment
CAMK2B	97.56	No comment
CAMK2G	96.97	No comment
CAMTA1	99.08	No comment
CANT1	98.12	No comment
CAP1	99.44	No comment
CAPN10	99.27	No comment
CAPRIN1	99.09	No comment
CAPZA2	96.21	No comment
CARS1	99.79	No comment
CARS2	96.59	No comment
KNL1	96.88	No comment
CASK	95.86	No comment
CASP2	99.05	No comment
CASR	99.36	No comment
CBL	98.79	No comment
CBS	99.88	No comment
CC2D1A	98.90	No comment
CC2D2A	98.66	No comment
CCBE1	98.76	No comment
CCDC103	99.47	No comment
ODAD1	99.10	No comment
CCDC115	99.59	No comment
CCDC22	97.58	No comment
SVBP	99.76	No comment
CCDC39	98.58	No comment
CCDC40	98.68	No comment
CEP83	98.29	No comment
CCDC47	98.08	No comment
CCDC65	99.18	No comment
CCDC78	99.72	No comment
CCDC8	99.54	No comment
CCDC88A	98.66	No comment
CCDC88C	99.06	No comment
CCNA2	99.24	No comment
CCNB3	99.08	No comment
CCND2	98.80	No comment
CCNO	99.50	No comment
CCT5	98.48	No comment
CD96	98.95	No comment
CD99	99.96	No comment
CDC42	98.38	No comment
CDC42BPB	99.25	No comment
CDC45	99.38	No comment
CDC6	98.74	No comment
CDH11	99.46	No comment
CDH15	99.37	No comment
CDH2	99.12	No comment
CDH23	98.80	No comment
CDH3	99.16	No comment
CDK10	99.78	No comment
CDK13	95.98	No comment
CDK16	98.07	No comment
CDK19	99.08	No comment
CDK5R1	99.67	No comment
CDK5RAP2	99.35	No comment
CDK8	96.11	No comment
CDKL5	93.83	No comment
CDKN1C	86.67	No comment
CDON	98.33	No comment
CDT1	91.10	No comment
CENPF	98.91	No comment
CENPJ	99.50	No comment
CEP104	99.17	No comment
CEP135	96.95	No comment
CEP152	98.51	No comment
CEP290	98.38	No comment
CEP41	98.54	No comment
CEP55	99.06	No comment
CEP57	98.39	No comment
CEP63	98.63	No comment
CFP	97.99	No comment
CHAMP1	99.90	No comment
CHD2	98.65	No comment
CHD3	98.02	No comment
CHD4	99.40	No comment
CHD7	99.13	No comment
CHD8	99.13	No comment
CHKB	97.91	No comment
DDX11	98.90	No comment
CHM	89.56	No comment
CHMP1A	98.78	No comment
CHRDL1	97.84	No comment
CHRNA2	99.41	No comment
CHRNA4	98.72	No comment
CHRNB2	99.57	No comment
CHRNG	99.02	No comment
CHST14	98.06	No comment
CHST3	99.63	No comment
CHSY1	93.60	No comment
CHUK	98.09	No comment
CIB2	98.54	No comment
CIC	98.17	No comment
CISD2	97.44	No comment
CIT	99.14	No comment
CKAP2L	99.24	No comment
CLCN2	99.53	No comment
CLCN4	98.32	No comment
CLCN5	98.19	No comment
CLCN7	97.43	No comment
CLCNKA	99.53	No comment
CLCNKB	99.55	No comment
CLDN19	98.68	No comment
CLIC2	95.82	No comment
CLN3	99.63	No comment
CLN5	98.95	No comment
CLN6	94.08	No comment
CLN8	99.98	No comment
CLP1	99.53	No comment
CLPB	98.72	No comment
CLPP	98.67	No comment
CLTC	98.69	No comment
CMC4	96.87	No comment
CNKSR1	99.49	No comment
CNKSR2	95.65	No comment
CNNM2	99.22	No comment
CNOT1	98.98	No comment
CNOT2	99.08	No comment
CNOT3	98.24	No comment
CNTN3	99.26	No comment
CNTN4	99.15	No comment
CNTNAP2	99.12	No comment
COA3	99.34	No comment
COA5	99.73	No comment
COASY	98.90	No comment
COG1	99.22	No comment
COG4	99.26	No comment
COG5	98.95	No comment
COG6	98.53	No comment
COG7	99.10	No comment
COG8	99.58	No comment
COL10A1	98.73	No comment
COL11A1	99.16	No comment
COL11A2	99.40	No comment
COL18A1	98.80	No comment
COL1A1	98.56	No comment
COL1A2	99.53	No comment
COL25A1	99.68	No comment
COL2A1	99.63	No comment
COL4A1	98.90	No comment
COL4A2	98.81	No comment
COL4A3	98.60	No comment
CERT1	98.80	No comment
COL4A4	99.18	No comment
COL4A6	96.60	No comment
COL6A1	99.30	No comment
COL6A3	99.58	No comment
COL9A1	99.37	No comment
COL9A2	99.12	No comment
COL9A3	95.16	No comment
COLEC10	98.66	No comment
COLEC11	99.77	No comment
COMP	99.30	No comment
COQ2	97.65	No comment
COQ4	98.65	No comment
COQ5	98.41	No comment
COQ9	98.96	No comment
COX10	99.59	No comment
COX14	97.55	No comment
COX15	99.27	No comment
COX6B1	99.22	No comment
COX7B	98.33	No comment
CP	98.56	No comment
CPA6	99.18	No comment
HOMER2	98.16	No comment
CPS1	99.26	No comment
CPXCR1	98.61	No comment
CRADD	98.71	No comment
CRB1	99.41	No comment
CRB2	98.33	No comment
CRBN	99.00	No comment
CREBBP	99.20	No comment
CRLF2	96.34	No comment
CRX	99.30	No comment
CRYAA	99.93	No comment
CRYBA1	99.47	No comment
CRYBA4	99.30	No comment
CRYBB1	99.71	No comment
CRYBB2	99.21	No comment
CRYBB3	97.71	No comment
CRYGC	99.70	No comment
CRYGD	99.70	No comment
CSDE1	99.37	No comment
CSF1R	98.97	No comment
CSF2RA	88.66	No comment
CSNK1G1	98.84	No comment
CSNK2A1	99.27	No comment
CSNK2B	99.56	No comment
CSPP1	98.55	No comment
CSTB	99.72	No comment
CSTF2	95.94	No comment
CTBP1	96.89	No comment
CTC1	99.15	No comment
CTCF	98.88	No comment
CTDP1	96.55	No comment
CCN2	97.14	No comment
CTNNA2	98.80	No comment
CTNNB1	99.57	No comment
CTNND2	94.20	No comment
CTNS	99.36	No comment
CTPS2	96.99	No comment
CTSA	99.45	No comment
CTSD	99.18	No comment
CTSF	96.71	No comment
CTSK	99.73	No comment
CTTNBP2	99.25	No comment
CTU2	98.59	No comment
CUL3	98.83	No comment
CUL4B	92.06	No comment
CUL7	99.50	No comment
CUX1	96.61	No comment
CUX2	98.80	No comment
CWC27	97.65	No comment
CWF19L1	98.83	No comment
CFAP47	93.78	No comment
STEEP1	92.87	No comment
CXorf58	94.93	No comment
CYB5R3	97.94	No comment
CYC1	91.11	No comment
CYFIP2	98.67	No comment
CYP1B1	99.46	No comment
CYP27A1	99.02	No comment
CYP2U1	96.42	No comment
CYP7B1	97.88	No comment
D2HGDH	99.43	No comment
DAB1	98.49	No comment
DACT1	97.23	No comment
DAG1	99.84	No comment
DARS1	97.83	No comment
DARS2	98.51	No comment
DBT	98.43	No comment
DCAF17	98.20	No comment
DCC	99.25	No comment
DCHS1	99.42	No comment
DCHS2	96.72	No comment
DCPS	99.51	No comment
DCTN1	99.19	No comment
DCX	97.69	No comment
DDB2	99.44	No comment
DDC	98.92	No comment
DDHD1	98.96	No comment
DDHD2	97.51	No comment
DDOST	99.21	No comment
DDR2	98.02	No comment
INTS6L	94.69	No comment
DDX3X	94.86	No comment
DDX53	99.21	No comment
RIGI	98.54	No comment
DDX59	98.74	No comment
DDX6	99.28	No comment
DEAF1	94.52	No comment
DECR1	98.30	No comment
DEGS1	98.48	No comment
DENND5A	98.76	No comment
DEPDC5	98.88	No comment
DGKH	97.01	No comment
DHCR24	99.02	No comment
DHCR7	99.47	No comment
DHDDS	97.02	No comment
DHFR	96.94	No comment
DHODH	99.05	No comment
DHPS	98.61	No comment
DHRSX	91.20	No comment
DHTKD1	98.94	No comment
DHX30	98.83	No comment
DIAPH1	91.23	No comment
DIAPH2	87.29	No comment
DIP2B	98.90	No comment
DIS3L2	98.91	No comment
DKC1	93.86	No comment
DLAT	98.39	No comment
DLD	98.88	No comment
DLG1	98.14	No comment
DLG2	99.29	No comment
DLG3	97.25	No comment
DLG4	99.13	No comment
DLGAP2	99.74	No comment
DLL3	86.64	No comment
DLL4	99.36	No comment
DMD	96.45	No comment
DMP1	99.65	No comment
DMPK	99.32	No comment
DMXL2	98.36	No comment
DNA2	98.22	No comment
DNAAF3	98.65	No comment
DNAJC12	99.66	No comment
DNAJC19	96.91	No comment
DNAJC3	96.14	No comment
DNM1	97.82	No comment
DNM1L	98.63	No comment
DNM2	98.34	No comment
DNMT1	98.21	No comment
DNMT3A	99.20	No comment
DNMT3B	99.29	No comment
DOCK11	92.03	No comment
DOCK3	98.52	No comment
DOCK6	99.05	No comment
DOCK7	98.51	No comment
DOCK8	99.20	No comment
DOLK	99.80	No comment
DONSON	96.21	No comment
DPAGT1	99.38	No comment
DPF1	98.48	No comment
DPF2	99.34	No comment
DPF3	99.50	No comment
DPH1	99.38	No comment
DPM1	99.42	No comment
DPM2	99.20	No comment
DPM3	99.69	No comment
DPP6	92.06	No comment
DPYD	99.12	No comment
DRD2	99.36	No comment
DSCAM	98.89	No comment
VPS26C	99.43	No comment
DSPP	98.82	No comment
DST	98.99	No comment
DSTYK	99.35	No comment
DVL1	99.68	No comment
DVL3	98.80	No comment
DYM	97.55	No comment
DYNC1H1	99.37	No comment
DYNC1I2	98.87	No comment
DYNC2H1	97.67	No comment
DYRK1A	99.47	No comment
DNAAF4	98.09	No comment
EBF3	99.40	No comment
EBP	98.55	No comment
ECEL1	97.04	No comment
EDA	97.49	No comment
EDNRA	99.24	No comment
EDNRB	98.60	No comment
EED	97.73	No comment
EEF1A2	92.77	No comment
EEF1B2	97.60	No comment
EFHC1	98.17	No comment
EFNB1	98.53	No comment
EFTUD2	98.05	No comment
EGR2	99.61	No comment
EHMT1	98.17	No comment
EIF2A	97.83	No comment
EIF2AK1	98.91	No comment
EIF2AK3	97.90	No comment
EIF2S3	97.86	No comment
EIF3F	99.59	No comment
EIF4A3	99.56	No comment
EIF4G1	99.24	No comment
ELAC2	99.51	No comment
ELK1	98.30	No comment
ELN	99.54	No comment
ELOVL4	99.51	No comment
ELOVL5	98.85	No comment
ELP2	99.00	No comment
EMC1	99.43	No comment
EMG1	99.17	No comment
EML1	98.84	No comment
EMX2	99.75	No comment
EN2	95.92	No comment
ENOX2	95.88	No comment
ENPP1	95.08	No comment
TEPSIN	99.67	No comment
ENTPD1	97.83	No comment
EOGT	90.07	No comment
EOMES	99.11	No comment
EP300	99.21	No comment
EPB41L1	99.19	No comment
EPG5	98.98	No comment
EPM2A	91.75	No comment
EPPK1	99.37	No comment
SELENOI	98.64	No comment
ERCC1	97.35	No comment
ERCC2	98.26	No comment
ERCC3	99.57	No comment
ERCC4	99.08	No comment
ERCC5	99.17	No comment
ERCC6	99.25	No comment
ERCC6L2	98.36	No comment
ERCC8	99.23	No comment
ERF	99.27	No comment
ERLIN2	99.21	No comment
ERMARD	99.76	No comment
ESCO2	97.40	No comment
ESX1	96.03	No comment
ETFA	97.87	No comment
ETFB	99.51	No comment
ETFDH	97.92	No comment
ETHE1	98.75	No comment
EVC	94.14	No comment
EVC2	97.83	No comment
EXOSC3	98.97	No comment
EXOSC8	98.32	No comment
EXT1	99.14	No comment
EXT2	99.43	No comment
EXTL3	99.80	No comment
EYA1	99.11	No comment
EZH2	96.67	No comment
F5	99.15	No comment
FA2H	97.25	No comment
FAAH2	92.70	No comment
FAH	96.88	No comment
OTULIN	89.08	No comment
FAM111A	99.59	No comment
FAM111B	99.76	No comment
FAM120C	96.47	No comment
HYCC1	99.23	No comment
RETREG1	97.37	No comment
FHIP2A	97.70	No comment
FAM161A	99.42	No comment
FAM20A	94.00	No comment
FAM20C	96.33	No comment
FAM47B	99.81	No comment
CCNQ	84.67	No comment
FANCA	98.47	No comment
FANCB	97.15	No comment
FANCC	99.30	No comment
FANCD2	99.02	No comment
FANCE	95.74	No comment
FANCF	99.29	No comment
FANCG	98.43	No comment
FANCI	98.29	No comment
FAR1	97.96	No comment
FARS2	99.13	No comment
FASN	99.66	No comment
FAT4	99.73	No comment
FBLN5	97.72	No comment
FBN1	99.18	No comment
FBN2	99.13	No comment
FBP1	99.54	No comment
FBXL3	98.89	No comment
FBXL4	99.22	No comment
FBXO11	98.18	No comment
FBXO25	98.32	No comment
FBXO7	99.44	No comment
FBXO8	99.00	No comment
FBXW11	98.85	No comment
FBXW4	98.88	No comment
FDFT1	96.29	No comment
FDXR	99.16	No comment
FEM1B	98.39	No comment
FGD1	95.65	No comment
FGD4	97.87	No comment
FGF10	98.79	No comment
FGF12	99.23	No comment
FGF14	99.47	No comment
FGF3	95.52	No comment
FGFR1	99.06	No comment
FGFR2	99.55	No comment
FGFR3	98.01	No comment
FH	98.88	No comment
FHL1	98.74	No comment
FIBP	99.40	No comment
FIG4	98.99	No comment
FKBP14	98.92	No comment
FKBP6	99.52	No comment
FKBPL	99.97	No comment
FKRP	97.44	No comment
FKTN	98.78	No comment
FLAD1	99.48	No comment
FLNA	98.47	No comment
FLNB	98.87	No comment
FLT4	98.94	No comment
FLVCR1	98.36	No comment
FLVCR2	99.65	No comment
FMN2	96.08	No comment
FMR1	96.13	No comment
FOLR1	99.56	No comment
FOXC1	91.49	No comment
FOXC2	93.24	No comment
FOXE1	88.43	No comment
FOXE3	70.11	No comment
FOXF1	98.60	No comment
FOXG1	78.93	No comment
FOXN1	99.64	No comment
FOXP1	98.65	No comment
FOXP2	98.84	No comment
FOXP3	95.40	No comment
FOXRED1	98.46	No comment
FRAS1	98.89	No comment
FREM1	99.07	No comment
FREM2	99.25	No comment
FRMD7	97.20	No comment
FRMPD4	97.55	No comment
FRRS1L	82.94	No comment
FRY	99.11	No comment
FTCD	98.94	No comment
FTL	97.48	No comment
FTO	99.41	No comment
FTSJ1	98.72	No comment
FUCA1	98.66	No comment
FCSK	99.13	No comment
FUT8	98.58	No comment
FXN	96.73	No comment
FYCO1	99.38	No comment
FZD3	99.31	No comment
FZD6	99.22	No comment
G6PC3	99.48	No comment
GAA	99.39	No comment
GAB3	94.68	No comment
GABBR2	96.86	No comment
GABRA1	99.65	No comment
GABRA2	99.34	No comment
GABRA5	99.43	No comment
GABRB2	98.99	No comment
GABRB3	99.65	No comment
GABRG2	91.85	No comment
GABRG3	99.67	No comment
GABRQ	96.87	No comment
GAD1	99.31	No comment
GALC	98.53	No comment
GALE	98.79	No comment
GALK1	99.12	No comment
GALNS	98.20	No comment
GALNT2	99.25	No comment
GALT	99.67	No comment
GAMT	98.08	No comment
GAN	98.97	No comment
GAS8	98.96	No comment
GATA2	99.39	No comment
GATA4	94.57	No comment
GATA6	90.43	No comment
GATAD2B	99.84	No comment
GATM	99.31	No comment
GBA1	99.80	No comment
GBA2	99.40	No comment
GBE1	98.14	No comment
GCDH	99.26	No comment
GCH1	98.31	No comment
GCK	99.00	No comment
GCSH	98.69	No comment
GDAP1	99.61	No comment
GDF5	98.79	No comment
GDF6	95.02	No comment
GDI1	96.43	No comment
GEMIN4	99.84	No comment
GFAP	99.47	No comment
GFER	96.28	No comment
GFM1	98.59	No comment
GHR	98.44	No comment
GIGYF2	98.79	No comment
GJA1	99.86	No comment
GJA3	98.78	No comment
GJA8	99.16	No comment
GJB1	99.27	No comment
GJB2	99.76	No comment
GJB3	99.85	No comment
GJC2	86.86	No comment
GK	95.46	No comment
GLB1	99.09	No comment
GLDC	98.46	No comment
GLE1	99.11	No comment
GLI2	98.54	No comment
GLI3	99.24	No comment
GLIS3	99.02	No comment
GLMN	98.58	No comment
GLRA1	98.32	No comment
GLRA2	91.37	No comment
GLUD1	97.56	No comment
GLUL	99.52	No comment
GLYCTK	99.68	No comment
GM2A	99.64	No comment
GMNN	96.21	No comment
GMPPA	99.75	No comment
GMPPB	98.26	No comment
GNAI1	98.99	No comment
GNAI2	98.07	No comment
GNAI3	97.86	No comment
GNAL	97.43	No comment
GNAO1	98.80	No comment
GNAS	99.61	No comment
GNB1	98.37	No comment
GNB5	99.14	No comment
GNE	99.40	No comment
GNPAT	96.78	No comment
GNPTAB	99.40	No comment
GNPTG	97.82	No comment
GNS	99.15	No comment
GON4L	99.53	No comment
GORAB	98.74	No comment
GOSR2	99.40	No comment
GOT2	99.15	No comment
GPAA1	99.20	No comment
GPC3	95.93	No comment
GPC4	97.39	No comment
GPHN	99.23	No comment
ADGRG4	98.24	No comment
ADGRG6	98.33	No comment
GPR179	99.76	No comment
ADGRG1	99.61	No comment
ADGRV1	98.49	No comment
GPRASP1	99.60	No comment
GPSM2	98.63	No comment
GPT2	95.94	No comment
GRB14	97.87	No comment
GRHL3	98.78	No comment
GRIA1	98.02	No comment
GRIA2	98.58	No comment
GRIA3	92.43	No comment
GRIA4	98.61	No comment
GRID2	99.29	No comment
GRIK2	99.11	No comment
GRIN1	99.26	No comment
GRIN2A	99.71	No comment
GRIN2B	99.64	No comment
GRIN2D	78.36	No comment
GRIP1	99.51	No comment
GRM1	98.88	No comment
GRM6	93.42	No comment
GRN	99.81	No comment
GSPT2	99.68	No comment
GSS	99.18	No comment
GSX2	99.55	No comment
GTF2E2	98.84	No comment
GTF2H5	98.97	No comment
GTF3C3	98.70	No comment
GTPBP2	98.27	No comment
GTPBP3	98.65	No comment
GTPBP8	98.83	No comment
GUCY2C	99.16	No comment
GUSB	98.83	No comment
GYS2	99.38	No comment
H3-3A	99.28	No comment
H3-3B	99.69	No comment
HACE1	98.93	No comment
HADH	98.21	No comment
HADHA	99.44	No comment
HADHB	99.06	No comment
HARS2	97.76	No comment
HAUS7	95.60	No comment
HAX1	99.52	No comment
HCCS	97.34	No comment
HCFC1	97.80	No comment
HCN1	98.04	No comment
HDAC4	99.39	No comment
HDAC6	97.59	No comment
HDAC8	97.78	No comment
PUDP	97.74	No comment
HECW2	98.89	No comment
HEPACAM	98.19	No comment
HERC1	99.17	No comment
HERC2	99.81	No comment
HESX1	99.33	No comment
HEXA	99.52	No comment
HEXB	98.68	No comment
HGSNAT	93.69	No comment
HIBCH	99.31	No comment
HINT1	99.52	No comment
H1-4	98.83	No comment
H4C2	99.68	No comment
H4C3	99.67	No comment
H4C11	99.75	No comment
H3-4	99.95	No comment
HIVEP2	99.83	No comment
HK1	99.43	No comment
HLCS	95.35	No comment
HMGB3	95.15	No comment
HMGCL	99.25	No comment
HMGCS2	98.52	No comment
HNF1B	99.68	No comment
HNF4A	99.42	No comment
HNMT	99.40	No comment
HNRNPH2	98.98	No comment
HNRNPK	99.14	No comment
HNRNPR	99.29	No comment
HNRNPU	99.13	No comment
HOXA1	99.10	No comment
HOXA13	75.31	No comment
HOXC13	98.67	No comment
HOXD10	99.56	No comment
HOXD13	96.00	No comment
HPD	99.12	No comment
HPGD	98.68	No comment
HPRT1	91.01	No comment
HPS1	98.99	No comment
HPSE2	99.23	No comment
HR	98.73	No comment
HRAS	99.96	No comment
HS6ST2	98.48	No comment
HSD17B10	99.12	No comment
HSD17B4	98.53	No comment
HSD3B7	93.20	No comment
HSF4	98.76	No comment
HSPD1	99.48	No comment
HSPG2	99.24	No comment
HTRA2	98.32	No comment
HTT	98.29	No comment
HUWE1	96.58	No comment
HYAL1	99.27	No comment
HYDIN	98.89	No comment
HYLS1	99.56	No comment
IARS1	98.84	No comment
IARS2	98.71	No comment
IBA57	96.07	No comment
IDH2	94.56	No comment
IDS	97.02	No comment
IDUA	94.91	No comment
IER3IP1	98.58	No comment
IFIH1	98.73	No comment
IFITM5	99.18	No comment
IFNAR2	99.17	No comment
IFT122	98.98	No comment
IFT140	99.19	No comment
IFT172	99.43	No comment
IFT27	99.45	No comment
IFT43	99.37	No comment
IFT80	98.80	No comment
IGBP1	98.38	No comment
IGF1	98.50	No comment
IGF1R	99.32	No comment
IGF2	98.94	No comment
IGHMBP2	99.36	No comment
IGSF1	95.84	No comment
IHH	98.73	No comment
IKBKG	96.16	No comment
IL11RA	99.17	No comment
IL1RAPL1	97.07	No comment
IL1RAPL2	97.20	No comment
IL3RA	99.85	No comment
ILF2	99.02	No comment
BPNT2	99.21	No comment
INF2	94.80	No comment
INPP4A	99.16	No comment
INPP5E	98.98	No comment
INPP5K	99.11	No comment
INPPL1	98.07	No comment
INSR	96.93	No comment
INTS1	99.07	No comment
INTS6	98.76	No comment
INTS8	97.79	No comment
IQSEC1	96.84	No comment
IQSEC2	88.71	No comment
IQSEC3	99.28	No comment
IRAK1	94.66	No comment
IRF2BPL	97.48	No comment
IRF6	98.80	No comment
IRX5	98.01	No comment
ISCA2	99.85	No comment
CRPPA	86.74	No comment
ITCH	94.90	No comment
ITGA3	99.19	No comment
ITGA4	96.65	No comment
ITGA7	99.02	No comment
ITGB6	99.17	No comment
ITIH6	96.21	No comment
ITPA	99.87	No comment
ITPR1	98.49	No comment
IVD	99.26	No comment
JAG1	99.05	No comment
JAGN1	99.34	No comment
JAK3	98.80	No comment
JAM3	98.99	No comment
KANK1	98.55	No comment
KANSL1	99.38	No comment
KARS1	99.19	No comment
KAT5	99.33	No comment
KAT6A	99.45	No comment
KAT6B	99.14	No comment
KAT8	96.84	No comment
KATNAL2	99.21	No comment
KATNB1	99.24	No comment
KBTBD13	98.92	No comment
KCNA1	99.84	No comment
KCNA2	99.87	No comment
KCNB1	99.55	No comment
KCNC1	99.57	No comment
KCNC3	79.69	No comment
KCND1	97.45	No comment
KCND3	99.47	No comment
KCNE1	99.99	No comment
KCNH1	99.06	No comment
KCNH5	98.52	No comment
KCNJ10	99.06	No comment
KCNJ11	99.50	No comment
KCNJ6	99.58	No comment
KCNK12	94.89	No comment
KCNK4	98.87	No comment
KCNK9	99.78	No comment
KCNMA1	98.89	No comment
KCNN3	99.58	No comment
KCNQ1	94.82	No comment
KCNQ2	98.91	No comment
KCNQ3	97.63	No comment
KCNQ5	98.24	No comment
KCNT1	98.83	No comment
KCNT2	98.81	No comment
KCTD1	99.70	No comment
KCTD3	99.34	No comment
KCTD7	98.45	No comment
KDM1A	97.93	No comment
KDM3B	98.22	No comment
KDM5A	99.06	No comment
KDM5B	98.98	No comment
KDM5C	98.12	No comment
KDM6A	95.37	No comment
KDM6B	97.67	No comment
TMEM94	99.37	No comment
WASHC5	98.20	No comment
RUBCN	99.10	No comment
KIAA0586	93.75	No comment
KIAA1109	98.44	No comment
KIFBP	99.27	No comment
RIC1	99.07	No comment
LNPK	99.07	No comment
NEXMIF	99.59	No comment
KIDINS220	99.40	No comment
KIF11	98.60	No comment
KIF14	98.97	No comment
KIF1A	99.09	No comment
KIF1C	99.18	No comment
KIF21A	98.56	No comment
KIF22	98.71	No comment
KIF26B	99.62	No comment
KIF2A	98.32	No comment
KIF4A	96.82	No comment
KIF5A	97.77	No comment
KIF5C	96.11	No comment
KIF7	96.34	No comment
KIRREL3	98.99	No comment
KIT	99.30	No comment
KLF1	99.27	No comment
KLF7	99.57	No comment
KLF8	96.17	No comment
KLHL15	99.48	No comment
KLHL21	97.63	No comment
KLHL34	97.50	No comment
KLHL4	96.56	No comment
KLHL40	99.52	No comment
KLHL7	99.04	No comment
KMT2A	98.08	No comment
KMT2B	96.01	No comment
KMT2C	99.21	No comment
KMT2D	99.70	No comment
KMT2E	98.57	No comment
KPTN	98.80	No comment
KRAS	97.27	No comment
KRIT1	98.55	No comment
L1CAM	97.47	No comment
L2HGDH	98.33	No comment
LAMA1	99.36	No comment
LAMA2	99.11	No comment
LAMB1	99.38	No comment
LAMB2	99.40	No comment
LAMC3	97.47	No comment
LAMP2	95.99	No comment
LARGE1	99.44	No comment
LARP7	97.05	No comment
LARS2	99.25	No comment
LAS1L	98.38	No comment
LBR	99.13	No comment
LDB3	95.69	No comment
LEMD3	98.30	No comment
P3H1	99.32	No comment
LFNG	80.45	No comment
LGI1	99.81	No comment
LGI4	99.14	No comment
LHFPL3	95.05	No comment
LHX3	99.03	No comment
LHX4	99.11	No comment
LIAS	98.84	No comment
LIG4	99.71	No comment
LIMK1	99.08	No comment
LINGO1	99.68	No comment
LINS1	98.96	No comment
LIPT1	98.07	No comment
LIPT2	97.11	No comment
LITAF	99.34	No comment
LMAN2L	99.15	No comment
LMBRD1	96.71	No comment
LMNA	98.89	No comment
LMX1B	99.74	No comment
LONP1	99.06	No comment
LOXHD1	99.14	No comment
LRAT	99.56	No comment
LRP1	98.97	No comment
LRP2	99.08	No comment
LRP4	98.69	No comment
LRP5	97.97	No comment
LRPPRC	98.65	No comment
LRRC32	99.45	No comment
DNAAF11	99.52	No comment
LRRK1	99.22	No comment
LRRK2	98.24	No comment
LSS	99.87	No comment
LTBP2	98.85	No comment
LTBP3	98.16	No comment
LYRM7	95.36	No comment
LYST	98.97	No comment
LZTFL1	98.88	No comment
LZTR1	99.05	No comment
MAB21L1	99.89	No comment
MAB21L2	99.46	No comment
MACC1	99.56	No comment
MACF1	98.64	No comment
MADD	98.87	No comment
MAF	78.51	No comment
MAFB	99.20	No comment
MAGEA11	99.42	No comment
MAGEB1	99.65	No comment
MAGEB10	99.72	No comment
MAGEB2	99.51	No comment
MAGEC1	98.27	No comment
MAGEC3	96.41	No comment
MAGED1	97.72	No comment
MAGEL2	99.77	No comment
MAGI2	92.15	No comment
MAGIX	91.35	No comment
MAGT1	95.72	No comment
MAN1B1	97.68	No comment
MAN2B1	98.69	No comment
MANBA	98.99	No comment
MAOA	92.59	No comment
MAOB	96.46	No comment
MAP1B	99.62	No comment
MAP2K1	98.93	No comment
MAP2K2	99.30	No comment
MAP3K1	93.46	No comment
MAP3K15	81.00	No comment
MAP3K7	98.96	No comment
MAP7D3	93.50	No comment
MAPK10	99.23	No comment
MAPK8IP3	99.17	No comment
MAPRE2	99.34	No comment
MAPT	99.44	No comment
MASP1	99.32	No comment
MAST1	98.94	No comment
MAT1A	99.31	No comment
MATN3	94.73	No comment
MBD5	99.80	No comment
MBNL3	97.64	No comment
MBOAT7	99.23	No comment
MBTPS2	97.35	No comment
MC2R	99.83	No comment
MCCC1	99.36	No comment
MCCC2	99.42	No comment
MCEE	99.73	No comment
MCM3AP	99.17	No comment
MCM9	99.49	No comment
MCOLN1	98.09	No comment
MCPH1	97.71	No comment
MDH2	99.26	No comment
MECP2	89.64	No comment
MECR	98.83	No comment
MED12	97.94	No comment
MED12L	98.99	No comment
MED13	98.50	No comment
MED13L	99.39	No comment
MED17	98.61	No comment
MED23	98.85	No comment
MED25	97.95	No comment
MEF2C	99.19	No comment
MEGF10	98.25	No comment
MEGF8	99.01	No comment
MEIS2	99.60	No comment
MESP2	98.01	No comment
MET	99.32	No comment
METTL23	99.70	No comment
METTL5	94.29	No comment
MFF	98.90	No comment
MFRP	98.32	No comment
MFSD2A	98.61	No comment
MFSD8	99.49	No comment
MGAT2	99.31	No comment
MGAT5B	98.30	No comment
MGP	99.47	No comment
MIB1	98.13	No comment
MICU1	99.39	No comment
MID1	98.26	No comment
MITF	99.17	No comment
MKKS	99.47	No comment
MKS1	98.74	No comment
MLC1	98.91	No comment
MLH1	98.70	No comment
MLYCD	94.43	No comment
MMAA	98.59	No comment
MMAB	99.44	No comment
MMACHC	99.23	No comment
MMADHC	98.97	No comment
MMP13	98.47	No comment
MMP21	97.96	No comment
MN1	99.12	No comment
MNX1	68.62	No comment
MOCS1	99.12	No comment
MOCS2	99.33	No comment
MOGS	98.80	No comment
MORC4	92.98	No comment
MPDU1	97.72	No comment
MPDZ	99.06	No comment
MPI	99.09	No comment
MPLKIP	99.41	No comment
MPV17	99.32	No comment
MPZ	99.26	No comment
MRAP	99.40	No comment
MRE11	98.82	No comment
MRPS22	99.08	No comment
MRPS34	97.34	No comment
MSL3	95.17	No comment
MSMO1	98.59	No comment
MSX1	98.22	No comment
MSX2	99.75	No comment
MTF1	98.69	No comment
MTFMT	98.17	No comment
MTHFR	97.78	No comment
MTM1	96.15	No comment
MTMR1	88.31	No comment
MTMR14	99.36	No comment
MTMR2	98.85	No comment
MTMR8	95.90	No comment
MTO1	93.67	No comment
MTOR	98.53	No comment
MTPAP	98.83	No comment
MTR	99.25	No comment
MTRR	99.33	No comment
MTTP	99.03	No comment
MMUT	98.64	No comment
MVK	99.52	No comment
MXRA5	98.86	No comment
MYBPC1	98.08	No comment
MYCN	90.97	No comment
MYH10	99.14	No comment
MYH3	99.61	No comment
MYH6	99.58	No comment
MYH8	99.84	No comment
MYH9	99.50	No comment
MYO1D	99.24	No comment
MYO1G	98.28	No comment
MYO5A	98.89	No comment
MYO5B	98.83	No comment
MYO7A	99.30	No comment
MYT1L	99.61	No comment
NAA10	97.29	No comment
NAA15	96.88	No comment
NACC1	99.36	No comment
NADK2	90.73	No comment
NAGA	99.05	No comment
NAGLU	92.35	No comment
NAGS	99.13	No comment
NALCN	99.30	No comment
NANS	99.57	No comment
NBAS	99.15	No comment
NBEA	98.46	No comment
NBN	98.71	No comment
NCAPD2	99.26	No comment
NCAPG2	98.85	No comment
NCAPH	96.78	No comment
NCKAP1	98.92	No comment
NDE1	99.73	No comment
NDN	97.93	No comment
NDP	98.16	No comment
NDRG1	99.86	No comment
NDST1	99.02	No comment
NDUFA1	98.51	No comment
NDUFA10	99.01	No comment
NDUFA11	90.58	No comment
NDUFA12	99.80	No comment
NDUFA9	98.99	No comment
NDUFAF1	99.39	No comment
NDUFAF2	98.80	No comment
NDUFAF3	99.67	No comment
NDUFAF5	99.09	No comment
NDUFS1	98.99	No comment
NDUFS2	97.41	No comment
NDUFS3	99.78	No comment
NDUFS4	97.48	No comment
NDUFS7	99.69	No comment
NDUFS8	98.57	No comment
NDUFV1	99.26	No comment
NEB	99.00	No comment
NECAB2	87.19	No comment
NECAP1	99.07	No comment
NEDD4L	98.42	No comment
NEK1	98.94	No comment
NEU1	99.97	No comment
NF1	98.44	No comment
NFASC	98.10	No comment
NFIA	97.99	No comment
NFIB	98.14	No comment
NFIX	97.92	No comment
NFU1	99.67	No comment
NGF	98.59	No comment
NGLY1	99.36	No comment
NHEJ1	99.58	No comment
NHLRC1	99.86	No comment
NHP2	99.45	No comment
NHS	96.49	No comment
NIPA1	90.55	No comment
NIPBL	98.60	No comment
NKAP	96.73	No comment
NKX2-1	97.75	No comment
NKX2-5	99.63	No comment
NKX3-2	98.37	No comment
NLGN3	98.40	No comment
NLGN4X	99.13	No comment
NLRP3	98.99	No comment
NMNAT1	97.99	No comment
NODAL	99.40	No comment
NOG	99.12	No comment
NONO	96.77	No comment
NOP56	99.35	No comment
NOTCH2	99.27	No comment
NOVA2	89.97	No comment
NPC1	98.89	No comment
NPC2	99.66	No comment
NPHP1	99.51	No comment
NPHP3	98.74	No comment
NPHP4	99.19	No comment
NPHS1	99.44	No comment
NPHS2	97.80	No comment
NPR2	99.34	No comment
NPR3	90.56	No comment
NR1I3	99.14	No comment
NR2F1	90.07	No comment
NR2F2	98.87	No comment
NR4A2	99.44	No comment
NR5A1	97.66	No comment
NRAS	98.92	No comment
NRK	96.60	No comment
NRROS	99.89	No comment
NRXN1	99.17	No comment
NRXN2	95.11	No comment
NRXN3	99.23	No comment
NSD1	98.92	No comment
NSDHL	98.64	No comment
NSF	98.09	No comment
NSUN2	98.86	No comment
NT5C2	98.94	No comment
NT5C3A	98.92	No comment
NTM	98.61	No comment
NTNG1	99.58	No comment
NTNG2	93.49	No comment
NTRK1	98.79	No comment
NTRK2	99.23	No comment
NUBPL	99.17	No comment
NUDT2	99.10	No comment
NUP107	97.33	No comment
NUP188	98.99	No comment
NUP62	99.65	No comment
NUS1	97.85	No comment
NXF5	99.08	No comment
NYX	92.34	No comment
OBSL1	98.23	No comment
OCLN	99.53	No comment
OCRL	95.55	No comment
ODC1	99.36	No comment
ODF2L	97.74	No comment
OFD1	93.09	No comment
OGT	96.02	No comment
OPA3	99.11	No comment
OPHN1	93.40	No comment
OR5M1	99.56	No comment
ORC1	98.75	No comment
ORC4	98.23	No comment
ORC6	98.12	No comment
OSGEP	99.20	No comment
OTC	94.39	No comment
OTOGL	91.23	No comment
OTUD6B	97.21	No comment
OTUD7A	84.64	No comment
OTX2	99.74	No comment
OXCT1	98.14	No comment
P2RY4	99.46	No comment
P2RY8	99.54	No comment
P4HB	99.48	No comment
P4HTM	95.19	No comment
PABPC5	99.77	No comment
PACS1	97.81	No comment
PACS2	97.16	No comment
PAFAH1B1	99.12	No comment
PAH	99.36	No comment
PAK1	89.41	No comment
PAK3	93.85	No comment
PALB2	99.35	No comment
PANK2	98.65	No comment
PAPSS2	97.09	No comment
PRKN	99.61	No comment
PARK7	98.71	No comment
PARN	99.92	No comment
PARP1	99.23	No comment
PASD1	96.99	No comment
PAX2	98.63	No comment
PAX3	99.47	No comment
PAX6	99.12	No comment
PAX7	98.68	No comment
PAX8	99.37	No comment
PAX9	99.60	No comment
PBRM1	99.04	No comment
PBX1	98.79	No comment
PC	99.26	No comment
PCBD1	98.19	No comment
PCCA	99.09	No comment
PCCB	98.35	No comment
PCDH10	99.56	No comment
PCDH12	99.87	No comment
PCDH19	99.27	No comment
PCGF2	89.24	No comment
PCLO	99.20	No comment
PCNT	98.96	No comment
PCYT1A	99.37	No comment
PCYT2	93.96	No comment
PDCD10	97.57	No comment
PDE10A	99.49	No comment
PDE4D	97.01	No comment
PDE6D	99.57	No comment
PDE6G	99.28	No comment
PDGFB	99.27	No comment
PDGFRB	98.98	No comment
PDHA1	93.13	No comment
PDHX	97.66	No comment
PDSS1	88.79	No comment
PDSS2	98.91	No comment
PDYN	97.60	No comment
PECR	98.78	No comment
PEPD	99.16	No comment
PET100	99.52	No comment
PEX1	98.65	No comment
PEX10	94.24	No comment
PEX11B	98.16	No comment
PEX12	98.98	No comment
PEX13	99.29	No comment
PEX14	99.37	No comment
PEX16	99.69	No comment
PEX19	98.79	No comment
PEX2	99.69	No comment
PEX26	98.07	No comment
PEX3	98.18	No comment
PEX5	98.49	No comment
PEX6	98.82	No comment
PEX7	98.38	No comment
PGAP1	97.38	No comment
PGAP2	99.62	No comment
PGAP3	97.87	No comment
PGK1	98.42	No comment
PGM1	98.11	No comment
PGM3	99.56	No comment
PGRMC1	98.26	No comment
PHACTR1	89.43	No comment
PHC1	99.13	No comment
PHF10	95.41	No comment
PHF21A	98.68	No comment
PHF6	87.29	No comment
PHF8	98.16	No comment
PHGDH	99.24	No comment
PHIP	98.39	No comment
PHKA1	96.26	No comment
PHKA2	95.35	No comment
PHKG2	99.76	No comment
PHOX2B	94.35	No comment
PIEZO2	98.61	No comment
PIGA	96.21	No comment
PIGB	99.29	No comment
PIGC	99.49	No comment
PIGG	99.35	No comment
PIGH	99.72	No comment
PIGK	97.34	No comment
PIGL	99.60	No comment
PIGN	97.35	No comment
PIGO	99.30	No comment
PIGP	97.65	No comment
PIGQ	99.47	No comment
PIGS	99.30	No comment
PIGT	99.18	No comment
PIGU	96.64	No comment
PIGV	99.64	No comment
PIGW	99.86	No comment
PIGY	98.77	No comment
PIK3C2A	98.95	No comment
PIK3C3	98.08	No comment
PIK3CA	98.58	No comment
PIK3R1	98.70	No comment
PIK3R2	92.16	No comment
PIN4	94.34	No comment
PINK1	96.58	No comment
PITRM1	99.18	No comment
PITX2	98.79	No comment
PITX3	99.21	No comment
PJA1	99.79	No comment
PKD1L1	99.32	No comment
PKHD1	99.32	No comment
PLA2G6	99.38	No comment
PLAA	99.25	No comment
PLCB1	98.83	No comment
PLCE1	98.80	No comment
PLCXD1	96.54	No comment
PLEC	99.59	No comment
PLEKHG2	99.01	No comment
PLK4	98.64	No comment
PLOD1	98.15	No comment
PLOD2	98.29	No comment
PLOD3	98.92	No comment
PLP1	98.91	No comment
PLXNB3	98.08	No comment
PMM2	97.92	No comment
PMP22	99.70	No comment
PMPCA	99.22	No comment
PMPCB	98.76	No comment
PMS2	98.73	No comment
PNKD	99.01	No comment
PNKP	99.38	No comment
PNP	99.48	No comment
PNPLA6	99.18	No comment
PNPO	98.09	No comment
PNPT1	98.94	No comment
POC1A	98.69	No comment
POC1B	98.91	No comment
POGLUT1	99.01	No comment
POGZ	99.08	No comment
POLA1	93.70	No comment
POLD1	99.32	No comment
POLG	98.98	No comment
POLR1C	99.42	No comment
POLR1D	94.97	No comment
POLR2A	93.09	No comment
POLR3A	99.17	No comment
POLR3B	98.52	No comment
POMGNT1	98.91	No comment
POMGNT2	99.93	No comment
POMT1	99.40	No comment
POMT2	98.43	No comment
PORCN	98.49	No comment
POU1F1	99.20	No comment
POU3F3	72.47	No comment
PPA2	98.38	No comment
PPM1D	98.90	No comment
PPOX	99.10	No comment
PPP1CB	99.15	No comment
PPP1R15B	99.76	No comment
PPP1R1B	97.58	No comment
PPP1R21	97.12	No comment
PPP2CA	99.22	No comment
PPP2R1A	99.53	No comment
PPP2R2B	99.49	No comment
PPP2R5D	99.23	No comment
PPP3CA	97.94	No comment
PPT1	99.42	No comment
PQBP1	98.03	No comment
PRDM12	87.59	No comment
PRDX4	76.26	No comment
PREPL	99.18	No comment
PRICKLE1	99.56	No comment
PRICKLE2	99.38	No comment
PRICKLE3	96.71	No comment
PRKAR1A	99.58	No comment
PRKCG	99.43	No comment
PRKD1	98.77	No comment
PRKRA	99.26	No comment
PRMT9	98.98	No comment
PRMT7	98.06	No comment
PRODH	98.11	No comment
PROP1	99.63	No comment
PLPBP	95.56	No comment
PROX2	99.44	No comment
PRPS1	95.38	No comment
PRR12	98.27	No comment
PRRG1	94.01	No comment
PRRG3	97.85	No comment
PRRT2	99.50	No comment
PRSS12	99.22	No comment
PRSS56	98.31	No comment
PRUNE1	99.16	No comment
PRX	99.79	No comment
PSAP	99.57	No comment
PSAT1	99.42	No comment
PSEN1	99.47	No comment
PSMA7	92.67	No comment
PSMB8	99.96	No comment
PSMD10	98.66	No comment
PSMD12	99.46	No comment
PSPH	99.39	No comment
PTCH1	98.24	No comment
PTCHD1	99.55	No comment
PTDSS1	99.53	No comment
PTEN	97.06	No comment
PTF1A	84.73	No comment
PTH1R	99.36	No comment
PTHLH	99.63	No comment
PTPN11	98.87	No comment
PTPN21	99.21	No comment
PTPN23	99.40	No comment
PTRH2	99.69	No comment
PTRHD1	99.61	No comment
PTS	97.89	No comment
PUF60	99.63	No comment
PUM1	98.63	No comment
PURA	95.31	No comment
PUS1	93.61	No comment
PUS3	99.35	No comment
PUS7	99.26	No comment
NECTIN1	99.41	No comment
PYCR1	99.44	No comment
PYCR2	98.91	No comment
PYGL	99.15	No comment
QARS1	99.24	No comment
QDPR	99.29	No comment
QKI	99.00	No comment
QRICH1	99.47	No comment
RAB11A	99.26	No comment
RAB11B	99.79	No comment
RAB18	98.52	No comment
RAB23	98.94	No comment
RAB27A	96.61	No comment
RAB39B	99.40	No comment
RAB3GAP1	98.90	No comment
RAB3GAP2	99.12	No comment
RAB40AL	99.76	No comment
RABL6	99.51	No comment
RAC1	98.23	No comment
NCOA3	95.06	No comment
RAD21	98.41	No comment
RAD50	97.32	No comment
RAD51	86.56	No comment
RAD51C	98.85	No comment
RAF1	99.16	No comment
RAI1	99.61	No comment
RALA	96.03	No comment
RALGAPA1	98.41	No comment
RALGDS	95.93	No comment
RANBP17	98.36	No comment
RANBP2	99.68	No comment
RAPGEF1	99.41	No comment
RAPSN	99.04	No comment
RARB	99.38	No comment
RARS1	97.45	No comment
RARS2	99.01	No comment
RASA1	97.27	No comment
RAX	93.04	No comment
RBBP8	97.45	No comment
RBFOX1	97.68	No comment
RBL2	98.08	No comment
RBM10	97.07	No comment
RBM28	99.52	No comment
RBM8A	99.76	No comment
RBPJ	99.63	No comment
RECQL4	98.44	No comment
REEP1	98.11	No comment
REEP2	98.01	No comment
RELN	99.14	No comment
RENBP	93.79	No comment
RERE	97.47	No comment
RET	98.30	No comment
RFT1	97.40	No comment
RFX6	98.63	No comment
RTL9	99.02	No comment
RGN	96.72	No comment
RGS7	99.42	No comment
RHEB	99.03	No comment
RHOBTB2	98.98	No comment
RIMS1	98.15	No comment
RIPK4	99.54	No comment
RIT1	99.28	No comment
RLIM	99.09	No comment
RMND1	99.20	No comment
RNASEH2A	99.80	No comment
RNASEH2B	94.50	No comment
RNASEH2C	99.62	No comment
RNASET2	99.20	No comment
RNF113A	99.44	No comment
RNF125	98.59	No comment
RNF13	97.23	No comment
RNF135	98.54	No comment
RNF168	99.46	No comment
RNF216	99.40	No comment
ROBO3	98.40	No comment
ROGDI	96.44	No comment
ROR2	97.79	No comment
RORA	99.37	No comment
RORB	99.16	No comment
RPE65	99.50	No comment
RPGR	91.56	No comment
RPGRIP1	98.66	No comment
RPGRIP1L	95.87	No comment
RPIA	97.45	No comment
RPL10	97.70	No comment
RPS19	98.91	No comment
RPS23	99.81	No comment
RPS6KA3	91.96	No comment
RRAS	94.70	No comment
RRM2B	98.76	No comment
RSPH1	99.58	No comment
RSPH3	99.23	No comment
RSPO4	99.59	No comment
RSPRY1	98.70	No comment
RSRC1	94.18	No comment
RTEL1	99.53	No comment
RTN2	99.37	No comment
RTN4IP1	98.71	No comment
RTTN	98.24	No comment
RUNX2	99.01	No comment
RUSC2	99.39	No comment
RYR1	97.61	No comment
RYR3	99.20	No comment
SACS	99.78	No comment
SALL1	99.82	No comment
SALL4	99.82	No comment
SAMD9	99.90	No comment
SAMHD1	99.51	No comment
SARS2	99.19	No comment
SATB1	99.00	No comment
SATB2	99.38	No comment
SBDS	99.45	No comment
SBF1	99.15	No comment
SBF2	98.85	No comment
SC5D	98.71	No comment
SCAF4	98.85	No comment
SCAMP5	99.20	No comment
SCAPER	98.60	No comment
SCARB2	99.18	No comment
SCARF2	93.83	No comment
SCN11A	98.88	No comment
SCN1A	98.90	No comment
SCN1B	95.08	No comment
SCN2A	99.00	No comment
SCN3A	99.17	No comment
SCN4A	98.53	No comment
SCN8A	96.15	No comment
SCN9A	98.95	No comment
SCO1	99.42	No comment
SCO2	95.41	No comment
SCRIB	99.36	No comment
SCYL1	98.07	No comment
SDCCAG8	99.21	No comment
SDHA	98.78	No comment
SDHAF1	95.67	No comment
SEC23B	98.95	No comment
SEC31A	98.89	No comment
SEPSECS	98.34	No comment
SERAC1	98.92	No comment
SET	99.64	No comment
SETBP1	96.95	No comment
SETD1A	98.37	No comment
SETD1B	95.43	No comment
SETD2	99.04	No comment
SETD5	99.01	No comment
SETDB2	98.15	No comment
SETX	99.48	No comment
SF3B4	98.95	No comment
SGCA	99.28	No comment
SGCE	93.44	No comment
SGPL1	98.02	No comment
SGSH	99.56	No comment
SH3PXD2B	98.34	No comment
SH3TC2	99.47	No comment
SHANK1	95.42	No comment
SHANK2	95.90	No comment
SHANK3	84.05	No comment
SHH	97.41	No comment
SHOC2	98.50	No comment
SHOX	99.66	No comment
SHROOM2	96.54	No comment
SHROOM4	98.99	No comment
SIGMAR1	99.83	No comment
SIK1	99.55	No comment
SIL1	99.44	No comment
SIN3A	99.40	No comment
SIX1	99.50	No comment
SIX3	98.04	No comment
SIX5	96.91	No comment
SKI	94.70	No comment
SKIC2	99.87	No comment
SLC12A5	98.41	No comment
SLC12A6	98.39	No comment
SLC13A5	98.63	No comment
SLC16A2	99.13	No comment
SLC17A5	98.11	No comment
SLC19A3	98.65	No comment
SLC1A1	99.06	No comment
SLC1A2	98.81	No comment
SLC1A4	99.04	No comment
SLC20A2	98.04	No comment
SLC22A5	99.51	No comment
SLC25A1	93.07	No comment
SLC25A12	98.89	No comment
SLC25A13	99.00	No comment
SLC25A15	99.02	No comment
SLC25A19	98.60	No comment
SLC25A20	96.95	No comment
SLC25A22	98.89	No comment
SLC25A24	99.54	No comment
SLC25A26	99.04	No comment
SLC25A38	99.44	No comment
SLC25A53	99.18	No comment
SLC25A6	93.97	No comment
SLC26A2	99.60	No comment
SLC26A9	98.51	No comment
SLC27A4	99.39	No comment
SLC2A1	99.21	No comment
SLC2A10	99.62	No comment
SLC2A2	98.55	No comment
SLC30A9	98.53	No comment
SLC31A1	98.80	No comment
SLC33A1	98.15	No comment
SLC35A1	98.63	No comment
SLC35A2	98.33	No comment
SLC35A3	98.16	No comment
SLC35C1	99.23	No comment
SLC35D1	97.31	No comment
SLC39A13	99.08	No comment
SLC39A14	99.48	No comment
SLC39A8	99.08	No comment
SLC45A1	99.36	No comment
SLC46A1	99.30	No comment
SLC4A1	95.32	No comment
SLC4A11	99.30	No comment
SLC4A4	98.81	No comment
SLC52A3	99.86	No comment
SLC5A2	99.60	No comment
SLC5A5	98.75	No comment
SLC5A6	99.13	No comment
SLC5A7	99.53	No comment
SLC6A1	98.74	No comment
SLC6A17	98.68	No comment
SLC6A19	99.55	No comment
SLC6A3	99.88	No comment
SLC6A4	99.05	No comment
SLC6A5	99.35	No comment
SLC6A8	91.92	No comment
SLC6A9	99.08	No comment
SLC7A7	99.58	No comment
SLC9A6	89.27	No comment
SLC9A9	98.10	No comment
SLX4	99.16	No comment
SMAD3	98.93	No comment
SMAD4	99.09	No comment
SMARCA1	93.45	No comment
SMARCA2	96.71	No comment
SMARCA4	98.96	No comment
SMARCAL1	99.40	No comment
SMARCB1	99.67	No comment
SMARCC1	98.91	No comment
SMARCC2	98.49	No comment
SMARCD1	98.02	No comment
SMARCD2	89.27	No comment
SMARCD3	95.19	No comment
SMARCE1	99.13	No comment
SMC1A	97.63	No comment
SMC3	98.43	No comment
SMCHD1	96.94	No comment
SMG9	99.03	No comment
SMO	97.34	No comment
SMOC1	99.47	No comment
SMPD1	99.59	No comment
SMPD4	99.16	No comment
SMS	93.00	No comment
SNAP25	99.07	No comment
SNAP29	97.81	No comment
SNCA	99.88	No comment
SNIP1	99.49	No comment
SNRPB	99.04	No comment
SNTG1	99.41	No comment
SNX14	98.24	No comment
SNX27	97.42	No comment
SNX3	97.57	No comment
SOBP	91.72	No comment
SON	99.58	No comment
SOS1	98.49	No comment
SOS2	98.44	No comment
SOX10	99.18	No comment
SOX11	98.67	No comment
SOX17	99.36	No comment
SOX2	99.09	No comment
SOX3	92.70	No comment
SOX4	92.73	No comment
SOX5	99.41	No comment
SOX6	98.79	No comment
SOX9	98.76	No comment
SPAG1	92.96	No comment
SPAST	98.37	No comment
AFG2A	98.79	No comment
SPECC1L	99.39	No comment
SPEG	98.56	No comment
SPG11	98.94	No comment
SPART	99.65	No comment
SPG21	99.56	No comment
SPG7	97.12	No comment
SPR	96.31	No comment
SPRED1	99.02	No comment
SPRTN	98.90	No comment
SPRY3	99.98	No comment
SPTAN1	98.92	No comment
SPTBN2	99.21	No comment
SPTLC1	99.27	No comment
SPTLC2	97.79	No comment
SRCAP	99.48	No comment
SRD5A3	99.57	No comment
SREBF2	98.39	No comment
SRGAP3	99.31	No comment
SRP54	98.17	No comment
SRPX2	97.52	No comment
SRY	49.45	No comment
SSR4	96.62	No comment
ST3GAL3	99.33	No comment
ST3GAL5	95.14	No comment
STAB2	99.01	No comment
STAG1	98.53	No comment
STAG2	88.40	No comment
STAMBP	99.15	No comment
STAR	98.82	No comment
STARD8	98.62	No comment
STAT1	99.43	No comment
STAT5B	99.51	No comment
STIL	99.10	No comment
STRA6	98.39	No comment
STRADA	98.02	No comment
STS	94.96	No comment
STT3A	99.15	No comment
STT3B	97.48	No comment
STUB1	98.49	No comment
STX11	99.96	No comment
STX1B	99.29	No comment
STX3	99.34	No comment
STXBP1	99.41	No comment
SUCLG1	97.18	No comment
SUFU	97.89	No comment
SUMF1	99.40	No comment
SUOX	99.68	No comment
SURF1	97.97	No comment
KMT5B	99.52	No comment
SYN1	90.54	No comment
SYNCRIP	99.53	No comment
SYNE1	99.37	No comment
SYNGAP1	97.57	No comment
SYNJ1	98.62	No comment
SYP	98.38	No comment
SYT1	98.69	No comment
SYT14	92.68	No comment
SYTL4	95.73	No comment
SYTL5	95.65	No comment
SZT2	99.40	No comment
TAB2	99.63	No comment
TACO1	99.03	No comment
TAF1	96.88	No comment
TAF13	99.08	No comment
TAF2	98.77	No comment
TAF6	98.77	No comment
TAF7L	96.34	No comment
TANC2	99.08	No comment
TANGO2	99.49	No comment
TAOK1	98.85	No comment
TARDBP	98.93	No comment
TAT	99.63	No comment
TAFAZZIN	98.45	No comment
TBC1D20	96.79	No comment
TBC1D23	96.93	No comment
TBC1D24	99.04	No comment
TBC1D7	99.38	No comment
TBC1D8B	94.09	No comment
TBCD	99.00	No comment
TBCE	97.65	No comment
TBCK	98.11	No comment
TBL1XR1	99.36	No comment
TBP	94.39	No comment
TBR1	97.83	No comment
TBX1	80.23	No comment
TBX15	99.32	No comment
TBX20	98.62	No comment
TBX22	98.45	No comment
TBX3	99.44	No comment
TBX4	96.92	No comment
TBX5	99.04	No comment
TBXAS1	99.15	No comment
TCEAL3	98.98	No comment
TCF12	99.27	No comment
TCF20	99.92	No comment
TCF4	98.18	No comment
TCN2	99.16	No comment
TCOF1	98.98	No comment
TCP10L2	96.65	No comment
TCTN1	99.23	No comment
TCTN2	98.51	No comment
TCTN3	99.33	No comment
TDP2	98.45	No comment
TECPR2	97.98	No comment
TECR	99.15	No comment
TEK	98.69	No comment
TELO2	98.42	No comment
TENM1	97.40	No comment
TERT	97.99	No comment
TFAP2A	99.10	No comment
TFAP2B	99.67	No comment
TFB2M	97.77	No comment
TFE3	97.18	No comment
TFG	97.71	No comment
TGDS	98.69	No comment
TGFB1	98.69	No comment
TGFB2	99.24	No comment
TGFB3	98.80	No comment
TGFBR1	94.44	No comment
TGFBR2	99.42	No comment
TGIF1	99.54	No comment
TGM6	99.52	No comment
TH	98.92	No comment
THAP1	99.83	No comment
THOC2	95.28	No comment
THOC6	99.31	No comment
THRA	98.88	No comment
THRB	99.50	No comment
THUMPD1	97.86	No comment
TIMM50	99.61	No comment
TIMM8A	98.50	No comment
TINF2	99.50	No comment
TK2	96.78	No comment
TKT	97.27	No comment
TKTL1	96.74	No comment
TLK2	98.47	No comment
TLR8	97.46	No comment
TM4SF20	99.00	No comment
TMCO1	94.77	No comment
TMEM126B	97.26	No comment
TMEM132E	98.50	No comment
TMEM135	98.43	No comment
TMEM165	94.88	No comment
TMEM216	99.71	No comment
TMEM231	99.23	No comment
TMEM237	97.63	No comment
TMEM240	99.05	No comment
TMEM260	98.99	No comment
RXYLT1	98.12	No comment
TMEM67	96.82	No comment
TMEM70	99.03	No comment
TMLHE	95.63	No comment
TMPRSS6	99.18	No comment
TMTC3	98.30	No comment
TMX2	99.71	No comment
TNIK	98.61	No comment
TNKS2	98.85	No comment
TNPO2	99.19	No comment
TNRC6B	99.23	No comment
TOE1	99.29	No comment
TOMM70	98.81	No comment
TOR1A	99.40	No comment
TP63	99.19	No comment
TPH2	99.50	No comment
TPK1	98.78	No comment
TPP1	99.55	No comment
TRAF7	99.15	No comment
TRAIP	99.21	No comment
TRAK1	99.03	No comment
TRAPPC11	99.04	No comment
TRAPPC12	99.42	No comment
TRAPPC2	95.98	No comment
TRAPPC4	99.44	No comment
TRAPPC6A	98.87	No comment
TRAPPC6B	98.72	No comment
TRAPPC9	99.07	No comment
TREX1	99.86	No comment
TREX2	96.69	No comment
TRHR	99.49	No comment
TRIM32	99.91	No comment
TRIM37	99.00	No comment
TRIM8	98.75	No comment
TRIO	96.38	No comment
TRIP11	99.09	No comment
TRIP12	98.93	No comment
TRIP13	96.31	No comment
TRIT1	99.11	No comment
TRMT1	98.51	No comment
TRMT10A	99.25	No comment
TRPM1	99.80	No comment
TRPM3	99.30	No comment
TRPS1	99.67	No comment
TRPV4	98.68	No comment
TRRAP	98.54	No comment
TSC1	99.22	No comment
TSC2	98.76	No comment
TSC22D3	98.85	No comment
TSEN15	99.17	No comment
TSEN2	99.38	No comment
TSEN34	99.39	No comment
TSEN54	96.81	No comment
TSFM	91.27	No comment
TSHB	99.78	No comment
TSHR	99.48	No comment
TSPAN7	97.97	No comment
TSPAN8	98.82	No comment
TTBK2	98.86	No comment
TTC19	96.22	No comment
SKIC3	99.15	No comment
TTC5	99.03	No comment
TTC7A	98.98	No comment
TTC8	98.53	No comment
TTI2	99.31	No comment
TTN	99.43	No comment
TTPA	96.73	No comment
TTR	98.18	No comment
TUBA1A	99.98	No comment
TUBA8	99.57	No comment
TUBAL3	99.75	No comment
TUBB	99.92	No comment
TUBB2A	99.92	No comment
TUBB2B	99.64	No comment
TUBB3	99.69	No comment
TUBB4A	99.78	No comment
TUBG1	99.68	No comment
TUBGCP4	98.92	No comment
TUBGCP6	99.55	No comment
TUFM	99.36	No comment
TUSC3	99.50	No comment
TWIST1	87.92	No comment
TWIST2	99.24	No comment
TXNL4A	99.72	No comment
TYR	99.29	No comment
TYRP1	99.39	No comment
UBA5	98.17	No comment
UBE2A	88.22	No comment
UBE3A	99.06	No comment
UBE3B	98.65	No comment
UBR1	99.11	No comment
UBR4	98.90	No comment
UBR7	97.01	No comment
UBTF	99.61	No comment
UFC1	99.37	No comment
UFM1	99.16	No comment
UGP2	98.46	No comment
UGT1A1	99.45	No comment
UMPS	98.48	No comment
UNC13A	99.25	No comment
UNC80	98.86	No comment
UPB1	99.39	No comment
UPF3B	94.60	No comment
UQCRB	99.87	No comment
UQCRQ	99.36	No comment
UROC1	99.06	No comment
UROS	99.56	No comment
USB1	99.41	No comment
USP18	99.79	No comment
USP27X	99.46	No comment
USP7	99.02	No comment
USP9X	95.44	No comment
UTP14A	97.77	No comment
UVSSA	99.24	No comment
VAMP1	96.99	No comment
VAMP2	99.53	No comment
VAMP7	96.50	No comment
VARS1	99.74	No comment
VDR	97.94	No comment
CPAMD8	98.98	No comment
VIPAS39	98.17	No comment
VLDLR	99.08	No comment
VPS11	99.39	No comment
VPS13B	98.28	No comment
VPS33B	99.23	No comment
VPS35	99.22	No comment
VPS51	99.19	No comment
VPS53	97.29	No comment
VRK1	98.70	No comment
VSX2	98.36	No comment
WAC	98.16	No comment
WARS2	99.20	No comment
WASF1	98.47	No comment
WDFY3	99.10	No comment
WDPCP	98.96	No comment
WDR11	99.19	No comment
WDR13	96.77	No comment
WDR19	98.40	No comment
WDR26	98.93	No comment
DYNC2I2	98.79	No comment
WDR35	99.09	No comment
WDR37	99.18	No comment
WDR4	98.27	No comment
WDR45	97.90	No comment
WDR45B	99.15	No comment
DYNC2I1	98.85	No comment
WDR62	99.01	No comment
WDR73	99.05	No comment
WDR81	99.65	No comment
WFS1	99.63	No comment
NSD2	99.05	No comment
WIPI2	98.93	No comment
WNK3	97.70	No comment
WNT1	98.69	No comment
WNT10B	98.91	No comment
WNT3	99.00	No comment
WNT4	93.68	No comment
WNT5A	98.73	No comment
WNT7A	99.49	No comment
WRAP53	98.86	No comment
WRN	98.36	No comment
WT1	98.77	No comment
WWC3	96.63	No comment
WWOX	99.58	No comment
XIAP	97.48	No comment
XK	96.00	No comment
XKRX	98.90	No comment
XPA	99.29	No comment
XPC	98.92	No comment
XPNPEP3	99.18	No comment
XRCC4	98.59	No comment
XYLT1	90.22	No comment
YAP1	98.22	No comment
YARS1	99.78	No comment
YWHAG	99.64	No comment
YY1	98.44	No comment
ZBTB11	99.16	No comment
ZBTB16	99.58	No comment
ZBTB18	98.72	No comment
ZBTB20	99.54	No comment
ZBTB24	99.82	No comment
ZBTB40	99.17	No comment
ZC3H14	98.92	No comment
ZC4H2	96.37	No comment
ZCCHC12	98.81	No comment
ZCCHC8	92.04	No comment
ZDHHC15	90.89	No comment
ZDHHC9	97.43	No comment
ZEB2	98.91	No comment
ZFHX4	99.34	No comment
ZFP57	99.93	No comment
ZFX	98.98	No comment
ZFYVE26	99.08	No comment
ZIC1	99.80	No comment
ZIC2	89.81	No comment
ZIC3	99.00	No comment
ZMIZ1	99.16	No comment
ZMPSTE24	98.12	No comment
ZMYM3	97.06	No comment
ZMYM6	98.59	No comment
ZMYND11	99.29	No comment
ZMYND12	98.18	No comment
ZNF142	99.52	No comment
ZNF148	99.29	No comment
ZNF292	99.59	No comment
ZNF335	98.86	No comment
ZNF41	99.12	No comment
ZNF425	99.39	No comment
ZNF462	99.73	No comment
ZNF526	99.70	No comment
ZNF592	99.65	No comment
ZNF599	99.82	No comment
ZNF674	98.90	No comment
ZNF711	97.16	No comment
ZNF713	99.38	No comment
ZNF81	99.07	No comment
ZSWIM6	88.76	No comment

Intellectual disability/Epilepsy (1091 genes) - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	99.35	Vissers et al., EJHG 2015 : Noonan syndrome
ABCC9	99.41	Hypertrichotic osteochondrodysplasia
ABCD1	99.49	Adrenoleukodystrophy
ABHD5	98.48	Chanarin-Dorfman syndrome
ACAD9	99.57	Mitochondrial complex I deficiency due to ACAD9 deficiency
ACO2	99.66	Infantile cerebellar-retinal degeneration
ACOX1	99.49	Peroxisomal acyl-CoA oxidase deficiency
ACSL4	91.09	Mental retardation, X-linked 63
ACTB	99.34	Baraitser-Winter syndrome 1
ACTG1	99.69	Baraitser-Winter syndrome 2
ACY1	99.67	Aminoacylase 1 deficiency
ADAR	99.45	Aicardi-Goutieres syndrome 6
ADAT3	81.40	Mental retardation, autosomal recessive 36
ADGRG1	99.67	Polymicrogyria, bilateral frontoparietal
ADK	98.74	Hypermethioninemia due to adenosine kinase deficiency
ADNP	99.55	Helsmoortel-van der Aa syndrome
ADSL	99.58	Adenylosuccinase deficiency
AFF2	90.80	Mental retardation, X-linked, FRAXE type
AGA	99.60	Aspartylglucosaminuria
AGPAT2	91.26	Lipodystrophy, congenital generalized, type 1
AHCY	99.67	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHDC1	99.68	Xia-Gibbs syndrome
AHI1	99.05	Joubert syndrome 3
AIMP1	96.88	Leukodystrophy, hypomyelinating, 3
AKT3	98.82	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ALDH18A1	99.66	Cutis laxa, autosomal recessive, type IIIA
ALDH3A2	99.31	Sjogren-Larsson syndrome
ALDH4A1	96.44	Hyperprolinemia, type II
ALDH5A1	93.04	Succinic semialdehyde dehydrogenase deficiency
ALDH7A1	99.00	Epilepsy, pyridoxine-dependent
ALG1	99.43	Congenital disorder of glycosylation, type Ik
ALG11	99.57	Congenital disorder of glycosylation, type Ip
ALG12	99.69	Congenital disorder of glycosylation, type Ig
ALG13	92.88	Epileptic encephalopathy, early infantile, 36
ALG2	97.14	Myasthenic syndrome, congenital, 14, with tubular aggregates
ALG3	99.59	Congenital disorder of glycosylation, type Id
ALG6	98.36	Congenital disorder of glycosylation, type Ic
ALG9	96.33	Gillessen-Kaesbach-Nishimura syndrome
ALMS1	98.27	Alstrom syndrome
ALX1	99.52	Frontonasal dysplasia 3
ALX4	99.07	Frontonasal dysplasia 2
AMER1	99.96	Osteopathia striata with cranial sclerosis
AMPD2	99.69	Pontocerebellar hypoplasia, type 9
AMT	99.69	Glycine encephalopathy
ANK3	99.47	Mental retardation, autosomal recessive, 37
ANKH	99.64	Craniometaphyseal dysplasia
ANKRD11	99.68	KBG syndrome
AP1S1	99.50	MEDNIK syndrome
AP1S2	88.78	Mental retardation, X-linked syndromic 5
AP4B1	99.61	Spastic paraplegia 47, autosomal recessive
AP4M1	99.68	Spastic paraplegia 50, autosomal recessive
AP4S1	99.48	Spastic paraplegia 52, autosomal recessive
APTX	99.02	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ARCN1	99.27	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
ARFGEF2	99.31	Periventricular heterotopia with microcephaly
ARG1	99.53	Argininemia
ARHGAP31	99.60	Adams-Oliver syndrome 1
ARHGEF2	99.64	Neurodevelopmental disorder with midbrain and hindbrain malformations
ARHGEF9	97.26	Epileptic encephalopathy, early infantile, 8
ARID1A	97.02	Coffin-Siris syndrome 2
ARID1B	97.57	Coffin-Siris syndrome 1
ARID2	99.33	Coffis-Siris syndrome 6
ARL13B	98.36	Joubert syndrome 8
ARL6	99.09	Bardet-Biedl syndrome 3
ARSL	90.38	Chondrodysplasia punctata, X-linked recessive
ARX	65.25	Mental retardation, X-linked 29 and others
ASH1L	99.53	Okamoto et al., AJMG 2017 : MCA/ID syndrome
ASNS	99.42	Asparagine synthetase deficiency
ASPA	99.17	Canavan disease
ASPM	98.50	Microcephaly 5, primary, autosomal recessive
ASXL1	95.03	Bohring-Opitz syndrome
ASXL3	98.20	Bainbridge-Ropers syndrome
ATIC	96.73	AICA-ribosiduria due to ATIC deficiency
ATP6V0A2	99.12	Cutis laxa, autosomal recessive, type IIA
ATP7A	94.32	Menkes disease
ATR	99.17	Seckel syndrome 1
ATRIP	95.19	Ogi et al., PLoS Genet 2012 : Seckel syndrome
ATRX	92.10	Mental retardation-hypotonic facies syndrome, X-linked
AUH	96.75	3-methylglutaconic aciduria, type I
AUTS2	97.55	Mental retardation, autosomal dominant 26
B3GLCT	92.21	Peters-plus syndrome
B4GALT1	98.41	Congenital disorder of glycosylation, type IId
B4GALT7	83.36	Ehlers-Danlos syndrome with short stature and limb anomalies
BBIP1	99.64	Bardet-Biedl syndrome 18
BBS1	99.66	Bardet-Biedl syndrome 1
BBS10	99.57	Bardet-Biedl syndrome 10
BBS12	99.52	Bardet-Biedl syndrome 12
BBS2	99.32	Bardet-Biedl syndrome 2
BBS4	99.49	Bardet-Biedl syndrome 4
BBS5	98.49	Bardet-Biedl syndrome 5
BBS7	99.00	Bardet-Biedl syndrome 7
BBS9	98.68	Bardet-Biedl syndrome 9
BCKDHB	98.82	Maple syrup urine disease, type Ib
BCL11A	99.16	Dias-Logan syndrome
BCOR	96.85	Microphthalmia, syndromic 2
BCS1L	99.69	Leigh syndrome
BLM	99.07	Bloom syndrome
BRAF	94.78	Noonan syndrome 7
BRPF1	99.67	Intellectual developmental disorder with dysmorphic facies and ptosis
BRWD3	93.74	Mental retardation, X-linked 93
BSCL2	99.67	Encephalopathy, progressive, with or without lipodystrophy
BTD	99.68	Biotinidase deficiency
BUB1B	99.40	Mosaic variegated aneuploidy syndrome 1
C12ORF57	99.69	Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, Ã©pilepsie.
C19ORF12	99.69	Neurodegeneration with brain iron accumulation 4
C2CD3	99.44	Orofaciodigital syndrome XIV
CPLANE1	98.89	Joubert syndrome 17
CA8	99.19	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
CACNA1A	99.12	Epileptic encephalopathy, early infantile, 42
CACNA1C	99.65	Timothy syndrome
CACNA1D	99.50	Primary aldosteronism, seizures, and neurologic abnormalities
CAMK2A	99.67	Mental retardation, autosomal dominant 53
CAMK2B	96.34	Mental retardation, autosomal dominant 54
CANT1	99.60	Desbuquois dysplasia 1
CASK	95.36	Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CAV1	99.67	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CAVIN1	99.31	Lipodystrophy, congenital generalized, type 4
CBL	99.54	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CBS	99.69	Homocystinuria, B6-responsive and nonresponsive types
CC2D1A	99.64	Mental retardation, autosomal recessive 3
CC2D2A	99.11	Joubert syndrome 9
CCDC22	99.91	Ritscher-Schinzel syndrome 2
CCDC39	98.07	Ciliary dyskinesia, primary, 14
CCDC78	99.69	Myopathy, centronuclear, 4
CCDC88C	99.38	Hydrocephalus, nonsyndromic, autosomal recessive
CD96	99.13	C syndrome
CDC45	99.57	Meier-Gorlin syndrome 7
CDC6	99.32	Meier-Gorlin syndrome 5
CDH15	96.19	Mental retardation, autosomal dominant 3
CDK13	95.39	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
CDK5RAP2	99.45	Microcephaly 3, primary, autosomal recessive
CDKL5	87.62	Epileptic encephalopathy, early infantile, 2
CDON	98.90	Holoprosencephaly 11
CDT1	89.72	Meier-Gorlin syndrome 4
CENPJ	99.19	Microcephaly 6, primary, autosomal recessive
CEP135	97.81	Microcephaly 8, primary, autosomal recessive
CEP152	98.40	Microcephaly 9, primary, autosomal recessive
CEP290	97.64	Joubert syndrome 5
CEP41	99.07	Joubert syndrome 15
CEP57	99.09	Mosaic variegated aneuploidy syndrome 2
CEP63	99.06	Seckel syndrome 6
CHAMP1	99.63	Mental retardation, autosomal dominant 40
CHAT	97.70	Myasthenic syndrome, congenital, 6, presynaptic
CHD2	99.18	Epileptic encephalopathy, childhood-onset
CHD4	99.65	Sifrim-Hitz-Weiss syndrome
CHD7	99.53	CHARGE syndrome
CHD8	99.58	Autism, susceptibility to, 18
CHKB	97.97	Muscular dystrophy, congenital, megaconial type
CHMP1A	99.59	Pontocerebellar hypoplasia, type 8
CHRNA4	90.96	Epilepsy, nocturnal frontal lobe, 1
CHRND	99.68	Myasthenic syndrome, congenital, 3B, fast-channel
CISD2	98.61	Wolfram syndrome 2
CLCN4	99.27	Mental retardation, X-linked 49/15
CLN3	99.69	Ceroid lipofuscinosis, neuronal, 3
CLN5	97.69	Ceroid lipofuscinosis, neuronal, 5
CLN6	85.06	Ceroid lipofuscinosis, neuronal, 6
CLN8	99.69	Ceroid lipofuscinosis, neuronal, 8
CLP1	99.68	Pontocerebellar hypoplasia, type 10
CLPB	99.62	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
CNKSR2	91.50	Houge et al., Mol Syndromol 2012 : ID
CNTNAP2	99.39	Pitt-Hopkins like syndrome 1
COASY	99.68	Neurodegeneration with brain iron accumulation 6
COG1	98.34	Congenital disorder of glycosylation, type IIg
COG5	99.11	Congenital disorder of glycosylation, type IIi
COG6	98.39	Congenital disorder of glycosylation, type IIl
COG7	99.66	Congenital disorder of glycosylation, type IIe
COG8	97.38	Congenital disorder of glycosylation, type IIh
COL4A1	97.86	Porencephaly 1
COL4A2	99.62	Porencephaly 2
CERT1	99.15	Mental retardation, autosomal dominant 34
COLEC10	99.16	Mental retardation, autosomal dominant 34
COLEC11	99.67	3MC syndrome 2
COQ2	94.52	Coenzyme Q10 deficiency, primary, 1
COQ4	98.74	Coenzyme Q10 deficiency, primary, 7
COQ6	99.60	Coenzyme Q10 deficiency, primary, 6
COQ7	99.40	Coenzyme Q10 deficiency, primary, 8
COQ8A	99.69	Coenzyme Q10 deficiency, primary, 4
COQ9	98.23	Coenzyme Q10 deficiency, primary, 5
COX10	99.65	Leigh syndrome due to mitochondrial COX4 deficiency
CRADD	99.63	Mental retardation, autosomal recessive 34, with variant lissencephaly
CRBN	98.86	Mental retardation, autosomal recessive 2
CREBBP	99.62	Rubinstein-Taybi syndrome 1
CSNK2A1	99.32	Okur-Chung neurodevelopmental syndrome
CSPP1	98.95	Joubert syndrome 21
CTC1	99.57	Cerebroretinal microangiopathy with calcifications and cysts
CTCF	99.65	Mental retardation, autosomal dominant 21
CTNNB1	99.65	Mental retardation, autosomal dominant 19
CTSA	99.59	Galactosialidosis
CTSD	94.51	Ceroid lipofuscinosis, neuronal, 10
CUL4B	84.65	Mental retardation, X-linked, syndromic 15 (Cabezas type)
CYB5R3	88.44	Methemoglobinemia, type I
CYP27A1	97.94	Cerebrotendinous xanthomatosis
D2HGDH	98.50	D-2-hydroxyglutaric aciduria
DAG1	99.69	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
DARS2	99.20	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DCAF17	93.81	Woodhouse-Sakati syndrome
DCC	99.55	Mirror movements 1 and/or agenesis of the corpus callosum
DCPS	99.69	Al-Raqad syndrome
DCX	96.94	Lissencephaly, X-linked
DDB2	99.69	Xeroderma pigmentosum, group E, DDB-negative subtype
DDHD2	97.74	Spastic paraplegia 54, autosomal recessive
DDX11	99.66	Warsaw breakage syndrome
DDX3X	96.52	Mental retardation, X-linked 102
DEAF1	92.63	Mental retardation, autosomal dominant 24
DHCR24	99.34	Desmosterolosis
DHCR7	99.68	Smith-Lemli-Opitz syndrome
DHFR	98.50	Megaloblastic anemia due to dihydrofolate reductase deficiency
DHX30	99.51	Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
DIAPH1	95.85	Seizures, cortical blindness, microcephaly syndrome
DKC1	91.60	Dyskeratosis congenita, X-linked
DLD	99.08	Dihydrolipoamide dehydrogenase deficiency
DLG3	98.91	Mental retardation, X-linked 90
DLL4	99.61	Adams-Oliver syndrome 6
DNAJC19	97.60	3-methylglutaconic aciduria, type V
DNM1	96.84	Epileptic encephalopathy, early infantile, 31
DNMT3A	99.69	Tatton-Brown-Rahman syndrome
DNMT3B	99.69	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DOCK6	97.92	Adams-Oliver syndrome 2
DOCK8	99.24	Hyper-IgE recurrent infection syndrome, autosomal recessive
DPAGT1	99.68	Congenital disorder of glycosylation, type Ij
DPH1	99.67	Developmental delay with short stature, dysmorphic features, and sparse hair
DPM1	99.27	Congenital disorder of glycosylation, type Ie
DPP6	99.57	Mental retardation, autosomal dominant 33
DSCAM	99.29	Wang et al., Nat Commun 2016 : Autisme
DYNC1H1	99.50	Mental retardation, autosomal dominant 13
DYRK1A	99.53	Mental retardation, autosomal dominant 7
EARS2	99.64	Combined oxidative phosphorylation deficiency 12
EBF3	98.59	Hypotonia, ataxia, and delayed development syndrome
EBP	99.89	MEND syndrome
ECHS1	98.49	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EDC3	99.68	Mental retardation, autosomal recessive 50
EEF1A2	88.74	Mental retardation, autosomal dominant 38
EFNB1	99.39	Craniofrontonasal dysplasia
EFTUD2	99.44	Mandibulofacial dysostosis, Guion-Almeida type
EHMT1	95.40	Kleefstra syndrome
EIF2AK3	94.12	Wolcott-Rallison syndrome
EIF2S3	97.88	Mental retardation, X-linked, syndromic, Borck type
ELOVL4	99.45	Ichthyosis, spastic quadriplegia, and mental retardation
ELP2	98.99	Mental retardation, autosomal recessive 58
EML1	96.28	Band heterotopia
EMX2	99.48	Schizencephaly
ENTPD1	99.05	Spastic paraplegia 64, autosomal recessive
EOGT	99.33	Adams-Oliver syndrome 4
EP300	99.56	Rubinstein-Taybi syndrome 2
EPB41L1	99.69	Mental retardation, autosomal dominant 11
EPG5	99.47	Vici syndrome
ERCC2	99.67	Cerebrooculofacioskeletal syndrome 2
ERCC3	99.68	Xeroderma pigmentosum, group B
ERCC4	99.35	Xeroderma pigmentosum, type F/Cockayne syndrome
ERCC5	99.48	Xeroderma pigmentosum, group G/Cockayne syndrome
ERCC6	99.07	Cerebrooculofacioskeletal syndrome 1
ERCC8	99.27	Cockayne syndrome, type A
ERLIN2	99.32	Spastic paraplegia 18, autosomal recessive
ESCO2	98.50	Roberts syndrome
ETHE1	99.60	Ethylmalonic encephalopathy
EXOSC3	99.53	Pontocerebellar hypoplasia, type 1B
EZH2	99.41	Weaver syndrome
EZR	99.63	Riecken et al., Hum Mut 2015 : ID
HYCC1	98.81	Leukodystrophy, hypomyelinating, 5
FARS2	99.56	Combined oxidative phosphorylation deficiency 14
FAT4	99.39	Van Maldergem syndrome 2
FBXL4	99.46	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
FBXO31	93.34	Mental retardation, autosomal recessive 45
FGD1	98.23	Mental retardation, X-linked syndromic 16
FGFR1	99.69	Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR2	99.67	Saethre-Chotzen syndrome
FGFR3	95.86	Crouzon syndrome with acanthosis nigricans
FH	99.29	Fumarase deficiency
FKRP	85.03	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
FKTN	99.13	Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
FLNA	99.73	Heterotopia, periventricular
FMN2	99.05	Mental retardation, autosomal recessive 47
FMR1	94.48	Fragile X tremor/ataxia syndrome
FOLR1	99.69	Neurodegeneration due to cerebral folate transport deficiency
FOXG1	84.20	Rett syndrome, congenital variant
FOXP1	99.55	Mental retardation with language impairment and with or without autistic features
FOXP2	99.34	Speech-language disorder-1
FOXRED1	99.63	Leigh syndrome due to mitochondrial complex I deficiency
FRAS1	99.57	Fraser syndrome 1
FREM2	99.23	Fraser syndrome 2
FRMPD4	96.56	Mental retardation, X-linked 104
FTCD	95.82	Glutamate formiminotransferase deficiency
FTL	99.55	Neurodegeneration with brain iron accumulation 3
FTO	99.47	Growth retardation, developmental delay, facial dysmorphism
FTSJ1	99.69	Mental retardation, X-linked 9/44
FUCA1	98.18	Fucosidosis
GABRA3	87.08	Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
GABRB3	94.66	Epileptic encephalopathy, early infantile, 43
GABRG2	99.57	Epilepsy, generalized, with febrile seizures plus, type 3
GALT	99.68	Galactosemia
GAMT	93.42	Cerebral creatine deficiency syndrome 2
GAN	98.90	Giant axonal neuropathy-1
GATAD2B	99.69	Mental retardation, autosomal dominant 18
GATM	94.01	Cerebral creatine deficiency syndrome 3
GBE1	98.82	Glycogen storage disease IV
GCH1	93.92	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
GCSH	86.02	Glycine encephalopathy
GDI1	95.21	Mental retardation, X-linked 41
GFAP	99.69	Alexander disease
GJC2	73.70	Leukodystrophy, hypomyelinating, 2
GLB1	99.56	GM1-gangliosidosis, type I
GLDC	97.83	Glycine encephalopathy
GLI2	98.60	Holoprosencephaly 9
GLI3	99.55	Greig cephalopolysyndactyly syndrome
GLUL	99.68	Glutamine deficiency, congenital
GLYCTK	99.69	D-glyceric aciduria
GM2A	99.68	GM2-gangliosidosis, AB variant
GMPPA	99.69	Alacrima, achalasia, and mental retardation syndrome
GMPPB	99.64	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
GNAI3	99.08	Auriculocondylar syndrome 1
GNAO1	99.66	Epileptic encephalopathy, early infantile, 17
GNAS	97.96	Pseudohypoparathyroidism Ia
GNPAT	97.06	Rhizomelic chondrodysplasia punctata, type 2
GNPTAB	99.49	Mucolipidosis II alpha/beta
GNPTG	90.19	Mucolipidosis III gamma
GNS	99.55	Mucopolysaccharidosis type IIID
GPC3	91.66	Simpson-Golabi-Behmel syndrome, type 1
GPHN	99.58	Molybdenum cofactor deficiency C
GPSM2	99.10	Chudley-McCullough syndrome
GPT2	95.20	Mental retardation, autosomal recessive 49
GRIA3	89.99	Mental retardation, X-linked 94
GRID2	99.47	Spinocerebellar ataxia, autosomal recessive 18
GRIK2	99.13	Mental retardation, autosomal recessive, 6
GRIN1	99.54	Mental retardation, autosomal dominant 8
GRIN2A	99.68	Epilepsy, focal, with speech disorder and with or without mental retardation
GRIN2B	99.66	Mental retardation, autosomal dominant 6
GRIP1	99.65	Fraser syndrome 3
GRM1	99.46	Spinocerebellar ataxia 44
GSS	99.59	Glutathione synthetase deficiency
GTF2E2	98.86	Trichothiodystrophy 6, nonphotosensitive
GTF2H5	99.64	Trichothiodystrophy 3, photosensitive
GTPBP3	97.37	Combined oxidative phosphorylation deficiency 23
GUSB	98.73	Mucopolysaccharidosis VII
HACE1	96.37	Spastic paraplegia and psychomotor retardation with or without seizures
HCFC1	99.76	Spastic paraplegia and psychomotor retardation with or without seizures
HCN1	94.14	Epileptic encephalopathy, early infantile, 24
HDAC4	99.68	Fisch et al., AJMG 2016 : ID
HDAC8	99.17	Cornelia de Lange syndrome 5
HECW2	99.50	Neurodevelopmental disorder with hypotonia, seizures, and absent language
HEPACAM	91.30	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
HERC1	99.49	Macrocephaly, dysmorphic facies, and psychomotor retardation
HERC2	99.66	Mental retardation, autosomal recessive 38
HESX1	98.36	Growth hormone deficiency with pituitary anomalies
HEXA	99.67	Tay-Sachs disease
HEXB	97.84	Sandhoff disease, infantile, juvenile, and adult forms
HGSNAT	94.00	Mucopolysaccharidosis type IIIC (Sanfilippo C)
HIVEP2	99.60	Mental retardation, autosomal dominant 43
HLCS	99.60	Holocarboxylase synthetase deficiency
HNMT	99.26	Mental retardation, autosomal recessive 51
HNRNPH2	99.85	Mental retardation, X-linked, syndromic, Bain type
HNRNPK	99.17	Au-Kline syndrome
HNRNPU	98.33	Epileptic encephalopathy, early infantile, 54
HOXA1	99.65	Athabaskan brainstem dysgenesis syndrome
HPRT1	75.78	Lesch-Nyhan syndrome
HRAS	99.69	Costello syndrome
HSD17B10	99.97	HSD10 mitochondrial disease
HSPG2	98.62	Dyssegmental dysplasia, Silverman-Handmaker type
HUWE1	97.92	Mental retardation, X-linked syndromic, Turner type
IARS1	99.32	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
IARS2	99.11	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
IDS	97.07	Mucopolysaccharidosis II
IDUA	77.72	Mucopolysaccharidosis Ih/s
IER3IP1	98.86	Microcephaly, epilepsy, and diabetes syndrome
IFIH1	99.07	Aicardi-Goutieres syndrome 7
IFT172	99.62	Short-rib thoracic dysplasia 10 with or without polydactyly
IFT27	99.69	Bardet-Biedl syndrome 19
IFT57	98.66	Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
IGF1	99.63	Growth retardation with deafness and mental retardation due to IGF1 deficiency
IL1RAPL1	93.86	Mental retardation, X-linked 21/34
INPP5E	98.14	Joubert syndrome 1
INTU	98.49	Bruel et al., JMG 2017 : oro-facial-digital syndrome
IQSEC2	97.05	Mental retardation, X-linked 1/78
IRX5	89.09	Hamamy syndrome
CRPPA	92.51	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ITGA7	99.67	Muscular dystrophy, congenital, due to ITGA7 deficiency
ITPR1	99.38	Spinocerebellar ataxia 29, congenital nonprogressive
JAM3	99.20	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
KANSL1	99.63	Koolen-De Vries syndrome
KAT6A	99.60	Mental retardation, autosomal dominant 32
KAT6B	99.21	Genitopatellar syndrome
KCNC1	99.05	Epilepsy, progressive myoclonic 7
KCNC3	76.28	Spinocerebellar ataxia 13
KCNH1	98.56	Temple-Baraitser syndrome
KCNJ10	99.68	SESAME syndrome
KCNJ11	99.69	Diabetes, permanent neonatal, with or without neurologic features
KCNK9	99.67	Birk-Barel mental retardation dysmorphism syndrome
KCNMA1	99.54	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
KCNQ2	98.93	Epileptic encephalopathy, early infantile, 7
KCNQ5	96.45	Mental retardation, autosomal dominant 46
KCNT1	98.70	Epileptic encephalopathy, early infantile, 14
KCTD7	95.20	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
KDM1A	96.83	Cleft palate, psychomotor retardation, and distinctive facial features
KDM5C	99.87	Mental retardation, X-linked, syndromic, Claes-Jensen type
KDM6A	94.07	Kabuki syndrome 2
KIAA0586	92.34	Joubert syndrome 23
KIAA0753	99.23	Orofaciodigital syndrome XV
NEXMIF	97.66	Mental retardation, X-linked 98
KIF11	98.74	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
KIF1A	99.66	Mental retardation, autosomal dominant 9
KIFBP	96.44	Goldberg-Shprintzen megacolon syndrome
KIF4A	99.41	Mental retardation, X-linked 100
KIF5A	99.35	Myoclonus, intractable, neonatal
KIF5C	96.19	Cortical dysplasia, complex, with other brain malformations 2
KIF7	99.42	Joubert syndrome 12
KIRREL3	99.66	Mental retardation, autosomal dominant 4
KLC2	99.69	Spastic paraplegia, optic atrophy, and neuropathy
KMT2A	97.93	Wiedemann-Steiner syndrome
KMT2C	99.31	Kleefstra syndrome 2
KMT2D	99.67	Kabuki syndrome 1
KMT2E	98.54	Dong et al., Cell Rep 2014 : trouble du spectre autistique
KMT5B	99.31	Stessman et al., Nat Genet 2017 : autisme et retard dÃ©veloppemental
KNL1	92.70	Microcephaly 4, primary, autosomal recessive
KPTN	99.37	Mental retardation, autosomal recessive 41
KRAS	99.32	Noonan syndrome 3
L1CAM	99.66	CRASH syndrome
L2HGDH	98.45	L-2-hydroxyglutaric aciduria
LAMA1	99.13	Poretti-Boltshauser syndrome
LAMA2	99.46	Muscular dystrophy, congenital, due to partial LAMA2 deficiency
LAMB1	99.50	Lissencephaly 5
LAMC3	97.99	Cortical malformations, occipital
LAMP2	93.32	Danon disease
LARGE1	99.64	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LARP7	97.40	Alazami syndrome
LAS1L	99.76	Wilson-Turner syndrome
LIAS	98.94	Hyperglycinemia, lactic acidosis, and seizures
LIG4	99.55	LIG4 syndrome
LINS1	98.65	Mental retardation, autosomal recessive 27
LIPT1	98.69	Lipoyltransferase 1 deficiency
LMBRD1	96.94	Methylmalonic aciduria and homocystinuria, cblF type
LMNA	99.49	Emery-Dreifuss muscular dystrophy 3, AR
LRP2	99.40	Donnai-Barrow syndrome
LZTFL1	98.67	Bardet-Biedl syndrome 17
LZTR1	99.56	Noonan syndrome 10
MAGEL2	98.06	Schaaf-Yang syndrome
MAN1B1	98.88	Mental retardation, autosomal recessive 15
MAN2B1	99.40	Mannosidosis, alpha-, types I and II
MANBA	99.01	Mannosidosis, beta
MAOA	85.51	Brunner syndrome
MAP2K1	99.62	Cardiofaciocutaneous syndrome 3
MAP2K2	99.01	Cardiofaciocutaneous syndrome 4
MASP1	99.59	3MC syndrome 1
MAT1A	99.66	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
MBD5	99.52	Mental retardation, autosomal dominant 1
MBOAT7	99.50	Mental retardation, autosomal recessive 57
MBTPS2	96.46	IFAP syndrome with or without BRESHECK syndrome
MCCC1	99.50	3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCOLN1	93.43	Mucolipidosis IV
MCPH1	98.40	Microcephaly 1, primary, autosomal recessive
MECP2	89.77	Rett syndrome
MED12	99.82	Opitz-Kaveggia syndrome
MED13L	99.52	Mental retardation and distinctive facial features with or without cardiac defects
MED17	98.79	Microcephaly, postnatal progressive, with seizures and brain atrophy
MED23	98.87	Mental retardation, autosomal recessive 18
MEF2C	99.52	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
MEIS2	99.65	Cleft palate, cardiac defects, and mental retardation
METTL23	99.62	Mental retardation, autosomal recessive 44
MFSD8	99.30	Ceroid lipofuscinosis, neuronal, 7
MID1	97.46	Opitz GBBB syndrome, type I
MKKS	99.58	Bardet-Biedl syndrome 6
MKS1	99.54	Bardet-Biedl syndrome 13
MLYCD	87.33	Malonyl-CoA decarboxylase deficiency
MMACHC	99.68	Methylmalonic aciduria and homocystinuria, cblC type
MOCS1	99.68	Molybdenum cofactor deficiency A
MOCS2	99.48	Molybdenum cofactor deficiency B
MOGS	92.25	Congenital disorder of glycosylation, type IIb
MPDU1	99.69	Congenital disorder of glycosylation, type If
MPDZ	99.22	Hydrocephalus, nonsyndromic, autosomal recessive 2
MPLKIP	99.63	Trichothiodystrophy 4, nonphotosensitive
MTFMT	97.00	Combined oxidative phosphorylation deficiency 15
MTHFR	99.58	Homocystinuria due to MTHFR deficiency
MTM1	94.11	Myotubular myopathy, X-linked
MTOR	99.61	Smith-Kingsmore syndrome
MTR	99.55	Homocystinuria-megaloblastic anemia, cblG complementation type
MTRR	99.33	Homocystinuria-megaloblastic anemia, cbl E type
MVK	99.69	Mevalonic aciduria
MYCN	82.91	Feingold syndrome 1
MYO5A	97.60	Griscelli syndrome, type 1
MYT1L	99.59	Mental retardation, autosomal dominant 39
NAA10	87.47	Ogden syndrome
NACC1	99.66	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
NAGA	99.67	Schindler disease, type I
NAGLU	84.28	Mucopolysaccharidosis type IIIB (Sanfilippo B)
NALCN	99.38	Congenital contractures of the limbs and face, hypotonia, and developmental delay
NARS2	98.96	Combined oxidative phosphorylation deficiency 24
NBN	98.67	Nijmegen breakage syndrome
NDE1	99.69	Lissencephaly 4 (with microcephaly)
NDP	99.56	Norrie disease
NDST1	99.67	Mental retardation, autosomal recessive 46
NDUFA1	97.69	Mitochondrial complex I deficiency
NDUFA11	99.69	Mitochondrial complex I deficiency
NDUFA12	99.64	Leigh syndrome due to mitochondrial complex 1 deficiency
NDUFA2	99.69	Leigh syndrome due to mitochondrial complex I deficiency
NDUFA9	99.27	Leigh syndrome due to mitochondrial complex I deficiency
NDUFAF6	89.55	Leigh syndrome due to mitochondrial complex I deficiency
NDUFS2	99.25	Mitochondrial complex I deficiency
NDUFS3	99.67	Leigh syndrome due to mitochondrial complex I deficiency
NDUFS4	99.05	Mitochondrial complex I deficiency
NDUFS7	99.38	Leigh syndrome
NEDD4L	98.92	Periventricular nodular heterotopia 7
NFIA	99.44	Brain malformations and urinary tract defects
NFIX	99.64	Sotos syndrome 2
NGF	99.66	Neuropathy, hereditary sensory and autonomic, type V
NHEJ1	99.67	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHP2	99.64	Dyskeratosis congenita, autosomal recessive 2
NHS	88.25	Nance-Horan syndrome
NIN	99.20	Seckel syndrome 7
NIPBL	98.53	Cornelia de Lange syndrome 1
NKX2-1	92.05	Choreoathetosis, hypothyroidism, and neonatal respiratory distress
NONO	98.37	Mental retardation, X-linked, syndromic 34
NOTCH1	96.74	Adams-Oliver syndrome 5
NPC1	98.34	Niemann-Pick disease, type C1
NPC2	99.67	Niemann-pick disease, type C2
NPHP1	99.24	Joubert syndrome 4
NPHP3	98.15	Meckel syndrome 7
NR2F1	86.66	Bosch-Boonstra-Schaaf optic atrophy syndrome
NR5A1	99.25	Adrenocortical insufficiency
NRAS	99.61	Noonan syndrome 6
NRXN1	99.52	Pitt-Hopkins-like syndrome 2
NSD1	99.26	Sotos syndrome 1
NSDHL	99.39	CHILD syndrome
NSUN2	95.86	Mental retardation, autosomal recessive 5
OCLN	99.47	Pseudo-TORCH syndrome 1
OCRL	92.17	Lowe syndrome
OFD1	92.99	Orofaciodigital syndrome I
OGT	96.41	Mental retardation, X-linked 106
OPHN1	90.64	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
ORC1	99.49	Meier-Gorlin syndrome 1
ORC4	98.60	Meier-Gorlin syndrome 2
ORC6	98.10	Meier-Gorlin syndrome 3
OSGEP	99.65	Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
OTC	92.10	Ornithine transcarbamylase deficiency
OTUD6B	97.03	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
PACS1	97.17	Schuurs-Hoeijmakers syndrome
PAFAH1B1	98.98	Lissencephaly 1
PAH	99.66	Phenylketonuria
PAK3	87.10	Mental retardation, X-linked 30/47
PANK2	95.75	Neurodegeneration with brain iron accumulation 1
PAX1	82.57	Otofaciocervical syndrome 2
PAX3	99.68	Craniofacial-deafness-hand syndrome
PAX6	99.51	Aniridia
PC	99.69	Pyruvate carboxylase deficiency
PCDH19	99.22	Epileptic encephalopathy, early infantile, 9
PCGF2	99.69	Fitzgerald et al., Nature 2015 : retard mental, retard dÃ©velopemental
PCNT	99.50	Microcephalic osteodysplastic primordial dwarfism, type II
PDE4D	97.76	Acrodysostosis 2, with or without hormone resistance
PDHA1	97.16	Pyruvate dehydrogenase E1-alpha deficiency
PDHB	99.40	Pyruvate dehydrogenase E1-beta deficiency
PDHX	98.49	Lacticacidemia due to PDX1 deficiency
PDSS1	82.84	Coenzyme Q10 deficiency, primary, 2
PDSS2	98.95	Coenzyme Q10 deficiency, primary, 3
PEPD	99.61	Prolidase deficiency
PEX1	98.83	Peroxisome biogenesis disorder 1A (Zellweger)
PEX10	83.86	Peroxisome biogenesis disorder 6A (Zellweger)
PEX11B	99.63	Peroxisome biogenesis disorder 14B
PEX12	99.40	Peroxisome biogenesis disorder 3A (Zellweger)
PEX13	99.25	Peroxisome biogenesis disorder 11A (Zellweger)
PEX14	99.66	Peroxisome biogenesis disorder 13A (Zellweger)
PEX16	99.69	Peroxisome biogenesis disorder 8A (Zellweger)
PEX19	99.60	Peroxisome biogenesis disorder 12A (Zellweger)
PEX2	99.69	Peroxisome biogenesis disorder 5A (Zellweger)
PEX26	96.96	Peroxisome biogenesis disorder 7A (Zellweger)
PEX3	98.89	Peroxisome biogenesis disorder 10A (Zellweger)
PEX5	99.15	Peroxisome biogenesis disorder 2A (Zellweger)
PEX6	98.57	Peroxisome biogenesis disorder 4A (Zellweger)
PEX7	90.36	Peroxisome biogenesis disorder 9B
PGAP1	97.25	Mental retardation, autosomal recessive 42
PGAP2	99.68	Hyperphosphatasia with mental retardation syndrome 3
PGAP3	99.15	Hyperphosphatasia with mental retardation syndrome 4
PGK1	99.16	Phosphoglycerate kinase 1 deficiency
PHC1	99.66	Microcephaly 11, primary, autosomal recessive
PHF6	84.23	Borjeson-Forssman-Lehmann syndrome
PHF8	99.04	Mental retardation syndrome, X-linked, Siderius type
PHGDH	99.67	Phosphoglycerate dehydrogenase deficiency
PHIP	95.93	Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obÃ©sitÃ© et dysmorphies
PIGA	92.30	Multiple congenital anomalies-hypotonia-seizures syndrome 2
PIGG	99.54	Mental retardation, autosomal recessive 53
PIGL	99.59	CHIME syndrome
PIGN	97.78	Multiple congenital anomalies-hypotonia-seizures syndrome 1
PIGO	99.67	Hyperphosphatasia with mental retardation syndrome 2
PIGT	99.63	Multiple congenital anomalies-hypotonia-seizures syndrome 3
PIGV	99.66	Hyperphosphatasia with mental retardation syndrome 1
PIGW	99.68	Hyperphosphatasia with mental retardation syndrome 5
PIGY	99.66	Hyperphosphatasia with mental retardation syndrome 6
PIK3R2	91.70	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PLA2G6	99.69	Neurodegeneration with brain iron accumulation 2B
PLCB1	99.15	Epileptic encephalopathy, early infantile, 12
PLCB4	99.09	Auriculocondylar syndrome 2
PLOD1	98.58	Ehlers-Danlos syndrome, type VI
PLP1	99.86	Pelizaeus-Merzbacher disease
PMM2	98.47	Congenital disorder of glycosylation, type Ia
PNKP	99.68	Microcephaly, seizures, and developmental delay
PNP	99.66	Immunodeficiency due to purine nucleoside phosphorylase deficiency
POC1A	99.26	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
POGZ	98.81	White-Sutton syndrome
POLG	99.59	Mitochondrial DNA depletion syndrome 4B (MNGIE type)
POLH	99.55	Xeroderma pigmentosum, variant type
POLR3A	99.40	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
POLR3B	99.29	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
POMGNT1	99.66	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
POMGNT2	99.69	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
POMK	99.66	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
POMT1	99.56	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
POMT2	98.42	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
PORCN	99.91	Focal dermal hypoplasia
PPM1D	98.20	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
PPP1CB	99.40	Noonan syndrome-like disorder with loose anagen hair 2
PPP2R1A	99.69	Mental retardation, autosomal dominant 36
PPP2R5D	99.64	Mental retardation, autosomal dominant 35
PPT1	99.67	Ceroid lipofuscinosis, neuronal, 1
PQBP1	99.90	Renpenning syndrome
PRICKLE1	99.67	Epilepsy, progressive myoclonic 1B
PRMT7	99.21	Short stature, brachydactyly, intellectual developmental disability, and seizures
PRPS1	98.61	Arts syndrome
PRSS12	98.69	Mental retardation, autosomal recessive 1
PSAP	99.68	Krabbe disease, atypical
PSMD12	99.44	Stankiewicz-Isidor syndrome
PTCH1	97.64	Holoprosencephaly 7
PTCHD1	99.37	Autism, susceptibility to, X-linked 4
PTDSS1	99.56	Lenz-Majewski hyperostotic dwarfism
PTEN	98.68	Cowden syndrome 1
PTPN11	97.30	LEOPARD syndrome 1
PUF60	99.56	Verheij syndrome
PURA	84.89	Mental retardation, autosomal dominant 31
PUS1	93.31	Myopathy, lactic acidosis, and sideroblastic anemia 1
PYCR1	99.67	Cutis laxa, autosomal recessive, type IIB
QDPR	96.67	Hyperphenylalaninemia, BH4-deficient, C
RAB18	98.43	Warburg micro syndrome 3
RAB27A	95.80	Griscelli syndrome, type 2
RAB39B	99.96	Mental retardation, X-linked 72
RAB3GAP1	99.24	Warburg micro syndrome 1
RAB3GAP2	99.14	Martsolf syndrome
RAC1	87.43	Mental retardation, autosomal dominant 48
RAD21	99.34	Cornelia de Lange syndrome 4
RAF1	99.65	Noonan syndrome 5
RAI1	97.85	Smith-Magenis syndrome
RARB	99.52	Microphthalmia, syndromic 12
RARS2	99.20	Pontocerebellar hypoplasia, type 6
RASA2	95.15	Aoki et al., JHG 2016 : RASopathie
RAX	78.51	Microphthalmia, isolated 3
RBBP8	96.69	Seckel syndrome 2
RBM10	99.86	TARP syndrome
RBM28	99.55	Alopecia, neurologic defects, and endocrinopathy syndrome
RBM8A	99.68	Thrombocytopenia-absent radius syndrome
RBPJ	99.36	Adams-Oliver syndrome 3
RECQL4	91.13	Baller-Gerold syndrome
RELN	99.47	Lissencephaly 2 (Norman-Roberts type)
RERE	99.45	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
RFT1	97.48	Congenital disorder of glycosylation, type In
RIT1	99.66	Noonan syndrome 8
RMND1	98.79	Combined oxidative phosphorylation deficiency 11
RNASEH2A	99.69	Aicardi-Goutieres syndrome 4
RNASEH2B	90.13	Aicardi-Goutieres syndrome 2
RNASEH2C	96.74	Aicardi-Goutieres syndrome 3
RNASET2	99.45	Leukoencephalopathy, cystic, without megalencephaly
RNF113A	99.85	Trichothiodystrophy 5, nonphotosensitive
ROGDI	90.00	Kohlschutter-Tonz syndrome
RPGRIP1L	95.44	Joubert syndrome 7
RPIA	98.01	Ribose 5-phosphate isomerase deficiency
RPS6KA3	85.79	Coffin-Lowry syndrome
RRAS	94.39	Flex et al., HMG 2014 : RASopathie
RTEL1	99.69	Dyskeratosis congenita, autosomal recessive 5
RTTN	98.71	Microcephaly, short stature, and polymicrogyria with seizures
SALL1	99.68	Townes-Brocks branchiootorenal-like syndrome
SAMHD1	99.47	Aicardi-Goutieres syndrome 5
SATB2	99.46	Glass syndrome
SC5D	99.08	Lathosterolosis
SCN1A	98.95	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
SCN2A	98.85	Epileptic encephalopathy, early infantile, 11
SCN8A	99.37	Epileptic encephalopathy, early infantile, 13
SCO2	99.68	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
SDCCAG8	99.19	Bardet-Biedl syndrome 16
SDHAF1	66.11	Mitochondrial complex II deficiency
SEPSECS	99.07	Pontocerebellar hypoplasia type 2D
SERAC1	98.98	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SETBP1	98.39	Mental retardation, autosomal dominant 29
SETD2	99.30	Luscan-Lumish syndrome
SETD5	99.55	Mental retardation, autosomal dominant 23
SGSH	96.47	Mucopolysaccharidosis type IIIA (Sanfilippo A)
SHANK2	83.77	Autism susceptibility 17
SHANK3	78.63	Phelan-McDermid syndrome
SHH	90.25	Holoprosencephaly 3
SHOC2	97.89	Noonan-like syndrome with loose anagen hair
SHROOM4	99.52	Stocco dos Santos X-linked mental retardation syndrome
SIL1	99.65	Marinesco-Sjogren syndrome
SIN3A	99.56	Witteveen-Kolk syndrome
SIX3	89.54	Holoprosencephaly 2
SKI	93.23	Shprintzen-Goldberg syndrome
SLC12A6	99.13	Agenesis of the corpus callosum with peripheral neuropathy
SLC16A2	99.71	Allan-Herndon-Dudley syndrome
SLC17A5	98.53	Salla disease
SLC19A3	99.50	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
SLC1A4	97.40	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
SLC25A1	86.05	Combined D-2- and L-2-hydroxyglutaric aciduria
SLC25A12	99.45	Epileptic encephalopathy, early infantile, 39
SLC25A15	99.57	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A19	99.66	Microcephaly, Amish type
SLC25A22	99.68	Epileptic encephalopathy, early infantile, 3
SLC2A1	93.34	GLUT1 deficiency syndrome 1, infantile onset, severe
SLC33A1	98.70	Congenital cataracts, hearing loss, and neurodegeneration
SLC35A2	99.98	Congenital disorder of glycosylation, type IIm
SLC35C1	99.69	Congenital disorder of glycosylation, type IIc
SLC45A1	92.61	Intellectual developmental disorder with neuropsychiatric features
SLC46A1	97.75	Folate malabsorption, hereditary
SLC4A4	99.23	Renal tubular acidosis, proximal, with ocular abnormalities
SLC6A1	99.61	Myoclonic-atonic epilepsy
SLC6A17	99.68	Mental retardation, autosomal recessive 48
SLC6A3	99.68	Parkinsonism-dystonia, infantile
SLC6A8	92.97	Cerebral creatine deficiency syndrome 1
SLC7A7	99.67	Lysinuric protein intolerance
SLC9A6	80.47	Mental retardation, X-linked syndromic, Christianson type
SMARCA2	97.63	Nicolaides-Baraitser syndrome
SMARCA4	99.68	Coffin-Siris syndrome 4
SMARCB1	99.47	Coffin-Siris syndrome 3
SMARCE1	98.87	Coffin-Siris syndrome 5
SMC1A	97.41	Cornelia de Lange syndrome 2
SMC3	98.62	Cornelia de Lange syndrome 3
SMOC1	98.99	Microphthalmia with limb anomalies
SMPD1	99.68	Niemann-Pick disease, type A
SMS	83.70	Mental retardation, X-linked, Snyder-Robinson type
SNAP29	98.97	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SNIP1	99.59	Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SNX14	97.83	Spinocerebellar ataxia, autosomal recessive 20
SOBP	96.13	Mental retardation, anterior maxillary protrusion, and strabismus
SON	99.42	ZTTK syndrome
SOS1	98.22	Noonan syndrome 4
SOS2	98.32	Noonan syndrome 9
SOX10	93.26	Waardenburg syndrome, type 2E, with or without neurologic involvement
SOX11	84.37	Mental retardation, autosomal dominant, 27
SOX2	95.94	Optic nerve hypoplasia and abnormalities of the central nervous system
SOX5	99.56	Lamb-Shaffer syndrome
AFG2A	98.88	Epilepsy, hearing loss, and mental retardation syndrome
SPECC1L	99.49	Opitz GBBB syndrome, type II
SPR	77.10	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
SPRED1	99.22	Legius syndrome
SPTAN1	99.48	Epileptic encephalopathy, early infantile, 5
SRCAP	99.65	Floating-Harbor syndrome
SRD5A3	96.86	Congenital disorder of glycosylation, type Iq
ST3GAL3	99.66	Mental retardation, autosomal recessive 12
ST3GAL5	85.32	Salt and pepper developmental regression syndrome
STAG1	98.01	Mental retardation, autosomal dominant 47
STAMBP	99.58	Microcephaly-capillary malformation syndrome
STIL	99.24	Microcephaly 7, primary, autosomal recessive
STRA6	99.67	Microphthalmia, syndromic 9
STT3A	99.55	Congenital disorder of glycosylation, type Iw
STT3B	95.54	Congenital disorder of glycosylation, type Ix
STX1B	99.68	Generalized epilepsy with febrile seizures plus, type 9
STXBP1	99.55	Epileptic encephalopathy, early infantile, 4
SUCLG1	98.06	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
SUOX	99.68	Sulfite oxidase deficiency
SURF1	86.96	Leigh syndrome, due to COX IV deficiency
SYN1	88.25	Epilepsy, X-linked, with variable learning disabilities and behavior disorders
SYNCRIP	99.45	Lelieveld et al., Nat Neurosci 2016 : ID
SYNE1	99.44	Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1	99.68	Mental retardation, autosomal dominant 5
SYP	93.14	Mental retardation, X-linked 96
SYT14	88.69	Spinocerebellar ataxia, autosomal recessive 11
TAF1	97.05	Mental retardation, X-linked, syndromic 33
TAF2	98.57	Mental retardation, autosomal recessive 40
TBC1D23	97.70	Pontocerebellar hypoplasia, type 11
TBC1D24	99.68	Epileptic encephalopathy, early infantile, 16
TBC1D7	98.94	Macrocephaly/megalencephaly syndrome, autosomal recessive
TBCE	98.41	Hypoparathyroidism-retardation-dysmorphism syndrome
TBCK	98.05	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
TBL1XR1	98.00	Mental retardation, autosomal dominant 41
TCF20	99.69	SchÃ¤fgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
TCF4	99.65	Pitt-Hopkins syndrome
TCOF1	99.61	Treacher Collins syndrome 1
TCTN1	99.08	Joubert syndrome 13
TCTN2	99.05	Joubert syndrome 24
TCTN3	99.61	Joubert syndrome 18
TECPR2	99.41	Spastic paraplegia 49, autosomal recessive
TECR	99.69	Mental retardation, autosomal recessive 14
TFAP2A	99.48	Branchiooculofacial syndrome
TGIF1	99.69	Holoprosencephaly 4
TH	98.57	Segawa syndrome, recessive
THOC2	91.08	Mental retardation, X-linked 12/35
THOC6	99.66	Beaulieu-Boycott-Innes syndrome
THRA	99.60	Hypothyroidism, congenital, nongoitrous, 6
TIMM8A	99.66	Mohr-Tranebjaerg syndrome
TINF2	99.67	Dyskeratosis congenita, autosomal dominant 3
TMCO1	95.48	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
TMEM107	99.69	Orofaciodigital syndrome XVI
TMEM138	99.68	Joubert syndrome 16
TMEM165	87.14	Congenital disorder of glycosylation, type IIk
TMEM216	99.69	Joubert syndrome 2
TMEM231	99.62	Joubert syndrome 20
TMEM237	97.88	Joubert syndrome 14
TMEM67	97.57	Joubert syndrome 6
TMEM70	97.01	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TNK2	99.30	Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
TPK1	98.92	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
TPP1	99.65	Spinocerebellar ataxia, autosomal recessive 7
TRAPPC11	98.70	Muscular dystrophy, limb-girdle, type 2S
TRAPPC9	99.57	Mental retardation, autosomal recessive 13
TREX1	99.69	Aicardi-Goutieres syndrome 1, dominant and recessive
TRIM32	99.68	Bardet-Biedl syndrome 11
TRIO	97.17	Mental retardation, autosomal dominant 44
TRIP12	99.18	Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
TRMT10A	99.08	Microcephaly, short stature, and impaired glucose metabolism 1
TRMU	94.99	Liver failure, transient infantile
TRPV4	99.64	Spondylometaphyseal dysplasia, Kozlowski type
TSEN2	99.60	Pontocerebellar hypoplasia type 2B
TSEN54	87.28	Pontocerebellar hypoplasia type 2A
TSFM	85.15	Combined oxidative phosphorylation deficiency 3
TSPAN7	98.69	Mental retardation, X-linked 58
SKIC3	99.17	Trichohepatoenteric syndrome 1
TTC8	98.67	Bardet-Biedl syndrome 8
TTI2	99.57	Mental retardation, autosomal recessive 39
TUBA1A	99.69	Lissencephaly 3
TUBA8	97.24	Cortical dysplasia, complex, with other brain malformations 8
TUBB2A	95.11	Cortical dysplasia, complex, with other brain malformations 5
TUBB2B	99.68	Cortical dysplasia, complex, with other brain malformations 7
TUBB3	94.69	Cortical dysplasia, complex, with other brain malformations 1
TUBB4A	98.34	Leukodystrophy, hypomyelinating, 6
TUBG1	99.69	Cortical dysplasia, complex, with other brain malformations 4
TUBGCP6	99.69	Microcephaly and chorioretinopathy, autosomal recessive, 1
TUSC3	99.45	Mental retardation, autosomal recessive 7
TWIST1	59.51	Saethre-Chotzen syndrome
UBE2A	81.32	Mental retardation, X-linked syndromic, Nascimento-type
UBE3A	98.84	Angelman syndrome
UBE3B	99.43	Kaufman oculocerebrofacial syndrome
UBR1	98.99	Johanson-Blizzard syndrome
UNC80	99.46	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
UPF3B	90.82	Mental retardation, X-linked, syndromic 14
UQCRQ	99.62	Mitochondrial complex III deficiency, nuclear type 4
UROC1	99.69	Urocanase deficiency
USP18	99.69	Pseudo-TORCH syndrome 2
USP9X	93.59	Mental retardation, X-linked 99
VLDLR	97.10	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
VPS13B	98.95	Cohen syndrome
VRK1	99.08	Pontocerebellar hypoplasia type 1A
WAC	97.24	Desanto-Shinawi syndrome
WDPCP	98.77	Bardet-Biedl syndrome 15
WDR26	99.46	Skraban-Deardorff syndrome
WDR45	99.94	Neurodegeneration with brain iron accumulation 5
WDR45B	98.84	Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
WDR62	99.58	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
WDR73	99.54	Galloway-Mowat syndrome
WDR81	99.65	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WWOX	99.63	Epileptic encephalopathy, early infantile, 28
XPA	95.49	Xeroderma pigmentosum, group A
XPC	99.66	Xeroderma pigmentosum, group C
XYLT1	91.40	Desbuquois dysplasia 2
YAP1	95.59	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
YY1	97.61	Gabriele-de Vries syndrome
ZBTB16	99.69	Skeletal defects, genital hypoplasia, and mental retardation
ZBTB18	99.10	Mental retardation, autosomal dominant 22
ZBTB20	99.63	Primrose syndrome
ZBTB24	99.63	Immunodeficiency-centromeric instability-facial anomalies syndrome-2
ZC4H2	97.81	Wieacker-Wolff syndrome
ZDHHC9	98.90	Mental retardation, X-linked syndromic, Raymond type
ZEB2	99.54	Mowat-Wilson syndrome
ZFYVE26	99.53	Spastic paraplegia 15, autosomal recessive
ZIC2	67.20	Holoprosencephaly 5
ZMPSTE24	98.68	Mandibuloacral dysplasia with type B lipodystrophy
ZMYND11	99.50	Mental retardation, autosomal dominant 30
ZNF335	99.63	Microcephaly 10, primary, autosomal recessive
ZNF41	99.90	Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
ZNF711	89.61	Mental retardation, X-linked 97

Myopathy (332 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	1	NM_001605.3
ABHD5	100.00	1	NM_016006.6
ACAD9	100.00	1	NM_014049.5
ACADM	100.00	1	NM_000016.6
ACADVL	100.00	1	NM_000018.4
ACTA1	100.00	1	NM_001100.4
ACVR1	100.00	1	NM_001111067.4
ADSS1	100.00	1	NM_199165.2
AGK	100.00	1	NM_018238.4
AGL	100.00	1	NM_000642.3
AGRN	100.00	1	NM_198576.4
AIFM1	100.00	1	NM_004208.4
ALDOA	100.00	1	NM_184041.4
ALG13	98.00	1	NM_001099922.3
ALG14	100.00	1	NM_144988.4
ALG2	100.00	1	NM_033087.4
ALS2	100.00	1	NM_020919.4
AMPD1	100.00	1	NM_000036.2
ANG	100.00	1	NM_001145.4
ANO5	100.00	1	NM_213599.3
AR	100.00	1	NM_000044.6
ASAH1	100.00	1	NM_177924.5
ASCC1	100.00	1	NM_001198800.3
ATP2A1	100.00	1	NM_004320.6
ATP7A	100.00	1	NM_000052.7
ATXN2	100.00	1	NM_001372574.1
B3GALNT2	100.00	1	NM_152490.5
B4GAT1	100.00	1	NM_006876.3
BAG3	100.00	1	NM_004281.4
BCS1L	100.00	1	NM_001079866.2
BICD2	100.00	1	NM_001003800.2
BIN1	100.00	1	NM_139343.3
BSCL2	100.00	1	NM_001122955.3
BVES	100.00	1	NM_001199563.2
C1QBP	100.00	1	NM_001212.4
C9ORF72	100.00	0	NM_018325.5
CACNA1A	100.00	1	NM_023035.3
CACNA1S	100.00	1	NM_000069.3
CAPN3	100.00	1	NM_000070.3
CASQ1	100.00	1	NM_001231.5
CAV3	100.00	1	NM_033337.3
CAVIN1	100.00	1	NM_012232.6
CCDC78	100.00	1	NM_001031737.3
CFL2	100.00	1	NM_138638.5
CHAT	100.00	1	NM_020549.4
CHCHD10	100.00	1	NM_213720.3
CHKB	100.00	1	NM_005198.5
CHMP2B	100.00	1	NM_014043.4
CHRNA1	100.00	1	NM_000079.4
CHRNB1	100.00	1	NM_000747.3
CHRND	100.00	1	NM_000751.3
CHRNE	100.00	1	NM_000080.4
CHRNG	100.00	1	NM_005199.5
CHST14	100.00	1	NM_130468.4
CLCN1	100.00	1	NM_000083.3
CLN3	100.00	1	NM_001042432.2
CNBP	100.00	1	NM_003418.5
CNTN1	100.00	1	NM_001843.4
COL12A1	100.00	1	NM_004370.6
COL13A1	100.00	1	NM_001130103.2
COL6A1	100.00	1	NM_001848.3
COL6A2	100.00	1	NM_001849.4
COL6A3	100.00	1	NM_004369.4
COLQ	100.00	1	NM_005677.4
COQ9	100.00	1	NM_020312.4
COX10	100.00	1	NM_001303.4
COX15	100.00	1	NM_078470.6
COX20	100.00	1	NM_198076.6
COX6B1	100.00	1	NM_001863.5
COX8A	100.00	1	NM_004074.3
CPT2	100.00	1	NM_000098.3
CRPPA	100.00	1	NM_001101426.4
CRYAB	100.00	1	NM_001289808.2
DAG1	100.00	1	NM_001177634.2
DCTN1	100.00	1	NM_004082.4
DES	100.00	1	NM_001927.4
DGUOK	100.00	1	NM_080916.3
DMD	100.00	1	NM_004006.2
DMPK	100.00	1	NM_004409.5
DNA2	100.00	1	NM_001080449.3
DNAJB2	100.00	1	NM_006736.6
DNAJB6	100.00	1	NM_058246.4
DNM2	100.00	1	NM_001005361.3
DNMT3B	100.00	1	NM_006892.4
DOK7	100.00	1	NM_173660.5
DPAGT1	100.00	1	NM_001382.4
DPM1	99.00	1	NM_001317035.1
DPM2	100.00	1	NM_003863.4
DPM3	100.00	1	NM_153741.2
DYNC1H1	100.00	1	NM_001376.5
DYSF	100.00	1	NM_001130987.2
ECEL1	100.00	1	NM_004826.4
EMD	100.00	1	NM_000117.3
ENO3	100.00	1	NM_053013.4
ERBB3	100.00	1	NM_001982.4
ERBB4	100.00	1	NM_005235.3
ETFA	100.00	1	NM_000126.4
ETFB	100.00	1	NM_001985.3
ETFDH	100.00	1	NM_004453.4
EXOSC3	100.00	1	NM_016042.4
EXOSC8	100.00	1	NM_181503.3
FASTKD2	100.00	1	NM_001136193.2
FBN2	100.00	1	NM_001999.4
FBXL4	100.00	1	NM_001278716.2
FBXO38	100.00	1	NM_205836.3
FDX2	100.00	1	NM_001031734.4
FHL1	100.00	1	NM_001159699.2
FIG4	100.00	1	NM_014845.6
FKRP	100.00	1	NM_024301.5
FKTN	100.00	1	NM_006731.2
FLAD1	100.00	1	NM_025207.5
FLNC	100.00	1	NM_001458.4
FOXRED1	100.00	1	NM_017547.4
FUS	100.00	1	NM_004960.4
FXR1	100.00	1	NM_005087.4
GAA	100.00	1	NM_000152.5
GABRA3	100.00	1	NM_000808.4
GARS1	100.00	1	NM_002047.4
GBE1	100.00	1	NM_000158.4
GFER	100.00	1	NM_005262.3
GFPT1	100.00	1	NM_001244710.2
GLE1	100.00	1	NM_001003722.2
GLI3	100.00	1	NM_000168.6
GMPPB	100.00	1	NM_021971.4
GNE	100.00	1	NM_005476.7
GOLGA2	100.00	1	XM_005251932.1
GYG1	100.00	1	NM_004130.4
GYS1	100.00	1	NM_002103.5
HACD1	100.00	1	NM_014241.4
HADHA	100.00	1	NM_000182.5
HADHB	100.00	1	NM_000183.3
HEXB	100.00	1	NM_000521.4
HNRNPA1	100.00	1	NM_031157.4
HNRNPA2B1	100.00	1	NM_031243.3
HNRNPDL	100.00	1	NM_031372.3
HRAS	100.00	1	NM_005343.4
HSPB3	100.00	1	NM_006308.3
HSPB8	100.00	1	NM_014365.3
HSPG2	100.00	1	NM_005529.7
IBA57	100.00	1	NM_001010867.4
IGHMBP2	100.00	1	NM_002180.3
INPP5K	100.00	1	NM_016532.4
ISCU	100.00	1	NM_213595.3
ITGA7	100.00	1	NM_002206.3
KBTBD13	100.00	1	NM_001101362.2
KCNA1	100.00	1	NM_000217.3
KCNH2	100.00	1	NM_000238.4
KCNJ18	100.00	1	NM_001194958.2
KCNJ2	100.00	1	NM_000891.3
KCNQ1	100.00	1	NM_000218.3
KIF5A	100.00	1	NM_004984.4
KLHL40	100.00	1	NM_152393.4
KLHL41	100.00	1	NM_006063.3
KLHL9	100.00	1	NM_018847.4
KY	100.00	1	NM_178554.6
LAMA2	100.00	1	NM_000426.3
LAMA5	100.00	1	NM_005560.6
LAMB2	100.00	1	NM_002292.4
LAMP2	100.00	1	NM_002294.3
LARGE1	100.00	1	NM_004737.6
LDB3	98.00	1	NM_001171610.2
LDHA	100.00	1	NM_005566.4
LGI4	100.00	1	NM_139284.3
LIMS2	100.00	1	NM_017980.4
LMNA	100.00	1	NM_170707.4
LMOD3	100.00	1	NM_198271.5
LPIN1	100.00	1	NM_001349206.2
LRP4	100.00	1	NM_002334.4
LRPPRC	100.00	1	NM_133259.4
MAP3K20	100.00	1	NM_016653.3
MATR3	100.00	1	NM_018834.6
MCCC1	100.00	1	NM_020166.5
MCCC2	100.00	1	NM_022132.5
MEGF10	100.00	1	NM_001256545.2
MGME1	100.00	1	NM_052865.4
MPV17	100.00	1	NM_002437.5
MSTN	100.00	1	NM_005259.3
MTM1	100.00	1	NM_000252.3
MTMR14	100.00	1	NM_001077525.3
MUSK	100.00	1	NM_005592.4
MYBPC1	100.00	1	NM_002465.4
MYBPC3	100.00	1	NM_000256.3
MYH2	100.00	1	NM_017534.6
MYH3	100.00	1	NM_002470.4
MYH7	100.00	1	NM_000257.4
MYH8	100.00	1	NM_002472.3
MYL1	100.00	1	NM_079420.3
MYMK	100.00	1	NM_001080483.3
MYO18B	100.00	1	NM_032608.7
MYO9A	100.00	1	NM_006901.4
MYOT	100.00	1	NM_006790.3
MYPN	100.00	1	NM_032578.3
NDUFA1	100.00	1	NM_004541.4
NDUFA10	100.00	1	NM_004544.4
NDUFA11	100.00	1	NM_175614.5
NDUFA12	100.00	1	NM_018838.5
NDUFA2	100.00	1	NM_002488.5
NDUFA3	100.00	1	NM_004542.4
NDUFA9	100.00	1	NM_005002.5
NDUFAF1	100.00	1	NM_016013.4
NDUFAF2	100.00	1	NM_174889.5
NDUFAF5	100.00	1	NM_024120.5
NDUFAF6	100.00	1	NM_152416.4
NDUFS1	100.00	1	NM_005006.7
NDUFS2	100.00	1	NM_004550.4
NDUFS3	100.00	1	NM_004551.3
NDUFS4	100.00	1	NM_002495.4
NDUFS7	100.00	1	NM_024407.5
NDUFS8	100.00	1	NM_002496.4
NDUFV1	100.00	1	NM_007103.4
NDUFV2	100.00	1	NM_021074.5
NEB	88.00	1	NM_001271208.2
NEFH	100.00	1	NM_021076.4
NUBPL	100.00	1	NM_025152.3
OPTN	100.00	1	NM_001008212.2
ORAI1	100.00	1	NM_032790.3
PABPN1	100.00	1	NM_004643.3
PET100	100.00	1	NM_001171155.2
PFKM	100.00	1	NM_000289.6
PFN1	100.00	1	NM_005022.4
PGAM2	100.00	1	NM_000290.4
PGK1	100.00	1	NM_000291.4
PGM1	100.00	1	NM_002633.3
PHKA1	100.00	1	NM_002637.4
PHKB	100.00	1	NM_000293.3
PHKG1	100.00	1	NM_001258459.1
PIEZO2	100.00	1	NM_022068.3
PIP5K1C	100.00	1	NM_012398.3
PLEC	100.00	1	NM_201380.4
PLEKHG5	100.00	1	NM_001265592.1
PNPLA2	100.00	1	NM_020376.4
PNPLA8	100.00	1	NM_001256007.3
POGLUT1	100.00	1	NM_152305.3
POLG	100.00	1	NM_001126131.2
POLG2	100.00	1	NM_007215.4
POMGNT1	100.00	1	NM_001243766.1
POMGNT2	100.00	1	NM_032806.6
POMK	100.00	1	NM_032237.5
POMT1	100.00	1	NM_001077365.2
POMT2	100.00	1	NM_013382.5
PREPL	100.00	1	NM_001171613.2
PRKAG2	100.00	1	NM_016203.4
PRPH	100.00	1	NM_006262.4
PUS1	100.00	1	NM_025215.6
PYGM	100.00	1	NM_005609.4
PYROXD1	100.00	1	NM_024854.5
RAPSN	100.00	1	NM_005055.5
RBCK1	100.00	1	NM_031229.4
RBM7	100.00	1	NM_001286045.1
REEP1	100.00	1	NM_001371279.1
RNASEH1	100.00	1	NM_002936.5
RRM2B	100.00	1	NM_015713.5
RXYLT1	100.00	1	NM_014254.3
RYR1	100.00	1	NM_000540.3
SCN4A	100.00	1	NM_000334.4
SCO1	100.00	1	NM_004589.4
SCO2	100.00	1	NM_005138.3
SELENON	90.00	1	NM_020451.3
SETX	100.00	1	NM_015046.7
SGCA	100.00	1	NM_000023.4
SGCB	100.00	1	NM_000232.5
SGCD	100.00	1	XM_017009724.1
SGCG	100.00	1	NM_000231.2
SIGMAR1	100.00	1	NM_005866.4
SIL1	100.00	1	NM_022464.5
SLC18A3	100.00	1	NM_003055.3
SLC22A5	100.00	1	NM_003060.4
SLC25A20	100.00	1	NM_000387.6
SLC25A4	100.00	1	NM_001151.4
SLC52A2	100.00	1	NM_001363118.2
SLC52A3	100.00	1	NM_033409.4
SLC5A7	100.00	1	NM_021815.5
SMCHD1	100.00	1	NM_015295.3
SMN1	6.00	0	NM_000344.3+(exon 1 Ã 7 non couvert)
SNAP25	100.00	1	NM_130811.4
SOD1	100.00	1	NM_000454.5
SPEG	100.00	1	NM_005876.5
SPG11	100.00	1	NM_025137.4
SPG7	100.00	1	NM_003119.4
SPTBN4	100.00	1	NM_020971.3
SQSTM1	100.00	1	NM_003900.5
STAC3	100.00	1	NM_145064.3
STIM1	100.00	1	NM_001277961.1
SUCLA2	100.00	1	NM_003850.2
SUCLG1	100.00	1	NM_003849.4
SURF1	100.00	1	NM_003172.4
SYNE1	100.00	1	NM_182961.4
SYNE2	100.00	1	NM_182914.2
SYT2	100.00	1	NM_177402.5
TACO1	100.00	1	NM_016360.4
TANGO2	100.00	1	NM_152906.7
TARDBP	100.00	1	NM_007375.4
TARS2	100.00	1	NM_025150.5
TAFAZZIN	100.00	1	NM_000116.5
TCAP	100.00	1	NM_003673.4
TIA1	100.00	1	NM_022173.4
TK2	100.00	1	NM_004614.5
TMEM43	100.00	1	NM_024334.3
TNNI2	100.00	1	NM_003282.4
TNNT1	100.00	1	NM_003283.6
TNNT3	100.00	1	NM_006757.4
TNPO3	100.00	1	NM_012470.3
TOP3A	100.00	1	NM_004618.5
TOR1AIP1	100.00	1	NM_001267578.1
TPM2	100.00	1	NM_003289.4
TPM3	100.00	1	NM_152263.4
TRAPPC11	100.00	1	NM_021942.6
TRIM32	100.00	1	NM_012210.3
TRIM54	100.00	1	NM_187841.3
TRIM63	100.00	1	NM_032588.3
TRIP4	100.00	1	NM_016213.5
TRMT5	100.00	1	NM_020810.3
TRPV4	100.00	1	NM_021625.5
TSFM	100.00	1	NM_005726.6
TTN	100.00	1	NM_001267550.2
TUBA4A	100.00	1	NM_006000.3
TWNK	100.00	1	NM_021830.5
TYMP	100.00	1	NM_001257989.1
UBA1	100.00	1	NM_003334.4
UBQLN2	100.00	1	NM_013444.3
VAMP1	100.00	1	NM_014231.5
VAPB	100.00	1	NM_004738.5
VARS1	100.00	1	NM_001167734.1
VCP	100.00	1	NM_007126.5
VMA21	100.00	1	NM_001363810.1
VPS33B	100.00	1	NM_018668.5
VRK1	100.00	1	NM_003384.3
WARS1	100.00	1	NM_004184.4
XK	100.00	1	NM_021083.4
YARS2	100.00	1	NM_001040436.3
ZC4H2	100.00	1	NM_018684.4

Neurodevelopmental disorders (1300 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	100.00	Neurodevelopmental disorders
ABCC6	99.95	Neurodevelopmental disorders
ABCC9	99.93	Neurodevelopmental disorders
ABCD1	97.56	Neurodevelopmental disorders
ABCD4	100.00	Neurodevelopmental disorders
ABCG5	99.99	Neurodevelopmental disorders
ABHD5	99.85	Neurodevelopmental disorders
ABI2	100.00	Neurodevelopmental disorders
ACAD9	100.00	Neurodevelopmental disorders
ACAT1	93.45	Neurodevelopmental disorders
ACO2	100.00	Neurodevelopmental disorders
ACOX1	100.00	Neurodevelopmental disorders
ACSF3	99.86	Neurodevelopmental disorders
ACSL4	99.98	Neurodevelopmental disorders
ACTB	100.00	Neurodevelopmental disorders
ACTG1	100.00	Neurodevelopmental disorders
ACVR1	100.00	Neurodevelopmental disorders
ACY1	100.00	Neurodevelopmental disorders
ADAR	100.00	Neurodevelopmental disorders
ADAT3	99.45	Neurodevelopmental disorders
COQ8A	99.92	Neurodevelopmental disorders
ADCY5	99.17	Neurodevelopmental disorders
ADK	100.00	Neurodevelopmental disorders
ADNP	100.00	Neurodevelopmental disorders
ADORA1	100.00	Neurodevelopmental disorders
ADRA2B	100.00	Neurodevelopmental disorders
ADSL	100.00	Neurodevelopmental disorders
AFF2	99.91	Neurodevelopmental disorders
AFF3	100.00	Neurodevelopmental disorders
AFP	100.00	Neurodevelopmental disorders
AGA	100.00	Neurodevelopmental disorders
AGAP2	98.60	Neurodevelopmental disorders
AGBL4	100.00	Neurodevelopmental disorders
AGL	100.00	Neurodevelopmental disorders
AGPAT2	93.10	Neurodevelopmental disorders
AGXT	100.00	Neurodevelopmental disorders
AGTR2	100.00	Neurodevelopmental disorders
AHCY	100.00	Neurodevelopmental disorders
AHDC1	99.99	Neurodevelopmental disorders
AHI1	100.00	Neurodevelopmental disorders
AIFM1	99.98	Neurodevelopmental disorders
AIMP1	99.97	Neurodevelopmental disorders
AIMP2	96.68	Neurodevelopmental disorders
AK1	100.00	Neurodevelopmental disorders
AKT1	100.00	Neurodevelopmental disorders
AKT3	100.00	Neurodevelopmental disorders
ALDH18A1	100.00	Neurodevelopmental disorders
ALDH3A2	99.94	Neurodevelopmental disorders
ALDH4A1	96.50	Neurodevelopmental disorders
ALDH5A1	84.13	Neurodevelopmental disorders
ALG1	78.28	Neurodevelopmental disorders
ALG11	100.00	Neurodevelopmental disorders
ALG12	100.00	Neurodevelopmental disorders
ALG13	99.53	Neurodevelopmental disorders
ALG2	99.83	Neurodevelopmental disorders
ALG3	93.20	Neurodevelopmental disorders
ALG6	100.00	Neurodevelopmental disorders
ALG9	98.18	Neurodevelopmental disorders
ALX1	100.00	Neurodevelopmental disorders
ALX4	98.04	Neurodevelopmental disorders
AMER1	99.97	Neurodevelopmental disorders
AMPD2	99.90	Neurodevelopmental disorders
AMT	100.00	Neurodevelopmental disorders
ANK2	99.99	Neurodevelopmental disorders
ANK3	100.00	Neurodevelopmental disorders
ANKH	100.00	Neurodevelopmental disorders
ANKRD11	100.00	Neurodevelopmental disorders
ANO10	100.00	Neurodevelopmental disorders
ANO3	100.00	Neurodevelopmental disorders
ANO5	100.00	Neurodevelopmental disorders
ANTXR1	99.97	Neurodevelopmental disorders
AP1S1	100.00	Neurodevelopmental disorders
AP1S2	100.00	Neurodevelopmental disorders
AP3B1	100.00	Neurodevelopmental disorders
AP4B1	100.00	Neurodevelopmental disorders
AP4E1	99.99	Neurodevelopmental disorders
AP4M1	100.00	Neurodevelopmental disorders
AP4S1	100.00	Neurodevelopmental disorders
APAF1	100.00	Neurodevelopmental disorders
APC	100.00	Neurodevelopmental disorders
APOB	98.90	Neurodevelopmental disorders
APTX	99.96	Neurodevelopmental disorders
AQP7	99.59	Neurodevelopmental disorders
AR	100.00	Neurodevelopmental disorders
ARFGEF2	100.00	Neurodevelopmental disorders
ARG1	100.00	Neurodevelopmental disorders
ARHGAP11A	100.00	Neurodevelopmental disorders
ARHGAP24	99.97	Neurodevelopmental disorders
ARHGEF2	100.00	Neurodevelopmental disorders
ARHGEF4	99.85	Neurodevelopmental disorders
ARHGEF6	100.00	Neurodevelopmental disorders
ARHGEF9	99.92	Neurodevelopmental disorders
ARID1A	97.21	Neurodevelopmental disorders
ARID1B	98.17	Neurodevelopmental disorders
ARL13B	99.98	Neurodevelopmental disorders
ARL3	99.80	Neurodevelopmental disorders
ARL6	100.00	Neurodevelopmental disorders
ARMC9	100.00	Neurodevelopmental disorders
ARSL	99.92	Neurodevelopmental disorders
ARX	88.86	Neurodevelopmental disorders
ASH1L	100.00	Neurodevelopmental disorders
ASL	99.96	Neurodevelopmental disorders
ASNS	97.93	Neurodevelopmental disorders
ASPA	100.00	Neurodevelopmental disorders
ASPM	100.00	Neurodevelopmental disorders
ASS1	98.12	Neurodevelopmental disorders
ASTN2	98.47	Neurodevelopmental disorders
ASXL1	99.93	Neurodevelopmental disorders
ASXL3	100.00	Neurodevelopmental disorders
ATG5	100.00	Neurodevelopmental disorders
ATIC	97.39	Neurodevelopmental disorders
ATL1	99.89	Neurodevelopmental disorders
ATM	100.00	Neurodevelopmental disorders
ATP13A2	98.30	Neurodevelopmental disorders
ATP1A2	99.94	Neurodevelopmental disorders
ATP2A2	100.00	Neurodevelopmental disorders
ATP6AP2	98.57	Neurodevelopmental disorders
ATP6V0A2	99.97	Neurodevelopmental disorders
ATP7A	100.00	Neurodevelopmental disorders
ATP8A2	99.91	Neurodevelopmental disorders
ATRX	99.89	Neurodevelopmental disorders
ATXN1	100.00	Neurodevelopmental disorders
ATXN7	98.67	Neurodevelopmental disorders
AUH	99.24	Neurodevelopmental disorders
AUTS2	99.82	Neurodevelopmental disorders
NLRP3	100.00	Neurodevelopmental disorders
AVPR2	99.37	Neurodevelopmental disorders
AXIN1	100.00	Neurodevelopmental disorders
AXL	100.00	Neurodevelopmental disorders
B3GLCT	94.30	Neurodevelopmental disorders
B4GAT1	99.99	Neurodevelopmental disorders
B4GALT1	100.00	Neurodevelopmental disorders
B4GALT7	90.50	Neurodevelopmental disorders
BBS1	100.00	Neurodevelopmental disorders
BBS10	100.00	Neurodevelopmental disorders
BBS12	100.00	Neurodevelopmental disorders
BBS2	100.00	Neurodevelopmental disorders
BBS4	99.97	Neurodevelopmental disorders
BBS5	100.00	Neurodevelopmental disorders
BBS7	99.99	Neurodevelopmental disorders
BBS9	99.93	Neurodevelopmental disorders
BCKDHA	99.90	Neurodevelopmental disorders
BCKDHB	100.00	Neurodevelopmental disorders
BCL11A	100.00	Neurodevelopmental disorders
BCOR	99.79	Neurodevelopmental disorders
BCS1L	100.00	Neurodevelopmental disorders
BIN1	99.94	Neurodevelopmental disorders
BIRC6	99.99	Neurodevelopmental disorders
BLM	100.00	Neurodevelopmental disorders
BRAF	96.83	Neurodevelopmental disorders
BRCA2	100.00	Neurodevelopmental disorders
BRD4	99.43	Neurodevelopmental disorders
BRF1	93.75	Neurodevelopmental disorders
BRIP1	100.00	Neurodevelopmental disorders
BRWD3	99.91	Neurodevelopmental disorders
BSCL2	100.00	Neurodevelopmental disorders
BTD	100.00	Neurodevelopmental disorders
BUB1B	100.00	Neurodevelopmental disorders
TSPOAP1	99.52	Neurodevelopmental disorders
TWNK	100.00	Neurodevelopmental disorders
C12ORF57	100.00	Neurodevelopmental disorders
MTRFR	100.00	Neurodevelopmental disorders
DIPK2A	98.86	Neurodevelopmental disorders
CPLANE1	100.00	Neurodevelopmental disorders
CARNMT1	97.76	Neurodevelopmental disorders
CA2	99.97	Neurodevelopmental disorders
CA8	100.00	Neurodevelopmental disorders
CACNA1A	99.53	Neurodevelopmental disorders
CACNA1B	99.04	Neurodevelopmental disorders
CACNA1C	99.97	Neurodevelopmental disorders
CACNA1D	99.81	Neurodevelopmental disorders
CACNA1F	99.02	Neurodevelopmental disorders
CACNA1G	99.97	Neurodevelopmental disorders
CACNA1H	98.10	Neurodevelopmental disorders
CACNA2D3	99.31	Neurodevelopmental disorders
CACNB2	100.00	Neurodevelopmental disorders
CACNG2	100.00	Neurodevelopmental disorders
CACNG7	99.94	Neurodevelopmental disorders
CALM1	100.00	Neurodevelopmental disorders
CAMTA1	99.98	Neurodevelopmental disorders
CANT1	100.00	Neurodevelopmental disorders
CAPN12	100.00	Neurodevelopmental disorders
CASK	99.99	Neurodevelopmental disorders
CBL	100.00	Neurodevelopmental disorders
CBS	99.85	Neurodevelopmental disorders
CC2D1A	99.45	Neurodevelopmental disorders
CC2D2A	100.00	Neurodevelopmental disorders
CCAR2	99.98	Neurodevelopmental disorders
CCBE1	99.32	Neurodevelopmental disorders
CFAP53	100.00	Neurodevelopmental disorders
CCDC174	100.00	Neurodevelopmental disorders
CCDC22	97.87	Neurodevelopmental disorders
CCDC39	100.00	Neurodevelopmental disorders
CCDC78	100.00	Neurodevelopmental disorders
CCDC88C	99.64	Neurodevelopmental disorders
CCNT1	100.00	Neurodevelopmental disorders
CCSER1	100.00	Neurodevelopmental disorders
CD163L1	99.94	Neurodevelopmental disorders
CDC42BPB	99.67	Neurodevelopmental disorders
CDH11	100.00	Neurodevelopmental disorders
CDH15	94.37	Neurodevelopmental disorders
CDK5RAP2	100.00	Neurodevelopmental disorders
CDKL5	99.77	Neurodevelopmental disorders
CDKN1C	85.53	Neurodevelopmental disorders
CDON	100.00	Neurodevelopmental disorders
CELSR1	95.69	Neurodevelopmental disorders
CENPJ	100.00	Neurodevelopmental disorders
CEP135	99.96	Neurodevelopmental disorders
CEP152	100.00	Neurodevelopmental disorders
CEP290	100.00	Neurodevelopmental disorders
CEP41	100.00	Neurodevelopmental disorders
CEP57	100.00	Neurodevelopmental disorders
CHAMP1	100.00	Neurodevelopmental disorders
CHAT	99.97	Neurodevelopmental disorders
CHD1	100.00	Neurodevelopmental disorders
CHD1L	99.95	Neurodevelopmental disorders
CHD2	100.00	Neurodevelopmental disorders
CHD3	97.53	Neurodevelopmental disorders
CHD4	99.13	Neurodevelopmental disorders
CHD7	100.00	Neurodevelopmental disorders
CHD8	100.00	Neurodevelopmental disorders
CHKB	99.75	Neurodevelopmental disorders
CHRNA2	99.99	Neurodevelopmental disorders
CHRNA4	94.66	Neurodevelopmental disorders
CHRND	100.00	Neurodevelopmental disorders
CHST11	100.00	Neurodevelopmental disorders
CIC	99.22	Neurodevelopmental disorders
CLCN4	100.00	Neurodevelopmental disorders
CLCN7	95.85	Neurodevelopmental disorders
CLCNKB	99.96	Neurodevelopmental disorders
CLIC2	99.96	Neurodevelopmental disorders
CLIP1	100.00	Neurodevelopmental disorders
CLN3	100.00	Neurodevelopmental disorders
CLN5	98.80	Neurodevelopmental disorders
CLN6	100.00	Neurodevelopmental disorders
CLN8	100.00	Neurodevelopmental disorders
CLPB	99.94	Neurodevelopmental disorders
CMIP	99.43	Neurodevelopmental disorders
CNKSR2	99.82	Neurodevelopmental disorders
CNOT1	99.97	Neurodevelopmental disorders
CNOT3	100.00	Neurodevelopmental disorders
CNOT4	100.00	Neurodevelopmental disorders
CNOT6	100.00	Neurodevelopmental disorders
CNTN3	100.00	Neurodevelopmental disorders
CNTN4	100.00	Neurodevelopmental disorders
CNTNAP2	99.10	Neurodevelopmental disorders
COA3	100.00	Neurodevelopmental disorders
COG1	99.01	Neurodevelopmental disorders
COG5	99.95	Neurodevelopmental disorders
COG6	100.00	Neurodevelopmental disorders
COG7	100.00	Neurodevelopmental disorders
COG8	99.96	Neurodevelopmental disorders
COL11A1	100.00	Neurodevelopmental disorders
COL1A2	99.33	Neurodevelopmental disorders
COL25A1	99.96	Neurodevelopmental disorders
COL27A1	99.65	Neurodevelopmental disorders
COL4A1	98.48	Neurodevelopmental disorders
COL4A2	100.00	Neurodevelopmental disorders
CERT1	99.99	Neurodevelopmental disorders
COLEC11	100.00	Neurodevelopmental disorders
COPB2	99.91	Neurodevelopmental disorders
COQ2	99.66	Neurodevelopmental disorders
COX10	100.00	Neurodevelopmental disorders
COX15	99.99	Neurodevelopmental disorders
CP	100.00	Neurodevelopmental disorders
CYP2A6	100.00	Neurodevelopmental disorders
CYP21A2	100.00	Neurodevelopmental disorders
CRADD	100.00	Neurodevelopmental disorders
CRBN	100.00	Neurodevelopmental disorders
CREB1	99.99	Neurodevelopmental disorders
CREBBP	99.97	Neurodevelopmental disorders
CSMD1	100.00	Neurodevelopmental disorders
CSNK2A1	100.00	Neurodevelopmental disorders
CSTF2T	100.00	Neurodevelopmental disorders
CTC1	99.70	Neurodevelopmental disorders
CTCF	100.00	Neurodevelopmental disorders
CTDP1	92.47	Neurodevelopmental disorders
CTNNB1	100.00	Neurodevelopmental disorders
CTSA	99.94	Neurodevelopmental disorders
CTSD	93.41	Neurodevelopmental disorders
CTTNBP2	99.83	Neurodevelopmental disorders
CUBN	100.00	Neurodevelopmental disorders
CUL3	100.00	Neurodevelopmental disorders
CUL4B	99.51	Neurodevelopmental disorders
CUL5	99.99	Neurodevelopmental disorders
CUX2	99.78	Neurodevelopmental disorders
CYB5R3	100.00	Neurodevelopmental disorders
CYFIP1	99.90	Neurodevelopmental disorders
CYP27A1	99.38	Neurodevelopmental disorders
D2HGDH	99.95	Neurodevelopmental disorders
DAG1	100.00	Neurodevelopmental disorders
DAGLA	99.99	Neurodevelopmental disorders
DARS2	100.00	Neurodevelopmental disorders
DBT	100.00	Neurodevelopmental disorders
DCAF17	96.96	Neurodevelopmental disorders
DCPS	100.00	Neurodevelopmental disorders
DCX	99.94	Neurodevelopmental disorders
DDHD2	100.00	Neurodevelopmental disorders
DDX11	99.92	Neurodevelopmental disorders
DDX3X	100.00	Neurodevelopmental disorders
DEAF1	97.27	Neurodevelopmental disorders
DHCR24	98.73	Neurodevelopmental disorders
DHCR7	99.97	Neurodevelopmental disorders
DHFR	91.86	Neurodevelopmental disorders
DHTKD1	99.54	Neurodevelopmental disorders
DHX9	100.00	Neurodevelopmental disorders
DIAPH1	99.95	Neurodevelopmental disorders
DIAPH3	100.00	Neurodevelopmental disorders
DIP2A	99.87	Neurodevelopmental disorders
DIP2B	99.66	Neurodevelopmental disorders
DISC1	0.00	Neurodevelopmental disorders
DKC1	99.88	Neurodevelopmental disorders
DLD	100.00	Neurodevelopmental disorders
DLG2	100.00	Neurodevelopmental disorders
DLG3	99.58	Neurodevelopmental disorders
DLG4	100.00	Neurodevelopmental disorders
DLGAP1	99.92	Neurodevelopmental disorders
DMD	99.96	Neurodevelopmental disorders
DMPK	99.91	Neurodevelopmental disorders
DNAH5	100.00	Neurodevelopmental disorders
DNAJC19	99.65	Neurodevelopmental disorders
DNM1	93.52	Neurodevelopmental disorders
DNMT1	99.54	Neurodevelopmental disorders
DNMT3A	99.73	Neurodevelopmental disorders
DNMT3B	100.00	Neurodevelopmental disorders
DOCK6	99.15	Neurodevelopmental disorders
DOCK8	99.94	Neurodevelopmental disorders
DPAGT1	100.00	Neurodevelopmental disorders
DPF2	100.00	Neurodevelopmental disorders
DPH1	99.97	Neurodevelopmental disorders
DPM1	100.00	Neurodevelopmental disorders
DPP6	99.83	Neurodevelopmental disorders
DPYD	100.00	Neurodevelopmental disorders
DSCAM	99.93	Neurodevelopmental disorders
DST	100.00	Neurodevelopmental disorders
DUSP15	83.59	Neurodevelopmental disorders
DYM	100.00	Neurodevelopmental disorders
DYNC1H1	99.92	Neurodevelopmental disorders
DYRK1A	100.00	Neurodevelopmental disorders
GLB1	100.00	Neurodevelopmental disorders
ECM2	100.00	Neurodevelopmental disorders
EDC3	100.00	Neurodevelopmental disorders
EFCAB5	99.99	Neurodevelopmental disorders
EFNB1	100.00	Neurodevelopmental disorders
EFNB2	100.00	Neurodevelopmental disorders
EFL1	100.00	Neurodevelopmental disorders
EFTUD2	99.99	Neurodevelopmental disorders
EHMT1	97.78	Neurodevelopmental disorders
EI24	99.67	Neurodevelopmental disorders
EIF2AK3	96.33	Neurodevelopmental disorders
EIF2S3	100.00	Neurodevelopmental disorders
EIF3G	100.00	Neurodevelopmental disorders
EIF4A1	99.36	Neurodevelopmental disorders
EIF4G1	100.00	Neurodevelopmental disorders
ELAVL2	100.00	Neurodevelopmental disorders
ELK1	99.85	Neurodevelopmental disorders
ELOVL4	100.00	Neurodevelopmental disorders
ELP2	100.00	Neurodevelopmental disorders
EMC1	100.00	Neurodevelopmental disorders
EML1	98.26	Neurodevelopmental disorders
EMX2	99.97	Neurodevelopmental disorders
EN2	99.85	Neurodevelopmental disorders
EP300	100.00	Neurodevelopmental disorders
EP400	100.00	Neurodevelopmental disorders
EPB41L1	100.00	Neurodevelopmental disorders
EPHA5	99.93	Neurodevelopmental disorders
EPHB2	96.50	Neurodevelopmental disorders
ERBIN	100.00	Neurodevelopmental disorders
ERBB4	100.00	Neurodevelopmental disorders
ERCC2	99.22	Neurodevelopmental disorders
ERCC3	100.00	Neurodevelopmental disorders
ERCC5	100.00	Neurodevelopmental disorders
ERCC6	100.00	Neurodevelopmental disorders
ERCC8	100.00	Neurodevelopmental disorders
ERLIN2	100.00	Neurodevelopmental disorders
ESCO2	100.00	Neurodevelopmental disorders
ETFB	100.00	Neurodevelopmental disorders
ETHE1	97.84	Neurodevelopmental disorders
EXOC3L2	99.73	Neurodevelopmental disorders
EXOSC3	100.00	Neurodevelopmental disorders
EXT1	100.00	Neurodevelopmental disorders
EZH2	100.00	Neurodevelopmental disorders
EZR	100.00	Neurodevelopmental disorders
F5	99.99	Neurodevelopmental disorders
FAAH2	100.00	Neurodevelopmental disorders
OTULIN	87.40	Neurodevelopmental disorders
HYCC1	100.00	Neurodevelopmental disorders
FAM177A1	100.00	Neurodevelopmental disorders
FANCB	100.00	Neurodevelopmental disorders
FANCD2	100.00	Neurodevelopmental disorders
FANCG	99.98	Neurodevelopmental disorders
FBLN5	100.00	Neurodevelopmental disorders
FBN1	100.00	Neurodevelopmental disorders
FBN2	100.00	Neurodevelopmental disorders
FBXO31	94.11	Neurodevelopmental disorders
FBXO33	92.42	Neurodevelopmental disorders
FEZF2	99.95	Neurodevelopmental disorders
FGD1	99.24	Neurodevelopmental disorders
FGF14	100.00	Neurodevelopmental disorders
FGFR1	99.94	Neurodevelopmental disorders
FGFR2	100.00	Neurodevelopmental disorders
FGFR3	99.24	Neurodevelopmental disorders
FGG	100.00	Neurodevelopmental disorders
FH	100.00	Neurodevelopmental disorders
FHIT	100.00	Neurodevelopmental disorders
FIGN	100.00	Neurodevelopmental disorders
FKRP	100.00	Neurodevelopmental disorders
FKTN	100.00	Neurodevelopmental disorders
FLNA	99.75	Neurodevelopmental disorders
FLVCR1	100.00	Neurodevelopmental disorders
FMN2	100.00	Neurodevelopmental disorders
FMR1	99.99	Neurodevelopmental disorders
FOLR1	100.00	Neurodevelopmental disorders
FOXG1	92.10	Neurodevelopmental disorders
FOXP1	100.00	Neurodevelopmental disorders
FOXP2	99.61	Neurodevelopmental disorders
FOXP3	99.44	Neurodevelopmental disorders
FRAS1	100.00	Neurodevelopmental disorders
FRMPD4	99.90	Neurodevelopmental disorders
FRRS1L	82.37	Neurodevelopmental disorders
FTCD	96.32	Neurodevelopmental disorders
FTO	100.00	Neurodevelopmental disorders
FTSJ1	100.00	Neurodevelopmental disorders
FUCA1	99.91	Neurodevelopmental disorders
FXR1	99.74	Neurodevelopmental disorders
G6PC3	100.00	Neurodevelopmental disorders
GABRA1	100.00	Neurodevelopmental disorders
GABRA5	100.00	Neurodevelopmental disorders
GABRB3	100.00	Neurodevelopmental disorders
GABRG2	91.70	Neurodevelopmental disorders
GABRG3	99.57	Neurodevelopmental disorders
GAD1	100.00	Neurodevelopmental disorders
GALE	100.00	Neurodevelopmental disorders
GALK1	99.40	Neurodevelopmental disorders
GALNT18	100.00	Neurodevelopmental disorders
GALT	100.00	Neurodevelopmental disorders
GAMT	97.00	Neurodevelopmental disorders
GAN	98.52	Neurodevelopmental disorders
GARNL3	100.00	Neurodevelopmental disorders
GARS1	97.89	Neurodevelopmental disorders
GAS2	100.00	Neurodevelopmental disorders
GATAD2B	100.00	Neurodevelopmental disorders
GATM	98.74	Neurodevelopmental disorders
GBA1	100.00	Neurodevelopmental disorders
GBE1	100.00	Neurodevelopmental disorders
GCH1	99.71	Neurodevelopmental disorders
GCK	99.13	Neurodevelopmental disorders
GCOM1	95.06	Neurodevelopmental disorders
GCSH	73.97	Neurodevelopmental disorders
GDI1	99.45	Neurodevelopmental disorders
GFAP	100.00	Neurodevelopmental disorders
GFM1	100.00	Neurodevelopmental disorders
GHR	99.41	Neurodevelopmental disorders
GIGYF1	99.99	Neurodevelopmental disorders
GIMAP8	100.00	Neurodevelopmental disorders
GJB1	100.00	Neurodevelopmental disorders
GJB6	100.00	Neurodevelopmental disorders
GJC2	96.72	Neurodevelopmental disorders
GK	98.88	Neurodevelopmental disorders
GLDC	97.39	Neurodevelopmental disorders
GLI2	96.28	Neurodevelopmental disorders
GLI3	100.00	Neurodevelopmental disorders
GLO1	100.00	Neurodevelopmental disorders
GLRA1	100.00	Neurodevelopmental disorders
GLUL	100.00	Neurodevelopmental disorders
GLYCTK	98.86	Neurodevelopmental disorders
GM2A	100.00	Neurodevelopmental disorders
GMPPA	100.00	Neurodevelopmental disorders
GMPPB	100.00	Neurodevelopmental disorders
GNAO1	100.00	Neurodevelopmental disorders
GNAS	100.00	Neurodevelopmental disorders
GNB1	100.00	Neurodevelopmental disorders
GNB5	98.67	Neurodevelopmental disorders
GNPAT	100.00	Neurodevelopmental disorders
GNPTAB	99.91	Neurodevelopmental disorders
GNPTG	95.92	Neurodevelopmental disorders
GNRHR	100.00	Neurodevelopmental disorders
GNS	100.00	Neurodevelopmental disorders
GORASP2	99.76	Neurodevelopmental disorders
GP1BB	44.39	Neurodevelopmental disorders
GPC3	99.72	Neurodevelopmental disorders
GPHN	100.00	Neurodevelopmental disorders
GPKOW	99.98	Neurodevelopmental disorders
GPR37	100.00	Neurodevelopmental disorders
ADGRG1	99.99	Neurodevelopmental disorders
GPT2	97.87	Neurodevelopmental disorders
GRB2	100.00	Neurodevelopmental disorders
GRIA3	99.99	Neurodevelopmental disorders
GRIA4	100.00	Neurodevelopmental disorders
GRID2	100.00	Neurodevelopmental disorders
GRIK2	100.00	Neurodevelopmental disorders
GRIN1	99.80	Neurodevelopmental disorders
GRIN2A	100.00	Neurodevelopmental disorders
GRIN2B	100.00	Neurodevelopmental disorders
GRIN3B	87.60	Neurodevelopmental disorders
GRM1	99.99	Neurodevelopmental disorders
GSE1	99.15	Neurodevelopmental disorders
GSPT2	99.99	Neurodevelopmental disorders
GSS	100.00	Neurodevelopmental disorders
GTF2H5	100.00	Neurodevelopmental disorders
GTF2IRD1	99.04	Neurodevelopmental disorders
GTF3C1	100.00	Neurodevelopmental disorders
GTPBP2	99.78	Neurodevelopmental disorders
GUSB	97.13	Neurodevelopmental disorders
GYS2	100.00	Neurodevelopmental disorders
HAL	99.95	Neurodevelopmental disorders
HAX1	100.00	Neurodevelopmental disorders
HCCS	100.00	Neurodevelopmental disorders
HCFC1	99.85	Neurodevelopmental disorders
HCN1	99.93	Neurodevelopmental disorders
HDAC4	99.86	Neurodevelopmental disorders
HDAC6	99.91	Neurodevelopmental disorders
HDAC8	99.75	Neurodevelopmental disorders
HDAC9	100.00	Neurodevelopmental disorders
HECTD1	100.00	Neurodevelopmental disorders
HECW2	100.00	Neurodevelopmental disorders
HEPACAM	99.85	Neurodevelopmental disorders
HERC1	100.00	Neurodevelopmental disorders
HERC2	97.66	Neurodevelopmental disorders
HESX1	100.00	Neurodevelopmental disorders
HEXA	100.00	Neurodevelopmental disorders
HEXB	99.19	Neurodevelopmental disorders
H1-4	99.57	Neurodevelopmental disorders
H4C2	100.00	Neurodevelopmental disorders
HIVEP2	99.91	Neurodevelopmental disorders
HIVEP3	100.00	Neurodevelopmental disorders
HLCS	100.00	Neurodevelopmental disorders
HMGA2	93.67	Neurodevelopmental disorders
HNMT	100.00	Neurodevelopmental disorders
HNRNPH1	100.00	Neurodevelopmental disorders
HNRNPU	99.82	Neurodevelopmental disorders
HNRNPUL1	99.31	Neurodevelopmental disorders
HOXA1	100.00	Neurodevelopmental disorders
HOXB1	100.00	Neurodevelopmental disorders
HOXD10	100.00	Neurodevelopmental disorders
HPD	100.00	Neurodevelopmental disorders
HPRT1	92.71	Neurodevelopmental disorders
HRAS	100.00	Neurodevelopmental disorders
HSD17B10	100.00	Neurodevelopmental disorders
HSPA4	100.00	Neurodevelopmental disorders
HSPD1	95.18	Neurodevelopmental disorders
HTR2A	100.00	Neurodevelopmental disorders
HUWE1	99.95	Neurodevelopmental disorders
IARS1	100.00	Neurodevelopmental disorders
IDH2	93.11	Neurodevelopmental disorders
IDS	99.88	Neurodevelopmental disorders
IDUA	91.86	Neurodevelopmental disorders
IER3IP1	99.44	Neurodevelopmental disorders
IFT172	100.00	Neurodevelopmental disorders
IGBP1	99.53	Neurodevelopmental disorders
IGF1	100.00	Neurodevelopmental disorders
IGF1R	100.00	Neurodevelopmental disorders
IKBKG	96.89	Neurodevelopmental disorders
IL1RAPL1	99.95	Neurodevelopmental disorders
ILF2	100.00	Neurodevelopmental disorders
INPP5E	99.14	Neurodevelopmental disorders
INSR	96.68	Neurodevelopmental disorders
INTU	100.00	Neurodevelopmental disorders
IQGAP3	100.00	Neurodevelopmental disorders
IQSEC2	98.53	Neurodevelopmental disorders
IRS1	100.00	Neurodevelopmental disorders
IRX5	98.24	Neurodevelopmental disorders
CRPPA	95.50	Neurodevelopmental disorders
ITGA7	100.00	Neurodevelopmental disorders
ITGB3	99.17	Neurodevelopmental disorders
ITPR1	99.99	Neurodevelopmental disorders
ITSN1	99.99	Neurodevelopmental disorders
JADE2	100.00	Neurodevelopmental disorders
JAG1	99.87	Neurodevelopmental disorders
JAM3	99.88	Neurodevelopmental disorders
JMJD1C	100.00	Neurodevelopmental disorders
JUP	100.00	Neurodevelopmental disorders
KANK1	100.00	Neurodevelopmental disorders
KANSL1	100.00	Neurodevelopmental disorders
KAT6A	100.00	Neurodevelopmental disorders
KAT6B	100.00	Neurodevelopmental disorders
KATNAL2	100.00	Neurodevelopmental disorders
KATNB1	99.90	Neurodevelopmental disorders
KCNA1	100.00	Neurodevelopmental disorders
KCNH1	100.00	Neurodevelopmental disorders
KCNJ10	100.00	Neurodevelopmental disorders
KCNJ11	100.00	Neurodevelopmental disorders
KCNJ6	100.00	Neurodevelopmental disorders
KCNK9	100.00	Neurodevelopmental disorders
KCNMA1	99.93	Neurodevelopmental disorders
KCNQ2	99.92	Neurodevelopmental disorders
KCNQ3	98.20	Neurodevelopmental disorders
KCNQ4	94.57	Neurodevelopmental disorders
KCNT1	98.96	Neurodevelopmental disorders
KCTD7	100.00	Neurodevelopmental disorders
KDM1A	99.82	Neurodevelopmental disorders
KDM5A	100.00	Neurodevelopmental disorders
KDM5B	100.00	Neurodevelopmental disorders
KDM5C	99.97	Neurodevelopmental disorders
KDM6A	99.72	Neurodevelopmental disorders
KDM6B	99.91	Neurodevelopmental disorders
RUBCN	96.60	Neurodevelopmental disorders
KIAA0753	100.00	Neurodevelopmental disorders
WASHC4	98.56	Neurodevelopmental disorders
KIAA1109	99.99	Neurodevelopmental disorders
KIFBP	100.00	Neurodevelopmental disorders
CIP2A	100.00	Neurodevelopmental disorders
LNPK	99.88	Neurodevelopmental disorders
NEXMIF	100.00	Neurodevelopmental disorders
KIF11	100.00	Neurodevelopmental disorders
KIF16B	99.96	Neurodevelopmental disorders
KIF1A	98.74	Neurodevelopmental disorders
KIF21A	98.54	Neurodevelopmental disorders
KIF26B	99.95	Neurodevelopmental disorders
KIF2A	99.97	Neurodevelopmental disorders
KIF4A	99.86	Neurodevelopmental disorders
KIF5A	100.00	Neurodevelopmental disorders
KIF5C	100.00	Neurodevelopmental disorders
KIF7	99.64	Neurodevelopmental disorders
KIRREL3	100.00	Neurodevelopmental disorders
KIT	99.95	Neurodevelopmental disorders
KLC2	100.00	Neurodevelopmental disorders
KLF7	100.00	Neurodevelopmental disorders
KLF8	99.94	Neurodevelopmental disorders
KMT2A	99.70	Neurodevelopmental disorders
KMT2C	100.00	Neurodevelopmental disorders
KMT2D	99.98	Neurodevelopmental disorders
KMT2E	99.98	Neurodevelopmental disorders
KPTN	100.00	Neurodevelopmental disorders
KRAS	100.00	Neurodevelopmental disorders
KRBOX4	100.00	Neurodevelopmental disorders
KRT18	72.23	Neurodevelopmental disorders
KRT24	100.00	Neurodevelopmental disorders
KRT8	94.97	Neurodevelopmental disorders
KYNU	100.00	Neurodevelopmental disorders
L1CAM	99.98	Neurodevelopmental disorders
L2HGDH	99.75	Neurodevelopmental disorders
LAMA1	99.79	Neurodevelopmental disorders
LAMA2	100.00	Neurodevelopmental disorders
LAMB1	100.00	Neurodevelopmental disorders
LAMC3	98.42	Neurodevelopmental disorders
LAMP2	99.60	Neurodevelopmental disorders
LARGE1	100.00	Neurodevelopmental disorders
LARP7	100.00	Neurodevelopmental disorders
LAS1L	99.53	Neurodevelopmental disorders
LBR	100.00	Neurodevelopmental disorders
LCT	100.00	Neurodevelopmental disorders
LHX3	90.58	Neurodevelopmental disorders
LIG4	100.00	Neurodevelopmental disorders
LINS1	100.00	Neurodevelopmental disorders
LMAN2L	100.00	Neurodevelopmental disorders
LMBRD1	100.00	Neurodevelopmental disorders
ADGRL2	99.98	Neurodevelopmental disorders
LRP1	100.00	Neurodevelopmental disorders
LRP2	99.71	Neurodevelopmental disorders
LRP5	96.72	Neurodevelopmental disorders
LRPPRC	98.80	Neurodevelopmental disorders
LRRC7	100.00	Neurodevelopmental disorders
LYST	100.00	Neurodevelopmental disorders
MAGEL2	99.88	Neurodevelopmental disorders
MAGT1	100.00	Neurodevelopmental disorders
MAN1B1	99.81	Neurodevelopmental disorders
MAN2B1	99.30	Neurodevelopmental disorders
MANBA	99.49	Neurodevelopmental disorders
MAOA	98.99	Neurodevelopmental disorders
MAP1B	99.93	Neurodevelopmental disorders
MAP2	100.00	Neurodevelopmental disorders
MAP2K1	100.00	Neurodevelopmental disorders
MAP2K2	99.99	Neurodevelopmental disorders
MAPK1	99.88	Neurodevelopmental disorders
MAPK3	99.96	Neurodevelopmental disorders
MAPRE2	100.00	Neurodevelopmental disorders
MAPT	100.00	Neurodevelopmental disorders
MAT1A	100.00	Neurodevelopmental disorders
MBD3	100.00	Neurodevelopmental disorders
MBD5	100.00	Neurodevelopmental disorders
MBTPS2	100.00	Neurodevelopmental disorders
MCCC1	99.77	Neurodevelopmental disorders
MCCC2	99.65	Neurodevelopmental disorders
MCOLN1	95.75	Neurodevelopmental disorders
MCPH1	99.70	Neurodevelopmental disorders
MDM2	100.00	Neurodevelopmental disorders
MECP2	96.46	Neurodevelopmental disorders
MED12	99.02	Neurodevelopmental disorders
MED13L	99.95	Neurodevelopmental disorders
MED17	100.00	Neurodevelopmental disorders
MED23	99.94	Neurodevelopmental disorders
MED29	100.00	Neurodevelopmental disorders
MEF2C	100.00	Neurodevelopmental disorders
MET	100.00	Neurodevelopmental disorders
METTL23	100.00	Neurodevelopmental disorders
MFRP	100.00	Neurodevelopmental disorders
MFSD8	100.00	Neurodevelopmental disorders
MGAT2	100.00	Neurodevelopmental disorders
MIB1	100.00	Neurodevelopmental disorders
MID1	100.00	Neurodevelopmental disorders
MID2	100.00	Neurodevelopmental disorders
MIR222	100.00	Neurodevelopmental disorders
MKKS	100.00	Neurodevelopmental disorders
MLH1	100.00	Neurodevelopmental disorders
MLYCD	96.09	Neurodevelopmental disorders
MMAA	100.00	Neurodevelopmental disorders
MMACHC	100.00	Neurodevelopmental disorders
MMADHC	100.00	Neurodevelopmental disorders
MMP21	97.88	Neurodevelopmental disorders
MOCS1	99.94	Neurodevelopmental disorders
MOCS2	100.00	Neurodevelopmental disorders
MOGS	98.86	Neurodevelopmental disorders
MOV10	100.00	Neurodevelopmental disorders
MPDU1	100.00	Neurodevelopmental disorders
MPDZ	100.00	Neurodevelopmental disorders
MPHOSPH8	100.00	Neurodevelopmental disorders
MPI	100.00	Neurodevelopmental disorders
MPLKIP	100.00	Neurodevelopmental disorders
MPZ	99.80	Neurodevelopmental disorders
MRAP	100.00	Neurodevelopmental disorders
MRPS22	98.08	Neurodevelopmental disorders
MSH6	99.89	Neurodevelopmental disorders
MST1R	100.00	Neurodevelopmental disorders
MTFMT	97.83	Neurodevelopmental disorders
MTHFR	100.00	Neurodevelopmental disorders
MTHFS	94.81	Neurodevelopmental disorders
MTM1	99.91	Neurodevelopmental disorders
MTMR2	99.55	Neurodevelopmental disorders
MTR	100.00	Neurodevelopmental disorders
MTRR	100.00	Neurodevelopmental disorders
MMUT	99.99	Neurodevelopmental disorders
MVK	100.00	Neurodevelopmental disorders
MYCN	99.89	Neurodevelopmental disorders
MYH10	100.00	Neurodevelopmental disorders
MYH7B	99.85	Neurodevelopmental disorders
MYH9	99.99	Neurodevelopmental disorders
MYO1E	99.57	Neurodevelopmental disorders
MYO3A	100.00	Neurodevelopmental disorders
MYO5A	99.67	Neurodevelopmental disorders
MYO7A	99.88	Neurodevelopmental disorders
MYOC	100.00	Neurodevelopmental disorders
MYT1L	100.00	Neurodevelopmental disorders
NAA10	96.95	Neurodevelopmental disorders
NAA15	100.00	Neurodevelopmental disorders
NAGA	100.00	Neurodevelopmental disorders
NAGLU	96.69	Neurodevelopmental disorders
NALCN	100.00	Neurodevelopmental disorders
NANS	100.00	Neurodevelopmental disorders
NAV2	100.00	Neurodevelopmental disorders
NBEA	97.18	Neurodevelopmental disorders
NBN	100.00	Neurodevelopmental disorders
NCKAP1	100.00	Neurodevelopmental disorders
NDE1	100.00	Neurodevelopmental disorders
NDP	100.00	Neurodevelopmental disorders
NDST1	100.00	Neurodevelopmental disorders
NDUFA1	100.00	Neurodevelopmental disorders
NDUFA10	96.45	Neurodevelopmental disorders
NDUFA11	80.54	Neurodevelopmental disorders
NDUFA12	100.00	Neurodevelopmental disorders
NDUFAF5	99.96	Neurodevelopmental disorders
NDUFS1	100.00	Neurodevelopmental disorders
NDUFS2	100.00	Neurodevelopmental disorders
NDUFS3	100.00	Neurodevelopmental disorders
NDUFS4	99.96	Neurodevelopmental disorders
NDUFS7	93.34	Neurodevelopmental disorders
NDUFS8	100.00	Neurodevelopmental disorders
NDUFV1	99.62	Neurodevelopmental disorders
NEDD4L	98.66	Neurodevelopmental disorders
NEDD9	100.00	Neurodevelopmental disorders
NEU1	100.00	Neurodevelopmental disorders
NF1	98.78	Neurodevelopmental disorders
NFATC1	99.80	Neurodevelopmental disorders
NFIA	99.95	Neurodevelopmental disorders
NFIX	94.60	Neurodevelopmental disorders
NGF	100.00	Neurodevelopmental disorders
NHEJ1	100.00	Neurodevelopmental disorders
NHP2	100.00	Neurodevelopmental disorders
NHS	92.80	Neurodevelopmental disorders
NIPBL	99.48	Neurodevelopmental disorders
NKX2-1	97.73	Neurodevelopmental disorders
NLGN1	100.00	Neurodevelopmental disorders
NLGN3	99.95	Neurodevelopmental disorders
NLGN4X	100.00	Neurodevelopmental disorders
NLGN4Y	60.20	Neurodevelopmental disorders
NOG	99.95	Neurodevelopmental disorders
NONO	100.00	Neurodevelopmental disorders
NOTCH3	93.46	Neurodevelopmental disorders
NPC1	97.50	Neurodevelopmental disorders
NPC2	100.00	Neurodevelopmental disorders
NPHP1	100.00	Neurodevelopmental disorders
NPHP3	99.99	Neurodevelopmental disorders
NR2F1	99.99	Neurodevelopmental disorders
NR3C2	99.99	Neurodevelopmental disorders
NR4A2	100.00	Neurodevelopmental disorders
NRAS	100.00	Neurodevelopmental disorders
NRCAM	100.00	Neurodevelopmental disorders
NRG3	99.55	Neurodevelopmental disorders
NRIP1	100.00	Neurodevelopmental disorders
NRXN1	99.87	Neurodevelopmental disorders
NRXN2	93.76	Neurodevelopmental disorders
NSD1	100.00	Neurodevelopmental disorders
NSDHL	100.00	Neurodevelopmental disorders
NSUN2	99.69	Neurodevelopmental disorders
NTRK1	98.36	Neurodevelopmental disorders
NTRK2	100.00	Neurodevelopmental disorders
NUAK1	99.69	Neurodevelopmental disorders
NXF5	98.08	Neurodevelopmental disorders
OBSL1	99.88	Neurodevelopmental disorders
OCA2	99.49	Neurodevelopmental disorders
OCLN	100.00	Neurodevelopmental disorders
OCRL	98.81	Neurodevelopmental disorders
ODC1	100.00	Neurodevelopmental disorders
OFD1	97.13	Neurodevelopmental disorders
OGT	99.90	Neurodevelopmental disorders
OPHN1	99.94	Neurodevelopmental disorders
SLC25A15	100.00	Neurodevelopmental disorders
OTC	99.17	Neurodevelopmental disorders
OXTR	92.68	Neurodevelopmental disorders
PACS1	98.26	Neurodevelopmental disorders
PAFAH1B1	100.00	Neurodevelopmental disorders
PAH	100.00	Neurodevelopmental disorders
PAK3	98.75	Neurodevelopmental disorders
PANK2	100.00	Neurodevelopmental disorders
PARD3B	100.00	Neurodevelopmental disorders
PARP1	100.00	Neurodevelopmental disorders
PAX1	96.00	Neurodevelopmental disorders
PAX5	100.00	Neurodevelopmental disorders
PAX6	100.00	Neurodevelopmental disorders
PAX8	99.96	Neurodevelopmental disorders
PBRM1	100.00	Neurodevelopmental disorders
PODXL	100.00	Neurodevelopmental disorders
PCDH10	99.96	Neurodevelopmental disorders
PCDH19	98.99	Neurodevelopmental disorders
PCGF2	100.00	Neurodevelopmental disorders
PCLO	100.00	Neurodevelopmental disorders
PCNT	99.88	Neurodevelopmental disorders
PDE1C	99.99	Neurodevelopmental disorders
PDE4D	99.96	Neurodevelopmental disorders
PDE8B	98.72	Neurodevelopmental disorders
PDHA1	92.64	Neurodevelopmental disorders
PDHX	100.00	Neurodevelopmental disorders
PDSS1	85.11	Neurodevelopmental disorders
PDSS2	100.00	Neurodevelopmental disorders
PEPD	97.88	Neurodevelopmental disorders
PER2	100.00	Neurodevelopmental disorders
PEX1	100.00	Neurodevelopmental disorders
PEX10	87.10	Neurodevelopmental disorders
PEX11B	100.00	Neurodevelopmental disorders
PEX12	100.00	Neurodevelopmental disorders
PEX13	100.00	Neurodevelopmental disorders
PEX16	99.97	Neurodevelopmental disorders
PEX19	100.00	Neurodevelopmental disorders
PEX2	100.00	Neurodevelopmental disorders
PEX26	100.00	Neurodevelopmental disorders
PEX3	100.00	Neurodevelopmental disorders
PEX5	100.00	Neurodevelopmental disorders
PEX6	99.74	Neurodevelopmental disorders
PEX7	95.60	Neurodevelopmental disorders
PGA5	100.00	Neurodevelopmental disorders
PGAP1	100.00	Neurodevelopmental disorders
PGAP2	100.00	Neurodevelopmental disorders
PGAP3	98.48	Neurodevelopmental disorders
PGK1	99.88	Neurodevelopmental disorders
PHF2	99.95	Neurodevelopmental disorders
PHF21A	100.00	Neurodevelopmental disorders
PHF6	100.00	Neurodevelopmental disorders
PHF8	100.00	Neurodevelopmental disorders
PHGDH	100.00	Neurodevelopmental disorders
PHIP	99.68	Neurodevelopmental disorders
PHKA2	99.88	Neurodevelopmental disorders
PHKG2	100.00	Neurodevelopmental disorders
PIAS1	99.99	Neurodevelopmental disorders
PIGG	100.00	Neurodevelopmental disorders
PIGL	100.00	Neurodevelopmental disorders
PIGN	100.00	Neurodevelopmental disorders
PIGO	100.00	Neurodevelopmental disorders
PIGS	99.99	Neurodevelopmental disorders
PIGT	100.00	Neurodevelopmental disorders
PIGV	100.00	Neurodevelopmental disorders
PIGW	100.00	Neurodevelopmental disorders
PIGY	100.00	Neurodevelopmental disorders
PIK3R2	88.52	Neurodevelopmental disorders
PLA2G6	100.00	Neurodevelopmental disorders
PLCB1	100.00	Neurodevelopmental disorders
PLP1	100.00	Neurodevelopmental disorders
PLXNB1	100.00	Neurodevelopmental disorders
PMM2	100.00	Neurodevelopmental disorders
PNKP	99.84	Neurodevelopmental disorders
PNP	100.00	Neurodevelopmental disorders
POC1A	99.00	Neurodevelopmental disorders
POGZ	100.00	Neurodevelopmental disorders
POLG	100.00	Neurodevelopmental disorders
POLR2M	100.00	Neurodevelopmental disorders
POLR3A	100.00	Neurodevelopmental disorders
POLR3B	100.00	Neurodevelopmental disorders
POMC	100.00	Neurodevelopmental disorders
POMGNT1	100.00	Neurodevelopmental disorders
POMGNT2	100.00	Neurodevelopmental disorders
POMT1	100.00	Neurodevelopmental disorders
POMT2	99.53	Neurodevelopmental disorders
PORCN	98.59	Neurodevelopmental disorders
POT1	99.99	Neurodevelopmental disorders
POU1F1	100.00	Neurodevelopmental disorders
POU3F3	71.08	Neurodevelopmental disorders
POU3F4	100.00	Neurodevelopmental disorders
PPM1D	100.00	Neurodevelopmental disorders
HCRT	100.00	Neurodevelopmental disorders
PPP1CB	100.00	Neurodevelopmental disorders
PPP1R1B	100.00	Neurodevelopmental disorders
PPP2R1A	100.00	Neurodevelopmental disorders
PPP2R5D	100.00	Neurodevelopmental disorders
PPT1	100.00	Neurodevelopmental disorders
PQBP1	99.91	Neurodevelopmental disorders
PRICKLE1	100.00	Neurodevelopmental disorders
PRKAR1A	100.00	Neurodevelopmental disorders
PRKRA	99.64	Neurodevelopmental disorders
PRMT7	100.00	Neurodevelopmental disorders
PRODH	88.26	Neurodevelopmental disorders
PRPS1	99.91	Neurodevelopmental disorders
PRR12	99.99	Neurodevelopmental disorders
PRRT2	100.00	Neurodevelopmental disorders
PRSS12	100.00	Neurodevelopmental disorders
PSAP	100.00	Neurodevelopmental disorders
PSEN1	100.00	Neurodevelopmental disorders
PTCH1	98.82	Neurodevelopmental disorders
PTCHD1	99.78	Neurodevelopmental disorders
PTDSS1	100.00	Neurodevelopmental disorders
PTEN	99.45	Neurodevelopmental disorders
PTHLH	100.00	Neurodevelopmental disorders
PTK7	100.00	Neurodevelopmental disorders
PTPN11	94.43	Neurodevelopmental disorders
PUF60	99.31	Neurodevelopmental disorders
PUM1	100.00	Neurodevelopmental disorders
PURA	95.47	Neurodevelopmental disorders
PUS1	100.00	Neurodevelopmental disorders
PUS3	100.00	Neurodevelopmental disorders
PUS7	100.00	Neurodevelopmental disorders
NECTIN1	99.19	Neurodevelopmental disorders
PYCR1	100.00	Neurodevelopmental disorders
PYCR2	100.00	Neurodevelopmental disorders
PYGL	100.00	Neurodevelopmental disorders
QRICH1	100.00	Neurodevelopmental disorders
RAB18	99.99	Neurodevelopmental disorders
RAB27A	100.00	Neurodevelopmental disorders
RAB39B	100.00	Neurodevelopmental disorders
RAB3GAP1	100.00	Neurodevelopmental disorders
RAB3GAP2	100.00	Neurodevelopmental disorders
RAB40AL	99.91	Neurodevelopmental disorders
RABL6	99.42	Neurodevelopmental disorders
NCOA3	88.47	Neurodevelopmental disorders
RAD21	100.00	Neurodevelopmental disorders
RAF1	100.00	Neurodevelopmental disorders
RAI1	93.59	Neurodevelopmental disorders
RALGAPB	100.00	Neurodevelopmental disorders
RALGDS	92.25	Neurodevelopmental disorders
RANBP17	98.10	Neurodevelopmental disorders
RAPSN	100.00	Neurodevelopmental disorders
RARS2	100.00	Neurodevelopmental disorders
RASGEF1B	100.00	Neurodevelopmental disorders
RBBP8	99.97	Neurodevelopmental disorders
RBFOX1	98.87	Neurodevelopmental disorders
RBL2	98.63	Neurodevelopmental disorders
RBM10	99.23	Neurodevelopmental disorders
RBM28	98.67	Neurodevelopmental disorders
RELN	100.00	Neurodevelopmental disorders
RERE	99.81	Neurodevelopmental disorders
REV3L	99.86	Neurodevelopmental disorders
RFT1	99.87	Neurodevelopmental disorders
RFX3	100.00	Neurodevelopmental disorders
RFX6	100.00	Neurodevelopmental disorders
RIC8A	99.98	Neurodevelopmental disorders
RIMS1	100.00	Neurodevelopmental disorders
RIT1	100.00	Neurodevelopmental disorders
RMND1	99.49	Neurodevelopmental disorders
RMRP	100.00	Neurodevelopmental disorders
RNASEH2A	100.00	Neurodevelopmental disorders
RNASEH2B	94.58	Neurodevelopmental disorders
RNASEH2C	100.00	Neurodevelopmental disorders
RNASET2	100.00	Neurodevelopmental disorders
RNF125	99.99	Neurodevelopmental disorders
RNF213	100.00	Neurodevelopmental disorders
ROGDI	91.40	Neurodevelopmental disorders
RP2	99.78	Neurodevelopmental disorders
RPGRIP1L	96.40	Neurodevelopmental disorders
RPL15	99.14	Neurodevelopmental disorders
RPS6KA2	100.00	Neurodevelopmental disorders
RPS6KA3	96.78	Neurodevelopmental disorders
RRAS	97.75	Neurodevelopmental disorders
RTEL1	100.00	Neurodevelopmental disorders
RTN2	99.44	Neurodevelopmental disorders
RTN4IP1	100.00	Neurodevelopmental disorders
RUNX1	99.48	Neurodevelopmental disorders
RUVBL1	100.00	Neurodevelopmental disorders
RYR1	99.39	Neurodevelopmental disorders
RYR2	100.00	Neurodevelopmental disorders
S100G	98.92	Neurodevelopmental disorders
SACS	99.95	Neurodevelopmental disorders
SALL1	100.00	Neurodevelopmental disorders
SAMHD1	100.00	Neurodevelopmental disorders
SARDH	99.83	Neurodevelopmental disorders
SARS2	100.00	Neurodevelopmental disorders
SATB2	99.34	Neurodevelopmental disorders
SBF1	98.38	Neurodevelopmental disorders
SC5D	100.00	Neurodevelopmental disorders
SCAPER	99.94	Neurodevelopmental disorders
SCN1A	100.00	Neurodevelopmental disorders
SCN2A	100.00	Neurodevelopmental disorders
SCN7A	100.00	Neurodevelopmental disorders
SCN8A	100.00	Neurodevelopmental disorders
SCN9A	99.99	Neurodevelopmental disorders
SCO2	93.85	Neurodevelopmental disorders
SDCCAG8	100.00	Neurodevelopmental disorders
SDHA	95.31	Neurodevelopmental disorders
SDK1	96.50	Neurodevelopmental disorders
SERAC1	100.00	Neurodevelopmental disorders
SETBP1	100.00	Neurodevelopmental disorders
SETD1A	100.00	Neurodevelopmental disorders
SETD1B	99.89	Neurodevelopmental disorders
SETD2	100.00	Neurodevelopmental disorders
SETD5	100.00	Neurodevelopmental disorders
NR5A1	87.73	Neurodevelopmental disorders
SFPQ	99.89	Neurodevelopmental disorders
SGCA	100.00	Neurodevelopmental disorders
SGSH	99.85	Neurodevelopmental disorders
SHANK1	99.69	Neurodevelopmental disorders
SHANK2	100.00	Neurodevelopmental disorders
SHANK3	90.31	Neurodevelopmental disorders
SHC1	100.00	Neurodevelopmental disorders
SHH	99.47	Neurodevelopmental disorders
SHOC2	100.00	Neurodevelopmental disorders
SHOX	98.69	Neurodevelopmental disorders
SHROOM4	99.98	Neurodevelopmental disorders
SIL1	99.95	Neurodevelopmental disorders
SIN3A	97.83	Neurodevelopmental disorders
SIX3	99.61	Neurodevelopmental disorders
HHAT	92.45	Neurodevelopmental disorders
SLC12A6	100.00	Neurodevelopmental disorders
SLC16A2	99.97	Neurodevelopmental disorders
SLC17A5	100.00	Neurodevelopmental disorders
SLC1A1	100.00	Neurodevelopmental disorders
SLC1A4	99.98	Neurodevelopmental disorders
SLC20A2	100.00	Neurodevelopmental disorders
SLC24A2	99.82	Neurodevelopmental disorders
SLC25A1	98.83	Neurodevelopmental disorders
SLC25A12	100.00	Neurodevelopmental disorders
SLC25A13	100.00	Neurodevelopmental disorders
SLC25A22	100.00	Neurodevelopmental disorders
SLC25A24	99.90	Neurodevelopmental disorders
SLC26A9	100.00	Neurodevelopmental disorders
SLC2A1	100.00	Neurodevelopmental disorders
SLC2A2	99.95	Neurodevelopmental disorders
SLC33A1	100.00	Neurodevelopmental disorders
SLC35A2	100.00	Neurodevelopmental disorders
SLC35C1	100.00	Neurodevelopmental disorders
SLC39A8	98.92	Neurodevelopmental disorders
SLC46A1	99.98	Neurodevelopmental disorders
SLC4A4	100.00	Neurodevelopmental disorders
SLC5A2	99.99	Neurodevelopmental disorders
SLC5A5	99.97	Neurodevelopmental disorders
SLC6A1	100.00	Neurodevelopmental disorders
SLC6A17	100.00	Neurodevelopmental disorders
SLC6A3	100.00	Neurodevelopmental disorders
SLC6A4	100.00	Neurodevelopmental disorders
SLC6A8	99.41	Neurodevelopmental disorders
SLC7A7	100.00	Neurodevelopmental disorders
SLC9A6	99.66	Neurodevelopmental disorders
SLC9A7	95.89	Neurodevelopmental disorders
SLC9A9	100.00	Neurodevelopmental disorders
SLCO1B1	99.89	Neurodevelopmental disorders
SLCO1B3	99.94	Neurodevelopmental disorders
SLX4	100.00	Neurodevelopmental disorders
SMAD2	100.00	Neurodevelopmental disorders
SMAD4	98.47	Neurodevelopmental disorders
SMARCA2	98.99	Neurodevelopmental disorders
SMARCA4	100.00	Neurodevelopmental disorders
SMARCB1	100.00	Neurodevelopmental disorders
SMARCC2	100.00	Neurodevelopmental disorders
SMARCE1	98.46	Neurodevelopmental disorders
SMC1A	99.87	Neurodevelopmental disorders
SMC3	100.00	Neurodevelopmental disorders
SMG6	96.90	Neurodevelopmental disorders
SMOC1	98.05	Neurodevelopmental disorders
SMPD1	100.00	Neurodevelopmental disorders
SNAP29	100.00	Neurodevelopmental disorders
SNIP1	100.00	Neurodevelopmental disorders
SNRPA	100.00	Neurodevelopmental disorders
SNX14	99.98	Neurodevelopmental disorders
SNX19	99.99	Neurodevelopmental disorders
SOBP	95.50	Neurodevelopmental disorders
SON	100.00	Neurodevelopmental disorders
SOS1	100.00	Neurodevelopmental disorders
SOS2	99.96	Neurodevelopmental disorders
SOX10	95.36	Neurodevelopmental disorders
SOX11	100.00	Neurodevelopmental disorders
SOX2	95.35	Neurodevelopmental disorders
SOX3	97.06	Neurodevelopmental disorders
SOX5	100.00	Neurodevelopmental disorders
SPAST	99.83	Neurodevelopmental disorders
AFG2A	99.97	Neurodevelopmental disorders
SPG11	100.00	Neurodevelopmental disorders
SPG7	95.78	Neurodevelopmental disorders
SPR	99.98	Neurodevelopmental disorders
SPRED1	100.00	Neurodevelopmental disorders
SPTAN1	100.00	Neurodevelopmental disorders
SPTLC1	99.27	Neurodevelopmental disorders
SRCAP	100.00	Neurodevelopmental disorders
SRD5A3	98.61	Neurodevelopmental disorders
SREBF2	99.91	Neurodevelopmental disorders
SRGAP3	100.00	Neurodevelopmental disorders
SRPX2	99.04	Neurodevelopmental disorders
ST3GAL3	100.00	Neurodevelopmental disorders
ST3GAL5	90.70	Neurodevelopmental disorders
STAG1	100.00	Neurodevelopmental disorders
STAT5B	100.00	Neurodevelopmental disorders
STIL	100.00	Neurodevelopmental disorders
STRA6	100.00	Neurodevelopmental disorders
STS	99.91	Neurodevelopmental disorders
STT3A	100.00	Neurodevelopmental disorders
STT3B	100.00	Neurodevelopmental disorders
STX11	100.00	Neurodevelopmental disorders
STXBP1	100.00	Neurodevelopmental disorders
STXBP5	100.00	Neurodevelopmental disorders
SUCLA2	99.86	Neurodevelopmental disorders
SUCLG1	93.27	Neurodevelopmental disorders
SUOX	100.00	Neurodevelopmental disorders
SUPT16H	100.00	Neurodevelopmental disorders
SURF1	82.91	Neurodevelopmental disorders
KMT5B	100.00	Neurodevelopmental disorders
SYN1	96.00	Neurodevelopmental disorders
SYNE1	100.00	Neurodevelopmental disorders
SYNGAP1	99.76	Neurodevelopmental disorders
SYNM	92.93	Neurodevelopmental disorders
SYNPO	100.00	Neurodevelopmental disorders
SYP	97.84	Neurodevelopmental disorders
SYT14	92.28	Neurodevelopmental disorders
SYT3	99.96	Neurodevelopmental disorders
TAF1	99.98	Neurodevelopmental disorders
TAF13	100.00	Neurodevelopmental disorders
TAF2	100.00	Neurodevelopmental disorders
TAT	100.00	Neurodevelopmental disorders
TBC1D24	99.99	Neurodevelopmental disorders
TBC1D7	100.00	Neurodevelopmental disorders
TBCE	100.00	Neurodevelopmental disorders
TBCK	100.00	Neurodevelopmental disorders
TBR1	99.60	Neurodevelopmental disorders
TBX1	83.55	Neurodevelopmental disorders
TCF20	100.00	Neurodevelopmental disorders
TCF3	99.97	Neurodevelopmental disorders
TCF4	100.00	Neurodevelopmental disorders
TCF7L2	100.00	Neurodevelopmental disorders
TDG	100.00	Neurodevelopmental disorders
TECR	100.00	Neurodevelopmental disorders
TELO2	98.19	Neurodevelopmental disorders
TENM1	99.91	Neurodevelopmental disorders
TET3	100.00	Neurodevelopmental disorders
TFAP2A	99.96	Neurodevelopmental disorders
TGFBR1	91.80	Neurodevelopmental disorders
TGFBR2	100.00	Neurodevelopmental disorders
TGIF1	100.00	Neurodevelopmental disorders
TGM1	100.00	Neurodevelopmental disorders
TH	98.79	Neurodevelopmental disorders
THOC2	99.62	Neurodevelopmental disorders
THOC6	100.00	Neurodevelopmental disorders
THRA	100.00	Neurodevelopmental disorders
THRB	100.00	Neurodevelopmental disorders
THSD1	100.00	Neurodevelopmental disorders
TIMM8A	99.00	Neurodevelopmental disorders
TINF2	99.94	Neurodevelopmental disorders
TMCO1	100.00	Neurodevelopmental disorders
TMEM107	100.00	Neurodevelopmental disorders
TMEM135	100.00	Neurodevelopmental disorders
TMEM165	91.64	Neurodevelopmental disorders
TMEM216	99.87	Neurodevelopmental disorders
TMEM231	100.00	Neurodevelopmental disorders
TMEM237	99.85	Neurodevelopmental disorders
TMEM67	99.95	Neurodevelopmental disorders
TMEM70	100.00	Neurodevelopmental disorders
TMLHE	99.11	Neurodevelopmental disorders
TNIK	100.00	Neurodevelopmental disorders
TNK2	99.86	Neurodevelopmental disorders
TNRC6B	99.93	Neurodevelopmental disorders
TOPORS	100.00	Neurodevelopmental disorders
TOR1A	99.70	Neurodevelopmental disorders
TDO2	100.00	Neurodevelopmental disorders
TPK1	99.99	Neurodevelopmental disorders
THPO	99.80	Neurodevelopmental disorders
ACD	99.99	Neurodevelopmental disorders
TPTE	99.28	Neurodevelopmental disorders
TRAF7	99.04	Neurodevelopmental disorders
TRAPPC11	99.97	Neurodevelopmental disorders
TRAPPC12	99.96	Neurodevelopmental disorders
TRAPPC9	99.15	Neurodevelopmental disorders
TREX1	100.00	Neurodevelopmental disorders
TRHR	100.00	Neurodevelopmental disorders
TRIM10	100.00	Neurodevelopmental disorders
TRIM3	100.00	Neurodevelopmental disorders
TRIM32	100.00	Neurodevelopmental disorders
TRIO	98.86	Neurodevelopmental disorders
TRIP12	100.00	Neurodevelopmental disorders
TRMT10A	100.00	Neurodevelopmental disorders
TRPM3	100.00	Neurodevelopmental disorders
TRPM6	100.00	Neurodevelopmental disorders
TRPV4	100.00	Neurodevelopmental disorders
TRPV6	100.00	Neurodevelopmental disorders
TSC1	100.00	Neurodevelopmental disorders
TSC2	99.94	Neurodevelopmental disorders
TSEN54	91.60	Neurodevelopmental disorders
TSHR	100.00	Neurodevelopmental disorders
TSPAN7	99.05	Neurodevelopmental disorders
SKIC3	99.99	Neurodevelopmental disorders
TTC8	99.73	Neurodevelopmental disorders
TTC9	91.41	Neurodevelopmental disorders
TTI2	100.00	Neurodevelopmental disorders
TTN	100.00	Neurodevelopmental disorders
TTR	100.00	Neurodevelopmental disorders
TUBA1A	100.00	Neurodevelopmental disorders
TUBA8	99.98	Neurodevelopmental disorders
TUBB	100.00	Neurodevelopmental disorders
TUBB2B	100.00	Neurodevelopmental disorders
TUBB3	99.01	Neurodevelopmental disorders
TUBGCP4	99.17	Neurodevelopmental disorders
TUBGCP6	100.00	Neurodevelopmental disorders
TUSC3	100.00	Neurodevelopmental disorders
TWIST1	97.62	Neurodevelopmental disorders
UBE2A	100.00	Neurodevelopmental disorders
UBE3A	100.00	Neurodevelopmental disorders
UBE3B	100.00	Neurodevelopmental disorders
UBR1	100.00	Neurodevelopmental disorders
UBTF	100.00	Neurodevelopmental disorders
UNC50	100.00	Neurodevelopmental disorders
UNC80	99.98	Neurodevelopmental disorders
UPB1	100.00	Neurodevelopmental disorders
UPF3B	99.86	Neurodevelopmental disorders
UROC1	99.97	Neurodevelopmental disorders
USP9X	100.00	Neurodevelopmental disorders
UTP6	100.00	Neurodevelopmental disorders
VCP	97.10	Neurodevelopmental disorders
VLDLR	96.00	Neurodevelopmental disorders
VPS13B	100.00	Neurodevelopmental disorders
VPS39	99.94	Neurodevelopmental disorders
VPS4A	100.00	Neurodevelopmental disorders
VRK1	100.00	Neurodevelopmental disorders
WAC	100.00	Neurodevelopmental disorders
WDFY3	100.00	Neurodevelopmental disorders
WDR11	100.00	Neurodevelopmental disorders
WDR13	99.05	Neurodevelopmental disorders
WDR19	100.00	Neurodevelopmental disorders
WDR26	99.54	Neurodevelopmental disorders
WDR4	100.00	Neurodevelopmental disorders
WDR45	100.00	Neurodevelopmental disorders
WDR45B	99.94	Neurodevelopmental disorders
WDR62	100.00	Neurodevelopmental disorders
WDR73	100.00	Neurodevelopmental disorders
WDR81	99.63	Neurodevelopmental disorders
NSD2	100.00	Neurodevelopmental disorders
WNT2	100.00	Neurodevelopmental disorders
WRN	100.00	Neurodevelopmental disorders
WWOX	100.00	Neurodevelopmental disorders
XPA	98.10	Neurodevelopmental disorders
XPNPEP3	100.00	Neurodevelopmental disorders
XPO5	100.00	Neurodevelopmental disorders
XYLT1	89.98	Neurodevelopmental disorders
YAP1	99.86	Neurodevelopmental disorders
YEATS2	100.00	Neurodevelopmental disorders
YTHDC1	99.99	Neurodevelopmental disorders
YWHAE	91.19	Neurodevelopmental disorders
YY1	99.76	Neurodevelopmental disorders
ZBTB11	100.00	Neurodevelopmental disorders
ZBTB16	100.00	Neurodevelopmental disorders
ZBTB18	99.54	Neurodevelopmental disorders
ZBTB20	100.00	Neurodevelopmental disorders
ZBTB24	100.00	Neurodevelopmental disorders
ZC3H14	99.55	Neurodevelopmental disorders
ZC3H4	99.95	Neurodevelopmental disorders
ZCCHC12	100.00	Neurodevelopmental disorders
ZDHHC15	98.46	Neurodevelopmental disorders
ZDHHC9	100.00	Neurodevelopmental disorders
ZEB2	99.96	Neurodevelopmental disorders
ZFHX4	100.00	Neurodevelopmental disorders
ZFP57	100.00	Neurodevelopmental disorders
ZFYVE26	100.00	Neurodevelopmental disorders
ZIC2	95.66	Neurodevelopmental disorders
ZMYM3	99.98	Neurodevelopmental disorders
ZMYND11	100.00	Neurodevelopmental disorders
ZPR1	100.00	Neurodevelopmental disorders
ZNF292	100.00	Neurodevelopmental disorders
ZNF407	100.00	Neurodevelopmental disorders
ZNF41	100.00	Neurodevelopmental disorders
ZNF526	100.00	Neurodevelopmental disorders
ZNF559	100.00	Neurodevelopmental disorders
ZNF592	100.00	Neurodevelopmental disorders
ZNF594	100.00	Neurodevelopmental disorders
ZNF599	99.76	Neurodevelopmental disorders
ZNF674	100.00	Neurodevelopmental disorders
ZNF697	99.70	Neurodevelopmental disorders
ZNF711	99.98	Neurodevelopmental disorders
ZNF774	100.00	Neurodevelopmental disorders
ZNF8	100.00	Neurodevelopmental disorders
ZNF81	99.55	Neurodevelopmental disorders
ZNF827	100.00	Neurodevelopmental disorders
ZNRF3	94.23	Neurodevelopmental disorders
ZWILCH	100.00	Neurodevelopmental disorders

Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	100.00	No comment
ABCC6	100.00	No comment
ABCC9	100.00	No comment
ABCD1	99.93	No comment
ABCD4	100.00	No comment
ABCG5	100.00	No comment
ABHD5	99.98	No comment
ABI2	100.00	No comment
ACAD9	100.00	No comment
ACAT1	97.28	No comment
ACO2	100.00	No comment
ACOX1	100.00	No comment
ACSF3	100.00	No comment
ACSL4	100.00	No comment
ACTB	100.00	No comment
ACTG1	100.00	No comment
ACVR1	100.00	No comment
ACY1	100.00	No comment
ADAR	100.00	No comment
ADAT3	97.38	No comment
ADCY5	94.52	No comment
ADGRG1	100.00	No comment
ADK	100.00	No comment
ADNP	100.00	No comment
ADRA2B	100.00	No comment
ADSL	100.00	No comment
AFF2	100.00	No comment
AFF3	99.89	No comment
AFP	100.00	No comment
AGA	100.00	No comment
AGBL4	100.00	No comment
AGL	99.98	No comment
AGPAT2	96.18	No comment
AGXT	100.00	No comment
AGTR2	100.00	No comment
AHCY	100.00	No comment
AHDC1	100.00	No comment
AHI1	100.00	No comment
AIFM1	100.00	No comment
AIMP1	100.00	No comment
AK1	100.00	No comment
AKT1	100.00	No comment
AKT1S1	99.49	No comment
AKT3	100.00	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.95	No comment
ALDH4A1	97.15	No comment
ALDH5A1	83.59	No comment
ALG1	92.65	No comment
ALG11	100.00	No comment
ALG12	100.00	No comment
ALG13	99.96	No comment
ALG2	99.94	No comment
ALG3	99.22	No comment
ALG6	100.00	No comment
ALG9	98.65	No comment
ALX1	100.00	No comment
ALX4	99.70	No comment
AMER1	100.00	No comment
AMPD2	100.00	No comment
AMT	99.94	No comment
ANK2	100.00	No comment
ANK3	100.00	No comment
ANKH	100.00	No comment
ANKRD11	100.00	No comment
ANO10	100.00	No comment
ANO3	100.00	No comment
ANO5	100.00	No comment
ANTXR1	100.00	No comment
AP1S1	100.00	No comment
AP1S2	100.00	No comment
AP3B1	100.00	No comment
AP4B1	100.00	No comment
AP4E1	100.00	No comment
AP4M1	100.00	No comment
AP4S1	87.40	No comment
APAF1	100.00	No comment
APC	100.00	No comment
APTX	100.00	No comment
AQP7	100.00	No comment
AR	99.29	No comment
ARFGEF2	100.00	No comment
ARG1	100.00	No comment
ARHGEF4	100.00	No comment
ARHGEF6	100.00	No comment
ARHGEF7	99.95	No comment
ARHGEF9	100.00	No comment
ARID1A	94.64	No comment
ARID1B	92.99	No comment
ARID2	100.00	No comment
ARL13B	100.00	No comment
ARL6	100.00	No comment
ARSL	100.00	No comment
ARX	78.98	No comment
ASH1L	100.00	No comment
ASL	100.00	No comment
ASNS	100.00	No comment
ASPA	100.00	No comment
ASPM	100.00	No comment
ASS1	99.87	No comment
ASTN2	91.86	No comment
ASXL1	99.91	No comment
ASXL3	100.00	No comment
ATIC	99.06	No comment
ATL1	100.00	No comment
ATM	100.00	No comment
ATP13A2	99.17	No comment
ATP1A2	100.00	No comment
ATP2A2	100.00	No comment
ATP6AP2	99.95	No comment
ATP6V0A2	100.00	No comment
ATP7A	100.00	No comment
ATP8A2	99.93	No comment
ATRX	100.00	No comment
ATXN1	100.00	No comment
AUH	96.44	No comment
AUTS2	98.20	No comment
NLRP3	100.00	No comment
AVPR2	100.00	No comment
AXIN1	100.00	No comment
B3GLCT	94.89	No comment
B4GALT1	100.00	No comment
B4GALT7	93.23	No comment
BBS1	100.00	No comment
BBS10	100.00	No comment
BBS12	100.00	No comment
BBS2	100.00	No comment
BBS4	100.00	No comment
BBS5	100.00	No comment
BBS7	100.00	No comment
BBS9	100.00	No comment
BCKDHA	100.00	No comment
BCKDHB	100.00	No comment
BCL11A	100.00	No comment
BCOR	100.00	No comment
BCS1L	100.00	No comment
BIN1	100.00	No comment
BIRC6	100.00	No comment
BLM	100.00	No comment
BRAF	96.97	No comment
BRCA2	100.00	No comment
BRIP1	100.00	No comment
BRWD3	100.00	No comment
BSCL2	100.00	No comment
BTD	100.00	No comment
BUB1B	100.00	No comment
C12ORF57	100.00	No comment
MTRFR	100.00	No comment
CA2	100.00	No comment
CA8	100.00	No comment
CACNA1A	98.78	No comment
CACNA1B	96.03	No comment
CACNA1C	100.00	No comment
CACNA1D	100.00	No comment
CACNA1F	99.89	No comment
CACNA1G	100.00	No comment
CACNA1H	97.35	No comment
CACNA2D3	98.60	No comment
CACNB2	100.00	No comment
CACNG2	100.00	No comment
CALM1	100.00	No comment
CAMK2B	99.93	No comment
CAMTA1	99.39	No comment
CANT1	100.00	No comment
CASK	100.00	No comment
CBL	100.00	No comment
CBS	100.00	No comment
CC2D1A	100.00	No comment
CC2D2A	98.16	No comment
CCAR2	100.00	No comment
CCBE1	99.97	No comment
CCDC22	99.93	No comment
CCDC39	100.00	No comment
CCDC78	100.00	No comment
CCDC88C	99.92	No comment
CCNT1	100.00	No comment
CCSER1	100.00	No comment
CD163L1	100.00	No comment
CDH15	97.06	No comment
CDK5RAP2	100.00	No comment
CDK6	100.00	No comment
CDKL5	100.00	No comment
CDKN1C	62.25	No comment
CDON	100.00	No comment
CELSR1	93.72	No comment
CENPE	100.00	No comment
CENPJ	100.00	No comment
CEP135	100.00	No comment
CEP152	100.00	No comment
CEP290	99.99	No comment
CEP41	100.00	No comment
CEP55	100.00	No comment
CEP57	100.00	No comment
CFAP53	100.00	No comment
CHAMP1	100.00	No comment
CHAT	100.00	No comment
CHD1	100.00	No comment
CHD2	100.00	No comment
CHD3	97.58	No comment
CHD7	100.00	No comment
CHD8	100.00	No comment
CHKB	99.69	No comment
CHRNA2	100.00	No comment
CHRNA4	97.18	No comment
CHRND	100.00	No comment
CIC	99.99	No comment
CLCN4	100.00	No comment
CLCN7	94.99	No comment
CLCNKB	100.00	No comment
CLIC2	100.00	No comment
CLIP1	100.00	No comment
CLN3	100.00	No comment
CLN5	99.94	No comment
CLN6	90.35	No comment
CLN8	100.00	No comment
CLTC	100.00	No comment
CMIP	99.97	No comment
CNKSR2	100.00	No comment
CNOT1	100.00	No comment
CNOT3	100.00	No comment
CNOT4	100.00	No comment
CNOT6	100.00	No comment
CNTN3	100.00	No comment
CNTN4	100.00	No comment
CNTNAP2	99.85	No comment
COG1	99.24	No comment
COG5	100.00	No comment
COG6	100.00	No comment
COG7	100.00	No comment
COG8	100.00	No comment
COL11A1	100.00	No comment
COL1A2	99.93	No comment
COL4A1	98.71	No comment
COL4A2	100.00	No comment
CERT1	100.00	No comment
COLEC11	100.00	No comment
COQ2	97.15	No comment
COQ8A	100.00	No comment
COX10	100.00	No comment
COX15	100.00	No comment
CP	100.00	No comment
CYP2A6	100.00	No comment
CPLANE1	100.00	No comment
CYP21A2	100.00	No comment
CRADD	100.00	No comment
CRBN	100.00	No comment
CREB1	100.00	No comment
CREBBP	100.00	No comment
CRPPA	95.75	No comment
CSTF2T	100.00	No comment
CTC1	100.00	No comment
CTCF	100.00	No comment
CTDP1	89.61	No comment
CTNNB1	100.00	No comment
CTNND2	93.57	No comment
CTSA	100.00	No comment
CTSD	99.45	No comment
CTTNBP2	99.32	No comment
CUBN	100.00	No comment
CUL3	100.00	No comment
CUL4B	100.00	No comment
CUL5	100.00	No comment
CUX2	100.00	No comment
CYB5R3	96.25	No comment
CYFIP1	100.00	No comment
CYP27A1	99.68	No comment
D2HGDH	100.00	No comment
DAB1	100.00	No comment
DAG1	100.00	No comment
DAGLA	100.00	No comment
DARS2	100.00	No comment
DBT	100.00	No comment
DCAF17	96.47	No comment
DCLK2	100.00	No comment
DCX	100.00	No comment
DDHD2	100.00	No comment
DDX11	100.00	No comment
DDX3X	100.00	No comment
DEAF1	87.03	No comment
DHCR24	99.96	No comment
DHCR7	100.00	No comment
DHDDS	100.00	No comment
DHFR	99.48	No comment
DHTKD1	99.98	No comment
DHX9	100.00	No comment
DIAPH1	99.15	No comment
DIAPH3	100.00	No comment
DIP2A	99.92	No comment
DIP2B	99.88	No comment
DIPK2A	99.79	No comment
DISC1	86.36	No comment
DKC1	100.00	No comment
DLD	100.00	No comment
DLG2	100.00	No comment
DLG3	99.83	No comment
DLG4	100.00	No comment
DMD	100.00	No comment
DMPK	99.97	No comment
DNAH5	100.00	No comment
DNAJC19	100.00	No comment
DNM1	94.44	No comment
DNMT1	100.00	No comment
DNMT3A	100.00	No comment
DNMT3B	100.00	No comment
DOCK8	99.43	No comment
DPAGT1	100.00	No comment
DPM1	100.00	No comment
DPP6	96.95	No comment
DPYD	100.00	No comment
DSCAM	100.00	No comment
DST	100.00	No comment
DUSP15	83.99	No comment
DYM	100.00	No comment
DYNC1H1	100.00	No comment
DYRK1A	100.00	No comment
GLB1	100.00	No comment
ECM2	100.00	No comment
EFCAB5	97.32	No comment
EFNB1	100.00	No comment
EFTUD2	100.00	No comment
EHMT1	98.85	No comment
EIF2AK3	95.52	No comment
EIF2S3	100.00	No comment
EIF3G	100.00	No comment
EIF4A1	100.00	No comment
EIF4G1	100.00	No comment
ELK1	100.00	No comment
ELOVL4	100.00	No comment
ELP2	100.00	No comment
EML1	97.08	No comment
EMX2	100.00	No comment
EN2	88.10	No comment
EP300	100.00	No comment
EP400	100.00	No comment
EPB41L1	100.00	No comment
EPHA5	99.98	No comment
EPHB2	97.39	No comment
ERBB4	100.00	No comment
ERCC2	100.00	No comment
ERCC3	100.00	No comment
ERCC5	100.00	No comment
ERCC6	100.00	No comment
ERCC8	100.00	No comment
ERLIN2	100.00	No comment
ESCO2	100.00	No comment
ETFB	100.00	No comment
ETHE1	99.88	No comment
EXOSC3	100.00	No comment
EXT1	100.00	No comment
EZH2	100.00	No comment
EZR	100.00	No comment
F5	100.00	No comment
FAAH2	100.00	No comment
HYCC1	100.00	No comment
FANCB	100.00	No comment
FANCD2	100.00	No comment
FANCG	100.00	No comment
FBLN5	100.00	No comment
FBN1	100.00	No comment
FBN2	100.00	No comment
FBXO31	91.75	No comment
FBXO33	90.47	No comment
FEZF2	97.53	No comment
FGD1	99.39	No comment
FGF12	100.00	No comment
FGF14	99.99	No comment
FGFR1	100.00	No comment
FGFR2	100.00	No comment
FGFR3	99.26	No comment
FH	100.00	No comment
FIGN	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNA	100.00	No comment
FLVCR1	100.00	No comment
FMN2	99.94	No comment
FMR1	100.00	No comment
FOLR1	100.00	No comment
FOXG1	85.88	No comment
FOXP1	100.00	No comment
FOXP2	100.00	No comment
FOXP3	100.00	No comment
FRAS1	100.00	No comment
FRMPD4	100.00	No comment
FTCD	98.36	No comment
FTO	100.00	No comment
FTSJ1	100.00	No comment
FUCA1	100.00	No comment
G6PC3	100.00	No comment
GABRA1	100.00	No comment
GABRA5	100.00	No comment
GABRB2	100.00	No comment
GABRB3	99.79	No comment
GABRG2	92.03	No comment
GABRG3	99.96	No comment
GAD1	100.00	No comment
GALE	100.00	No comment
GALK1	99.95	No comment
GALNT18	100.00	No comment
GALT	100.00	No comment
GAMT	98.60	No comment
GAN	99.52	No comment
GARS1	99.53	No comment
GAS2	100.00	No comment
GATAD2B	100.00	No comment
GATM	99.26	No comment
GBA1	100.00	No comment
GBE1	100.00	No comment
GCH1	96.30	No comment
GCK	100.00	No comment
GCOM1	94.20	No comment
GCSH	76.04	No comment
GDI1	100.00	No comment
GFAP	100.00	No comment
GFM1	100.00	No comment
GHR	99.82	No comment
GIGYF1	100.00	No comment
GJB1	99.54	No comment
GJB6	100.00	No comment
GJC2	81.91	No comment
GK	99.94	No comment
GLDC	96.53	No comment
GLI2	95.11	No comment
GLI3	100.00	No comment
GLO1	100.00	No comment
GLRA1	100.00	No comment
GLUL	100.00	No comment
GLYCTK	100.00	No comment
GM2A	100.00	No comment
GMPPA	100.00	No comment
GMPPB	100.00	No comment
GNAO1	100.00	No comment
GNAQ	100.00	No comment
GNAS	98.96	No comment
GNPAT	100.00	No comment
GNPTAB	100.00	No comment
GNPTG	94.69	No comment
GNRHR	100.00	No comment
GNS	100.00	No comment
GORASP2	99.92	No comment
GP1BB	25.16	No comment
GPC3	100.00	No comment
GPHN	100.00	No comment
GPR37	100.00	No comment
GPT2	96.29	No comment
GRIA3	100.00	No comment
GRID2	100.00	No comment
GRIK2	100.00	No comment
GRIN1	99.97	No comment
GRIN2A	100.00	No comment
GRIN2B	100.00	No comment
GRIN3B	86.11	No comment
GRM1	100.00	No comment
GSE1	99.97	No comment
GSPT2	100.00	No comment
GSS	100.00	No comment
GTF2H5	100.00	No comment
GTF2IRD1	100.00	No comment
GTF3C1	100.00	No comment
GUSB	100.00	No comment
GYS2	100.00	No comment
HAL	100.00	No comment
HAX1	100.00	No comment
HCCS	100.00	No comment
HCFC1	100.00	No comment
HCN1	95.88	No comment
HDAC4	100.00	No comment
HDAC6	100.00	No comment
HDAC8	100.00	No comment
HDAC9	100.00	No comment
HECTD1	100.00	No comment
HECW2	100.00	No comment
HEPACAM	96.82	No comment
HERC1	100.00	No comment
HERC2	99.62	No comment
HESX1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.82	No comment
H4C2	100.00	No comment
HIVEP2	100.00	No comment
HLCS	100.00	No comment
HMGA2	81.94	No comment
HNRNPU	99.54	No comment
HNRNPUL1	99.73	No comment
HOXA1	100.00	No comment
HOXB1	100.00	No comment
HOXD10	100.00	No comment
HPD	100.00	No comment
HPRT1	94.60	No comment
HRAS	100.00	No comment
HSD17B10	100.00	No comment
HSPA4	100.00	No comment
HSPD1	99.53	No comment
HTR2A	100.00	No comment
HUWE1	100.00	No comment
IDH2	92.01	No comment
IDS	100.00	No comment
IDUA	88.67	No comment
IER3IP1	99.93	No comment
IFT172	100.00	No comment
IGBP1	100.00	No comment
IGF1	100.00	No comment
IGF1R	100.00	No comment
IKBKG	99.74	No comment
IL1RAPL1	100.00	No comment
ILF2	100.00	No comment
INPP5E	99.54	No comment
INSR	97.31	No comment
IQSEC2	99.73	No comment
IRS1	100.00	No comment
IRX5	94.92	No comment
ITGA7	100.00	No comment
ITGB3	97.94	No comment
ITPR1	100.00	No comment
JADE2	100.00	No comment
JAG1	99.66	No comment
JAM3	100.00	No comment
JUP	100.00	No comment
KANK1	100.00	No comment
KANSL1	100.00	No comment
KAT6A	100.00	No comment
KAT6B	100.00	No comment
KATNAL2	100.00	No comment
KCNA1	100.00	No comment
KCNH1	100.00	No comment
KCNJ10	100.00	No comment
KCNJ11	100.00	No comment
KCNK9	100.00	No comment
KCNMA1	99.94	No comment
KCNQ2	99.98	No comment
KCNQ3	96.44	No comment
KCNQ4	92.42	No comment
KCNT1	99.74	No comment
KCTD7	97.35	No comment
KDM5A	100.00	No comment
KDM5B	100.00	No comment
KDM5C	100.00	No comment
KDM6A	100.00	No comment
KDM6B	99.91	No comment
BLTP1	100.00	No comment
KIF11	100.00	No comment
KIF1A	99.90	No comment
KIFBP	100.00	No comment
KIF21A	99.23	No comment
KIF2A	98.88	No comment
KIF4A	100.00	No comment
KIF5A	100.00	No comment
KIF5C	100.00	No comment
KIF7	96.94	No comment
KIRREL3	100.00	No comment
KIT	100.00	No comment
KLC2	100.00	No comment
KLF8	100.00	No comment
KMT2A	98.66	No comment
KMT2C	100.00	No comment
KMT2D	100.00	No comment
KMT2E	100.00	No comment
KMT5B	100.00	No comment
KPTN	100.00	No comment
KRAS	100.00	No comment
KRBOX4	100.00	No comment
KRT24	100.00	No comment
L1CAM	100.00	No comment
L2HGDH	99.96	No comment
LAMA1	99.93	No comment
LAMA2	100.00	No comment
LAMB1	100.00	No comment
LAMC3	97.51	No comment
LAMP2	100.00	No comment
LARGE1	100.00	No comment
LARP7	100.00	No comment
LAS1L	100.00	No comment
LBR	100.00	No comment
LCT	100.00	No comment
LHX3	94.36	No comment
LIG4	100.00	No comment
LINS1	100.00	No comment
LMBRD1	100.00	No comment
LRP1	100.00	No comment
LRP2	99.96	No comment
LRP5	97.87	No comment
LRPPRC	99.14	No comment
LRRC7	100.00	No comment
LYST	100.00	No comment
MACF1	100.00	No comment
MAGEL2	99.43	No comment
MAGT1	100.00	No comment
MAN1B1	99.99	No comment
MAN2B1	100.00	No comment
MANBA	99.97	No comment
MAOA	99.95	No comment
MAP2	100.00	No comment
MAP2K1	100.00	No comment
MAP2K2	99.98	No comment
MAPK1	93.93	No comment
MAPT	100.00	No comment
MAT1A	100.00	No comment
MBD3	99.22	No comment
MBD5	100.00	No comment
MBTPS2	100.00	No comment
MCCC1	100.00	No comment
MCCC2	99.99	No comment
MCOLN1	97.27	No comment
MCPH1	100.00	No comment
MDM2	100.00	No comment
MECP2	98.28	No comment
MED12	99.96	No comment
MED13L	100.00	No comment
MED17	100.00	No comment
MED23	100.00	No comment
MEF2C	100.00	No comment
MET	100.00	No comment
METTL23	100.00	No comment
MFRP	100.00	No comment
MFSD8	100.00	No comment
MGAT2	100.00	No comment
MIB1	100.00	No comment
MID1	100.00	No comment
MID2	100.00	No comment
MIR222	100.00	No comment
MKKS	100.00	No comment
MLH1	100.00	No comment
MLYCD	85.50	No comment
MMAA	100.00	No comment
MMACHC	100.00	No comment
MMADHC	100.00	No comment
MMUT	100.00	No comment
MOCS1	99.95	No comment
MOCS2	100.00	No comment
MOGS	98.73	No comment
MPDU1	100.00	No comment
MPDZ	100.00	No comment
MPHOSPH8	100.00	No comment
MPI	100.00	No comment
MPLKIP	100.00	No comment
MPZ	100.00	No comment
MRAP	100.00	No comment
MRPS22	100.00	No comment
MSH6	100.00	No comment
MTFMT	99.11	No comment
MTHFR	100.00	No comment
MTHFS	99.64	No comment
MTM1	100.00	No comment
MTMR2	100.00	No comment
MTR	100.00	No comment
MTRR	100.00	No comment
MVK	100.00	No comment
MYCN	86.70	No comment
MYH7B	100.00	No comment
MYH9	100.00	No comment
MYO1E	99.92	No comment
MYO3A	100.00	No comment
MYO5A	99.60	No comment
MYO7A	100.00	No comment
MYOC	100.00	No comment
MYT1L	100.00	No comment
NAA10	96.03	No comment
NAA15	100.00	No comment
NAGA	100.00	No comment
NAGLU	87.38	No comment
NALCN	100.00	No comment
NBN	100.00	No comment
NCKAP1	100.00	No comment
NDE1	100.00	No comment
NDP	100.00	No comment
NDST1	100.00	No comment
NDUFA1	100.00	No comment
NDUFA11	98.06	No comment
NDUFA12	100.00	No comment
NDUFAF5	100.00	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	100.00	No comment
NDUFS7	99.49	No comment
NDUFS8	100.00	No comment
NDUFV1	100.00	No comment
NECTIN1	100.00	No comment
NEDD4L	100.00	No comment
NEU1	100.00	No comment
NEXMIF	100.00	No comment
NF1	99.95	No comment
NFATC1	99.84	No comment
NFIA	100.00	No comment
NFIX	97.15	No comment
NGF	100.00	No comment
NHEJ1	100.00	No comment
NHP2	100.00	No comment
NHS	93.25	No comment
NIPBL	99.98	No comment
NKX2-1	92.46	No comment
NLGN1	100.00	No comment
NLGN3	100.00	No comment
NLGN4X	100.00	No comment
NLGN4Y	55.32	No comment
NOG	100.00	No comment
NOTCH3	92.99	No comment
NPC1	98.40	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NPHP3	99.87	No comment
NR2F1	92.00	No comment
NR3C2	100.00	No comment
NR4A2	100.00	No comment
NRAS	100.00	No comment
NRCAM	100.00	No comment
NRXN1	98.52	No comment
NRXN2	88.11	No comment
NSD1	100.00	No comment
NSD2	100.00	No comment
NSDHL	100.00	No comment
NSUN2	99.70	No comment
NTRK1	98.72	No comment
NTRK2	100.00	No comment
NUAK1	99.97	No comment
NUS1	100.00	No comment
NXF5	100.00	No comment
OBSL1	98.31	No comment
OCA2	100.00	No comment
OCLN	100.00	No comment
OCRL	99.77	No comment
OFD1	99.88	No comment
OPHN1	100.00	No comment
SLC25A15	100.00	No comment
OTC	100.00	No comment
OXTR	91.19	No comment
PACS1	96.93	No comment
PAFAH1B1	100.00	No comment
PAH	99.94	No comment
PAK3	100.00	No comment
PANK2	98.60	No comment
PARP1	100.00	No comment
PAX1	89.02	No comment
PAX5	100.00	No comment
PAX6	100.00	No comment
PAX8	100.00	No comment
PBRM1	100.00	No comment
PODXL	100.00	No comment
PCDH10	100.00	No comment
PCDH19	99.91	No comment
PCGF2	100.00	No comment
PCNT	100.00	No comment
PDE1C	100.00	No comment
PDE4D	98.77	No comment
PDE8B	96.32	No comment
PDHA1	98.17	No comment
PDHX	99.87	No comment
PDSS1	86.24	No comment
PDSS2	100.00	No comment
PEPD	99.77	No comment
PER2	100.00	No comment
PEX1	100.00	No comment
PEX10	88.47	No comment
PEX11B	100.00	No comment
PEX12	100.00	No comment
PEX13	100.00	No comment
PEX16	100.00	No comment
PEX19	100.00	No comment
PEX2	100.00	No comment
PEX26	100.00	No comment
PEX3	100.00	No comment
PEX5	100.00	No comment
PEX6	98.56	No comment
PEX7	91.13	No comment
PGA5	100.00	No comment
PGAP1	100.00	No comment
PGAP2	100.00	No comment
PGAP3	99.90	No comment
PGK1	100.00	No comment
PHF2	99.71	No comment
PHF21A	100.00	No comment
PHF6	100.00	No comment
PHF8	100.00	No comment
PHGDH	100.00	No comment
PHIP	99.09	No comment
PHKA2	100.00	No comment
PHKG2	100.00	No comment
PIAS1	100.00	No comment
PIGA	100.00	No comment
PIGL	100.00	No comment
PIGN	100.00	No comment
PIGO	100.00	No comment
PIGT	100.00	No comment
PIGV	100.00	No comment
PIK3R2	89.19	No comment
PLA2G6	100.00	No comment
PLCB1	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PNKP	100.00	No comment
PNP	100.00	No comment
POC1A	99.95	No comment
POGZ	100.00	No comment
POLG	100.00	No comment
POLR2M	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMGNT1	100.00	No comment
POMGNT2	100.00	No comment
POMT1	100.00	No comment
POMT2	99.90	No comment
PORCN	100.00	No comment
POT1	100.00	No comment
POU1F1	100.00	No comment
POU3F4	100.00	No comment
PPM1D	100.00	No comment
HCRT	100.00	No comment
PPP1R1B	100.00	No comment
PPP2R1A	100.00	No comment
PPP2R5D	100.00	No comment
PPT1	100.00	No comment
PQBP1	100.00	No comment
PRICKLE1	100.00	No comment
PRKAR1A	100.00	No comment
PRKRA	90.07	No comment
PRODH	86.43	No comment
PRPS1	100.00	No comment
PRRT2	100.00	No comment
PRSS12	99.65	No comment
PSAP	100.00	No comment
PSEN1	100.00	No comment
PTCH1	98.48	No comment
PTCHD1	99.99	No comment
PTDSS1	100.00	No comment
PTEN	98.86	No comment
PTHLH	100.00	No comment
PTPN11	98.80	No comment
PUF60	99.86	No comment
PURA	85.32	No comment
PUS1	99.08	No comment
PYCR1	100.00	No comment
PYGL	100.00	No comment
RAB11A	100.00	No comment
RAB18	100.00	No comment
RAB27A	100.00	No comment
RAB39B	100.00	No comment
RAB3GAP1	100.00	No comment
RAB3GAP2	100.00	No comment
RAB40AL	100.00	No comment
RABL6	99.93	No comment
RAC1	93.90	No comment
RAD21	100.00	No comment
RAF1	100.00	No comment
RAI1	96.06	No comment
RALGDS	94.60	No comment
RANBP17	98.90	No comment
RAPSN	100.00	No comment
RARS2	100.00	No comment
RASGEF1B	100.00	No comment
RBBP8	100.00	No comment
RBFOX1	99.94	No comment
RBL2	99.65	No comment
RBM10	100.00	No comment
RBM28	99.99	No comment
RELN	99.96	No comment
RERE	99.97	No comment
RFT1	100.00	No comment
RFX3	100.00	No comment
RFX6	100.00	No comment
RIC8A	100.00	No comment
RIMS1	99.79	No comment
RIT1	100.00	No comment
RMND1	100.00	No comment
RMRP	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2B	95.67	No comment
RNASEH2C	100.00	No comment
RNASET2	99.98	No comment
RNF213	100.00	No comment
ROGDI	91.80	No comment
RP2	100.00	No comment
RPGRIP1L	96.45	No comment
RPL15	100.00	No comment
RPS6KA2	98.15	No comment
RPS6KA3	98.71	No comment
RTEL1	100.00	No comment
RTN2	99.98	No comment
RUBCN	97.68	No comment
RUNX1	99.96	No comment
RUVBL1	100.00	No comment
RYR1	98.38	No comment
RYR2	100.00	No comment
S100G	100.00	No comment
SACS	99.97	No comment
SALL1	100.00	No comment
SAMHD1	100.00	No comment
SARS2	100.00	No comment
SATB2	100.00	No comment
SBF1	98.81	No comment
SC5D	100.00	No comment
SCAPER	100.00	No comment
SCN1A	100.00	No comment
SCN2A	100.00	No comment
SCN7A	100.00	No comment
SCN8A	100.00	No comment
SCN9A	100.00	No comment
SCO2	100.00	No comment
SDCCAG8	100.00	No comment
SDHA	98.02	No comment
SDK1	95.93	No comment
SERAC1	100.00	No comment
SERPINB12	100.00	No comment
SETBP1	99.99	No comment
SETD5	100.00	No comment
NR5A1	86.69	No comment
SFPQ	98.66	No comment
SGCA	100.00	No comment
SGSH	99.99	No comment
SHANK1	96.45	No comment
SHANK2	100.00	No comment
SHANK3	83.99	No comment
SHH	92.83	No comment
SHOC2	100.00	No comment
SHOX	90.47	No comment
SHROOM4	100.00	No comment
SIL1	100.00	No comment
SIN3A	99.82	No comment
SIX3	99.59	No comment
HHAT	90.28	No comment
SLC12A6	100.00	No comment
SLC16A2	100.00	No comment
SLC17A5	100.00	No comment
SLC1A1	100.00	No comment
SLC1A4	97.95	No comment
SLC20A2	100.00	No comment
SLC24A2	100.00	No comment
SLC25A1	93.77	No comment
SLC25A12	100.00	No comment
SLC25A13	99.94	No comment
SLC25A22	100.00	No comment
SLC25A24	99.82	No comment
SLC26A9	100.00	No comment
SLC2A1	99.94	No comment
SLC2A2	100.00	No comment
SLC33A1	100.00	No comment
SLC35A2	100.00	No comment
SLC35C1	100.00	No comment
SLC46A1	99.95	No comment
SLC4A4	100.00	No comment
SLC5A2	100.00	No comment
SLC5A5	100.00	No comment
SLC6A1	100.00	No comment
SLC6A17	100.00	No comment
SLC6A3	100.00	No comment
SLC6A4	100.00	No comment
SLC6A8	98.78	No comment
SLC7A7	100.00	No comment
SLC9A6	99.96	No comment
SLC9A9	100.00	No comment
SLCO1B1	100.00	No comment
SLCO1B3	100.00	No comment
SLX4	100.00	No comment
SMAD2	100.00	No comment
SMAD4	100.00	No comment
SMARCA2	98.07	No comment
SMARCA4	100.00	No comment
SMARCB1	100.00	No comment
SMARCC2	100.00	No comment
SMARCE1	100.00	No comment
SMC1A	100.00	No comment
SMC3	100.00	No comment
SMG6	97.90	No comment
SMOC1	99.36	No comment
SMPD1	100.00	No comment
SNAP29	100.00	No comment
SNIP1	100.00	No comment
SNX14	100.00	No comment
SNX19	100.00	No comment
SOBP	87.96	No comment
SOS1	100.00	No comment
SOX10	96.79	No comment
SOX11	99.01	No comment
SOX2	98.05	No comment
SOX3	85.62	No comment
SOX5	100.00	No comment
SPAST	100.00	No comment
SPG11	100.00	No comment
SPG7	96.56	No comment
SPR	96.81	No comment
SPRED1	100.00	No comment
SPTAN1	100.00	No comment
SPTLC1	99.99	No comment
SRCAP	100.00	No comment
SRD5A3	99.42	No comment
SREBF2	100.00	No comment
SRGAP3	100.00	No comment
SRPX2	100.00	No comment
ST3GAL3	100.00	No comment
ST3GAL5	92.64	No comment
STAG1	100.00	No comment
STAT5B	100.00	No comment
STIL	100.00	No comment
STRA6	100.00	No comment
STS	100.00	No comment
STT3A	100.00	No comment
STT3B	99.25	No comment
STX11	100.00	No comment
STXBP1	100.00	No comment
STXBP5	100.00	No comment
SUCLA2	100.00	No comment
SUCLG1	95.74	No comment
SUOX	100.00	No comment
SUPT16H	100.00	No comment
SURF1	87.74	No comment
SYN1	95.92	No comment
SYNE1	100.00	No comment
SYNGAP1	100.00	No comment
SYP	99.27	No comment
SYT14	93.04	No comment
SYT3	100.00	No comment
TAF1	100.00	No comment
TAF2	100.00	No comment
TAT	100.00	No comment
TBC1D24	100.00	No comment
TBC1D7	100.00	No comment
TBCE	100.00	No comment
TBR1	94.13	No comment
TBX1	77.39	No comment
TCF20	100.00	No comment
TCF3	100.00	No comment
TCF4	100.00	No comment
TCF7L2	99.98	No comment
TECR	100.00	No comment
TENM1	100.00	No comment
TFAP2A	100.00	No comment
TGFBR1	92.91	No comment
TGFBR2	100.00	No comment
TGIF1	100.00	No comment
TGM1	100.00	No comment
TH	99.95	No comment
THOC2	99.99	No comment
THOC6	100.00	No comment
THRA	100.00	No comment
THRB	100.00	No comment
TIMM8A	100.00	No comment
TINF2	100.00	No comment
TMCO1	100.00	No comment
TMEM107	100.00	No comment
TMEM135	100.00	No comment
TMEM165	89.91	No comment
TMEM216	100.00	No comment
TMEM231	100.00	No comment
TMEM237	99.97	No comment
TMEM67	100.00	No comment
TMEM70	100.00	No comment
TMLHE	100.00	No comment
TNK2	100.00	No comment
TNRC6B	100.00	No comment
TOPORS	100.00	No comment
TOR1A	99.99	No comment
TDO2	100.00	No comment
TPK1	100.00	No comment
THPO	99.84	No comment
ACD	100.00	No comment
TRAPPC10	99.93	No comment
TRAPPC11	100.00	No comment
TRAPPC9	99.98	No comment
TREX1	100.00	No comment
TRHR	100.00	No comment
TRIM10	100.00	No comment
TRIM3	100.00	No comment
TRIM32	100.00	No comment
TRIO	97.46	No comment
TRIP12	100.00	No comment
TRMT1	100.00	No comment
TRMT10A	100.00	No comment
TRPM6	100.00	No comment
TRPV4	100.00	No comment
TSC1	100.00	No comment
TSC2	100.00	No comment
TSEN54	94.23	No comment
TSHR	100.00	No comment
TSPAN7	99.99	No comment
TSPOAP1	99.98	No comment
SKIC3	100.00	No comment
TTC8	100.00	No comment
TTI1	100.00	No comment
TTI2	100.00	No comment
TTR	100.00	No comment
TUBA1A	100.00	No comment
TUBA8	100.00	No comment
TUBB2B	100.00	No comment
TUBB3	98.24	No comment
TUBGCP6	100.00	No comment
TUSC3	100.00	No comment
TWIST1	70.93	No comment
UBE2A	99.62	No comment
UBE3A	100.00	No comment
UBE3B	100.00	No comment
UBR1	100.00	No comment
UBTF	100.00	No comment
UPB1	100.00	No comment
UPF3B	100.00	No comment
UROC1	100.00	No comment
USP9X	100.00	No comment
UTP6	100.00	No comment
VCP	98.45	No comment
VLDLR	96.53	No comment
VPS13B	99.25	No comment
VPS39	100.00	No comment
VPS4A	100.00	No comment
VRK1	100.00	No comment
WAC	100.00	No comment
WASHC4	99.72	No comment
WDFY3	100.00	No comment
WDR11	100.00	No comment
WDR13	100.00	No comment
WDR19	100.00	No comment
WDR26	100.00	No comment
WDR45	100.00	No comment
WDR45B	100.00	No comment
WDR62	100.00	No comment
WDR81	99.97	No comment
WNT2	100.00	No comment
WRN	100.00	No comment
WWOX	100.00	No comment
XPA	99.35	No comment
XPNPEP3	93.18	No comment
XPO5	100.00	No comment
XYLT1	88.83	No comment
YAP1	96.50	No comment
YEATS2	100.00	No comment
YWHAE	98.69	No comment
YY1	99.92	No comment
ZBTB16	100.00	No comment
ZBTB18	100.00	No comment
ZBTB20	100.00	No comment
ZBTB24	100.00	No comment
ZC3H14	100.00	No comment
ZC3H4	99.94	No comment
ZCCHC12	100.00	No comment
ZDHHC15	100.00	No comment
ZDHHC9	100.00	No comment
ZEB2	100.00	No comment
ZFHX4	100.00	No comment
ZFP57	100.00	No comment
ZFYVE26	100.00	No comment
ZIC2	80.54	No comment
ZMYM3	100.00	No comment
ZMYND11	100.00	No comment
ZNF292	100.00	No comment
ZNF407	100.00	No comment
ZNF41	100.00	No comment
ZNF526	100.00	No comment
ZNF559	100.00	No comment
ZNF592	100.00	No comment
ZNF594	100.00	No comment
ZNF599	100.00	No comment
ZNF674	100.00	No comment
ZNF697	95.04	No comment
ZNF711	100.00	No comment
ZNF774	100.00	No comment
ZNF8	100.00	No comment
ZNF81	100.00	No comment
ZNF827	100.00	No comment

Neuromuscular disorders (548 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	No comment
ABCD1	97.56	No comment
ABHD12	88.30	No comment
ABHD5	99.85	No comment
ACAD9	100.00	No comment
ACADL	98.57	No comment
ACADM	99.87	No comment
ACADS	97.51	No comment
ACADVL	98.04	No comment
ACTA1	99.79	No comment
ACVR1	100.00	No comment
ADAR	100.00	No comment
ADSS1	99.98	No comment
AFG3L2	94.80	No comment
AGK	100.00	No comment
AGL	100.00	No comment
AGRN	96.53	No comment
AIFM1	99.98	No comment
AIMP1	99.97	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.94	No comment
ALDOA	100.00	No comment
ALG13	99.53	No comment
ALG14	100.00	No comment
ALG2	99.83	No comment
ALS2	100.00	No comment
AMPD1	100.00	No comment
AMPD2	99.90	No comment
ANG	100.00	No comment
ANO5	100.00	No comment
ANXA11	99.99	No comment
AP4B1	100.00	No comment
AP4E1	99.99	No comment
AP4M1	100.00	No comment
AP4S1	100.00	No comment
AP5Z1	99.25	No comment
APTX	99.96	No comment
AR	100.00	No comment
ARG1	100.00	No comment
ARHGEF10	99.98	No comment
ARHGEF28	99.05	No comment
ARL6IP1	100.00	No comment
ARSI	99.82	No comment
ASAH1	100.00	No comment
ASCC1	91.30	No comment
ATL1	99.89	No comment
ATL3	99.93	No comment
ATM	100.00	No comment
ATP13A2	98.30	No comment
ATP1A1	100.00	No comment
ATP2A1	100.00	No comment
ATP7A	100.00	No comment
ATXN2	93.25	No comment
AUH	99.24	No comment
B3GALNT2	92.96	No comment
B4GAT1	99.99	No comment
B4GALNT1	99.99	No comment
BAG3	100.00	No comment
BCS1L	100.00	No comment
BICD2	100.00	No comment
BIN1	99.94	No comment
BSCL2	100.00	No comment
BVES	100.00	No comment
TWNK	100.00	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
C1QBP	99.47	No comment
C9ORF72	99.96	No comment
CACNA1A	99.53	No comment
CACNA1S	100.00	No comment
CAPN1	99.97	No comment
CAPN3	99.99	No comment
CASQ1	100.00	No comment
CAV3	100.00	No comment
CCDC78	100.00	No comment
CCT5	99.92	No comment
CFL2	100.00	No comment
CHAT	99.97	No comment
CHCHD10	99.66	No comment
CHKB	99.75	No comment
CHMP2B	100.00	No comment
CHRNA1	99.99	No comment
CHRNB1	99.95	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	99.87	No comment
CHST14	99.50	No comment
CLCN1	100.00	No comment
CLN3	100.00	No comment
CLN8	100.00	No comment
CLTCL1	99.04	No comment
CNBP	100.00	No comment
CNTN1	100.00	No comment
CNTNAP1	100.00	No comment
COL12A1	100.00	No comment
COL13A1	99.52	No comment
COL6A1	99.90	No comment
COL6A2	99.98	No comment
COL6A3	100.00	No comment
COLQ	100.00	No comment
COQ9	100.00	No comment
COX10	100.00	No comment
COX15	99.99	No comment
COX20	100.00	No comment
COX6A1	100.00	No comment
COX6B1	100.00	No comment
COX8A	100.00	No comment
CPT1C	100.00	No comment
CPT2	98.55	No comment
CRYAB	100.00	No comment
CSF1R	99.99	No comment
CTDP1	100.00	No comment
CYP27A1	99.38	No comment
CYP2U1	93.20	No comment
CYP7B1	95.41	No comment
DAG1	100.00	No comment
DARS2	100.00	No comment
DCAF8	100.00	No comment
DCTN1	100.00	No comment
DDHD1	99.58	No comment
DDHD2	100.00	No comment
DES	100.00	No comment
DGAT2	100.00	No comment
DGUOK	100.00	No comment
DHTKD1	99.54	No comment
DMD	99.96	No comment
DMPK	99.91	No comment
DMXL2	100.00	No comment
DNAJB2	100.00	No comment
DNAJB6	91.94	No comment
DNM2	99.84	No comment
DNMT1	99.54	No comment
DOK7	97.44	No comment
DOLK	100.00	No comment
DPAGT1	100.00	No comment
DPM1	100.00	No comment
DPM2	100.00	No comment
DPM3	100.00	No comment
DST	100.00	No comment
DYNC1H1	99.92	No comment
DYSF	99.72	No comment
ECEL1	99.80	No comment
EGR2	100.00	No comment
ELOVL4	100.00	No comment
EMD	98.97	No comment
ENO3	100.00	No comment
ENTPD1	100.00	No comment
ERBB3	100.00	No comment
ERBB4	100.00	No comment
ERCC2	98.91	No comment
ERLIN1	100.00	No comment
ERLIN2	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
EXOSC8	100.00	No comment
FA2H	95.71	No comment
FAM111B	100.00	No comment
HYCC1	100.00	No comment
RETREG1	93.72	No comment
FARS2	100.00	No comment
FASTKD2	100.00	No comment
FBLN5	100.00	No comment
FBN2	100.00	No comment
FBXL4	100.00	No comment
FBXO38	100.00	No comment
FBXO7	99.78	No comment
FDX2	100.00	No comment
FGD4	99.98	No comment
CFH	100.00	No comment
FIG4	100.00	No comment
FKRP	100.00	No comment
FKTN	100.00	No comment
FLAD1	100.00	No comment
FLNC	100.00	No comment
FLRT1	100.00	No comment
FLVCR1	100.00	No comment
FOXRED1	100.00	No comment
FUS	100.00	No comment
FXN	94.27	No comment
GAA	100.00	No comment
GABRA3	99.59	No comment
GAD1	100.00	No comment
GALC	98.98	No comment
GAN	98.52	No comment
GARS1	97.89	No comment
GART	99.99	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCH1	99.71	No comment
GDAP1	100.00	No comment
GFAP	100.00	No comment
GFER	99.09	No comment
GFPT1	99.94	No comment
GGPS1	100.00	No comment
GJB1	100.00	No comment
GJB3	100.00	No comment
GJC2	96.72	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GLE1	100.00	No comment
GLI3	100.00	No comment
GLTP	100.00	No comment
GMPPB	100.00	No comment
GNB4	100.00	No comment
GNE	100.00	No comment
GOLGA2	95.41	No comment
GOSR2	100.00	No comment
GSN	97.80	No comment
GYG1	94.40	No comment
GYS1	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HARS1	99.73	No comment
HEPACAM	99.85	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HINT1	100.00	No comment
HK1	100.00	No comment
HNRNPA1	97.19	No comment
HNRNPA2B1	100.00	No comment
HNRNPDL	99.98	No comment
HOXD10	100.00	No comment
HRAS	100.00	No comment
HSD17B4	100.00	No comment
HSPB1	100.00	No comment
HSPB3	100.00	No comment
HSPB8	100.00	No comment
HSPD1	95.18	No comment
HSPG2	99.19	No comment
IBA57	92.01	No comment
IFIH1	100.00	No comment
IFRD1	98.86	No comment
IGHMBP2	99.38	No comment
ELP1	100.00	No comment
INF2	99.92	No comment
INPP5K	99.31	No comment
ISCU	98.41	No comment
CRPPA	95.50	No comment
ITGA7	100.00	No comment
KARS1	100.00	No comment
KBTBD13	99.16	No comment
KCNA1	100.00	No comment
KCNE1	100.00	No comment
KCNE2	100.00	No comment
KCNE3	100.00	No comment
KCNH2	98.15	No comment
KCNJ12	100.00	No comment
KCNJ2	100.00	No comment
KCNQ1	100.00	No comment
WASHC5	100.00	No comment
KIF1A	98.74	No comment
KIF1B	99.84	No comment
KIF1C	100.00	No comment
KIF21A	98.54	No comment
KIF5A	100.00	No comment
KLC4	99.99	No comment
KLHL40	100.00	No comment
KLHL41	100.00	No comment
KLHL9	100.00	No comment
KY	100.00	No comment
L1CAM	99.98	No comment
LAMA2	100.00	No comment
LAMA5	98.39	No comment
LAMB2	100.00	No comment
LAMP2	99.60	No comment
LARGE1	100.00	No comment
LDB3	100.00	No comment
LDHA	99.42	No comment
LGI4	100.00	No comment
LIMS2	91.30	No comment
LITAF	100.00	No comment
LMNA	99.28	No comment
LMOD3	100.00	No comment
LPIN1	99.97	No comment
CORIN	99.01	No comment
LRPPRC	98.80	No comment
LRSAM1	99.33	No comment
MARS1	100.00	No comment
MATR3	100.00	No comment
MB	100.00	No comment
MED25	100.00	No comment
MEGF10	99.99	No comment
MFN2	100.00	No comment
MLC1	98.57	No comment
MAP3K20	100.00	No comment
MARS2	100.00	No comment
MME	100.00	No comment
MORC2	100.00	No comment
MPV17	100.00	No comment
MPZ	99.80	No comment
MSTN	100.00	No comment
MTM1	99.91	No comment
MTMR14	99.92	No comment
MTMR2	99.55	No comment
MTPAP	99.98	No comment
MUSK	100.00	No comment
MYBPC1	100.00	No comment
MYBPC3	100.00	No comment
MYH7B	99.85	No comment
MYH2	100.00	No comment
MYH3	100.00	No comment
MYH4	100.00	No comment
MYH7	100.00	No comment
MYH8	100.00	No comment
MYL1	100.00	No comment
MYO18B	99.80	No comment
MYO9A	99.74	No comment
MYOT	100.00	No comment
MYPN	99.97	No comment
NAGLU	96.69	No comment
NDRG1	100.00	No comment
NDUFA1	100.00	No comment
NDUFA10	96.45	No comment
NDUFA11	100.00	No comment
NDUFA12	100.00	No comment
NDUFA2	100.00	No comment
NDUFA3	100.00	No comment
NDUFA9	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF5	99.96	No comment
NDUFAF6	95.61	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	99.96	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NDUFV2	100.00	No comment
NEB	100.00	No comment
NEFH	81.41	No comment
NEFL	100.00	No comment
NEK1	99.98	No comment
NGF	100.00	No comment
NIPA1	92.99	No comment
NT5C2	100.00	No comment
NTRK1	98.36	No comment
NUBPL	99.92	No comment
MED12	99.98	No comment
OPA3	100.00	No comment
OPTN	100.00	No comment
ORAI1	92.14	No comment
P4HA1	100.00	No comment
PABPN1	100.00	No comment
PANK2	100.00	No comment
PDHA1	92.64	No comment
PDK3	97.80	No comment
PDYN	100.00	No comment
PET100	100.00	No comment
PEX1	100.00	No comment
PEX7	95.60	No comment
PFKM	100.00	No comment
PFN1	100.00	No comment
PGAM2	99.97	No comment
PGAP1	100.00	No comment
PGK1	99.88	No comment
PGM1	100.00	No comment
PHKA1	99.99	No comment
PHKB	99.97	No comment
PHOX2A	96.24	No comment
PHYH	99.81	No comment
PIEZO2	100.00	No comment
PIP5K1C	94.98	No comment
PLA2G6	100.00	No comment
PLEC	99.26	No comment
PLEKHG5	100.00	No comment
PLP1	100.00	No comment
PMP2	100.00	No comment
PMP22	100.00	No comment
PNKP	99.84	No comment
PNPLA2	98.21	No comment
PNPLA6	99.95	No comment
PNPLA8	100.00	No comment
POGLUT1	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMGNT1	100.00	No comment
POMGNT2	100.00	No comment
POMK	100.00	No comment
POMT1	100.00	No comment
POMT2	99.53	No comment
PPP2R2B	100.00	No comment
PRDM12	81.28	No comment
PREPL	99.98	No comment
PRKAG2	95.75	No comment
PRNP	99.92	No comment
PRPH	99.62	No comment
PRPS1	99.91	No comment
PRUNE1	100.00	No comment
PRX	99.89	No comment
PSEN1	100.00	No comment
HACD1	94.60	No comment
CAVIN1	100.00	No comment
PTRH2	99.91	No comment
PUS1	100.00	No comment
PYGM	100.00	No comment
PYROXD1	99.99	No comment
RAB3GAP2	100.00	No comment
RAB7A	100.00	No comment
RAPSN	100.00	No comment
RBCK1	99.76	No comment
RBM7	100.00	No comment
REEP1	100.00	No comment
REEP2	97.04	No comment
RNASEH2B	94.58	No comment
RNASET2	100.00	No comment
RRM2B	100.00	No comment
RTN2	99.44	No comment
RYR1	99.39	No comment
RYR3	100.00	No comment
SACS	99.95	No comment
SBF1	98.38	No comment
SBF2	99.92	No comment
SCN10A	100.00	No comment
SCN11A	99.98	No comment
SCN4A	100.00	No comment
SCN5A	100.00	No comment
SCN9A	99.99	No comment
SCO1	100.00	No comment
SCO2	93.85	No comment
SELENON	84.10	No comment
SEPTIN9	99.38	No comment
SETX	100.00	No comment
SGCA	100.00	No comment
SGCB	91.50	No comment
SGCD	100.00	No comment
SGCE	93.30	No comment
SGCG	100.00	No comment
SGPL1	100.00	No comment
SH3TC2	100.00	No comment
SIGMAR1	92.51	No comment
SIL1	99.95	No comment
SLC12A6	100.00	No comment
SLC16A1	100.00	No comment
SLC16A2	99.97	No comment
SLC18A3	100.00	No comment
SLC22A5	100.00	No comment
SLC25A15	100.00	No comment
SLC25A20	100.00	No comment
SLC25A4	99.81	No comment
SLC25A42	99.60	No comment
SLC25A46	100.00	No comment
SLC2A1	100.00	No comment
SLC33A1	100.00	No comment
SLC52A2	100.00	No comment
SLC52A3	99.86	No comment
SLC5A7	100.00	No comment
SMCHD1	100.00	No comment
SMN1	100.00	No comment
SNAP25	100.00	No comment
SOD1	100.00	No comment
SOX10	95.36	No comment
SPAST	99.83	No comment
SPEG	98.78	No comment
SPG11	100.00	No comment
SPART	100.00	No comment
SPG21	100.00	No comment
SPG7	95.78	No comment
SPR	99.98	No comment
SPTBN4	98.07	No comment
SPTLC1	99.27	No comment
SPTLC2	96.43	No comment
SQSTM1	94.05	No comment
SRPK3	98.13	No comment
STAC3	100.00	No comment
STIM1	100.00	No comment
SUCLA2	99.86	No comment
SUCLG1	93.27	No comment
SUN1	100.00	No comment
SURF1	100.00	No comment
SYNE1	100.00	No comment
SYNE2	100.00	No comment
SYT2	99.96	No comment
TACO1	99.66	No comment
TANGO2	99.94	No comment
TARDBP	100.00	No comment
TARS2	100.00	No comment
WWTR1	97.30	No comment
TBCE	100.00	No comment
TBK1	99.99	No comment
TCAP	100.00	No comment
TDP1	100.00	No comment
TECPR2	99.92	No comment
TFG	99.98	No comment
TGM6	100.00	No comment
TH	98.79	No comment
TIA1	100.00	No comment
TK2	100.00	No comment
TMEM43	100.00	No comment
RXYLT1	100.00	No comment
TMEM65	90.50	No comment
MYMK	100.00	No comment
TNNI2	100.00	No comment
TNNT1	94.05	No comment
TNNT3	100.00	No comment
TNPO3	100.00	No comment
TOR1A	99.70	No comment
TOR1AIP1	100.00	No comment
TPI1	99.90	No comment
TPM2	100.00	No comment
TPM3	98.74	No comment
TRAPPC11	99.97	No comment
TRIM2	100.00	No comment
TRIM32	100.00	No comment
TRIM54	96.63	No comment
TRIM63	100.00	No comment
TRIP4	100.00	No comment
TRMT5	100.00	No comment
TRPV4	100.00	No comment
TSFM	86.80	No comment
TTBK2	100.00	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TUBA4A	100.00	No comment
TUBB3	99.01	No comment
TUBB4A	100.00	No comment
TYMP	100.00	No comment
UBA1	100.00	No comment
UBQLN2	99.30	No comment
UNC13A	99.74	No comment
USP8	100.00	No comment
VAMP1	100.00	No comment
VAPB	99.77	No comment
VARS2	100.00	No comment
VCP	97.10	No comment
VMA21	77.99	No comment
VPS33B	100.00	No comment
VPS37A	99.28	No comment
VRK1	100.00	No comment
WARS1	100.00	No comment
WDR45	100.00	No comment
WDR48	100.00	No comment
WNK1	100.00	No comment
XK	99.44	No comment
YARS1	100.00	No comment
YARS2	100.00	No comment
ZC4H2	100.00	No comment
ZFHX2	100.00	No comment
ZFR	100.00	No comment
ZFYVE26	100.00	No comment
ZFYVE27	100.00	No comment

Neuromuscular disorders (166 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACADVL	0.00	No value for column 2
ACTA1	0.00	No value for column 2
AGRN	0.00	No value for column 2
ALDOA	0.00	No value for column 2
ALG14	0.00	No value for column 2
ALG2	99.94	No comment
ALS2	100.00	No comment
ANG	100.00	No comment
ANO5	100.00	No comment
ASAH1	99.94	No comment
ATP7A	100.00	No comment
ATXN2	89.10	No comment
B3GALNT2	85.88	No comment
B4GAT1	100.00	No comment
BAG3	100.00	No comment
BICD2	100.00	No comment
BIN1	100.00	No comment
BSCL2	100.00	No comment
C9ORF72	100.00	No comment
CAV3	100.00	No comment
CFL2	99.75	No comment
CHAT	100.00	No comment
CHKB	99.69	No comment
CHRNA1	100.00	No comment
CHRNB1	100.00	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	100.00	No comment
COL6A1	100.00	No comment
COL6A2	100.00	No comment
COL6A3	100.00	No comment
COLQ	100.00	No comment
CPT2	98.71	No comment
CRPPA	95.75	No comment
CRYAB	100.00	No comment
DAG1	100.00	No comment
DAO	100.00	No comment
DCTN1	100.00	No comment
DES	100.00	No comment
DGUOK	100.00	No comment
DMD	100.00	No comment
DNAJB2	100.00	No comment
DNAJB6	99.34	No comment
DNM2	99.95	No comment
DOK7	98.77	No comment
DOLK	100.00	No comment
DPAGT1	100.00	No comment
DPM1	100.00	No comment
DPM2	100.00	No comment
DPM3	100.00	No comment
DYNC1H1	100.00	No comment
DYSF	100.00	No comment
ECEL1	95.92	No comment
EMD	99.84	No comment
ENO3	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
FBLN5	100.00	No comment
FBXO38	100.00	No comment
FDX2	100.00	No comment
CFH	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNC	100.00	No comment
FUS	100.00	No comment
GAA	100.00	No comment
GARS1	99.53	No comment
GFPT1	99.98	No comment
GLE1	100.00	No comment
GMPPB	100.00	No comment
GNE	100.00	No comment
GRN	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HARS1	100.00	No comment
HEXB	99.82	No comment
HNRNPA1	99.61	No comment
HNRNPA2B1	100.00	No comment
HSPB1	100.00	No comment
HSPB3	100.00	No comment
HSPB8	100.00	No comment
IGHMBP2	100.00	No comment
ISCU	99.39	No comment
KBTBD13	97.91	No comment
KLHL40	100.00	No comment
KLHL9	100.00	No comment
LAMA2	100.00	No comment
LAMB2	100.00	No comment
LARGE1	100.00	No comment
LAS1L	100.00	No comment
LDB3	100.00	No comment
LMNA	99.93	No comment
LPIN1	100.00	No comment
CORIN	98.90	No comment
MATR3	100.00	No comment
MEGF10	100.00	No comment
MTM1	100.00	No comment
MUSK	100.00	No comment
MYBPC3	100.00	No comment
MYH7B	100.00	No comment
MYH3	100.00	No comment
MYH7	100.00	No comment
MYH8	100.00	No comment
MYOT	100.00	No comment
NEB	99.99	No comment
NEFH	84.73	No comment
OPTN	100.00	No comment
PABPN1	91.84	No comment
PFKM	100.00	No comment
PFN1	100.00	No comment
PGAM2	100.00	No comment
PGK1	100.00	No comment
PGM1	100.00	No comment
PHKA1	100.00	No comment
PHKB	100.00	No comment
PLEC	99.82	No comment
PLEKHG5	99.10	No comment
POLG	100.00	No comment
POMGNT1	100.00	No comment
POMGNT2	100.00	No comment
POMK	100.00	No comment
POMT1	100.00	No comment
POMT2	99.90	No comment
PREPL	100.00	No comment
PYGM	100.00	No comment
QDPR	99.04	No comment
RAPSN	100.00	No comment
REEP1	97.37	No comment
RXYLT1	99.84	No comment
RYR1	98.38	No comment
SCN4A	100.00	No comment
SELENON	84.04	No comment
SETX	100.00	No comment
SIGMAR1	96.60	No comment
SIL1	100.00	No comment
SLC18A3	100.00	No comment
SLC52A2	100.00	No comment
SLC52A3	100.00	No comment
SLC5A7	100.00	No comment
SMN1	96.55	No comment
SNAP25	100.00	No comment
SOD1	100.00	No comment
SQSTM1	93.68	No comment
SYT2	100.00	No comment
TAF15	100.00	No comment
TARDBP	100.00	No comment
TFG	100.00	No comment
TIA1	100.00	No comment
TNNI2	100.00	No comment
TNNT1	98.58	No comment
TNNT3	100.00	No comment
TNPO3	100.00	No comment
TPM2	100.00	No comment
TPM3	99.55	No comment
TRPV4	100.00	No comment
TSEN54	94.23	No comment
TTN	100.00	No comment
UBA1	100.00	No comment
UBQLN2	99.88	No comment
UNC13A	99.87	No comment
VAPB	100.00	No comment
VCP	98.45	No comment
VEGFA	98.73	No comment
VRK1	100.00	No comment

Neuropathy (148 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	1	NM_001605.3
ABHD12	100.00	1	NM_001042472.3
AIFM1	100.00	1	NM_004208.4
APTX	100.00	1	NM_001195248.2
ARHGEF10	100.00	1	NM_014629.4
ATL1	100.00	1	NM_015915.5
ATP1A1	100.00	1	NM_000701.8
ATP7A	100.00	1	NM_000052.7
BICD2	100.00	1	NM_001003800.2
BSCL2	100.00	1	NM_001122955.3
MTRFR	100.00	1	NM_152269.5
COX6A1	100.00	1	NM_004373.4
CTDP1	100.00	1	NM_004715.5
DCTN1	100.00	1	NM_004082.4
DHTKD1	100.00	1	NM_018706.7
DNAJB2	100.00	1	NM_006736.6
DNM2	100.00	1	NM_001005361.3
DNMT1	99.93	1	NM_001130823.3
DST	100.00	1	NM_001144770.2
DYNC1H1	100.00	1	NM_001376.5
EGR2	100.00	1	NM_000399.5
ELP1	100.00	1	NM_003640.5
FBLN5	100.00	1	NM_006329.3
FBXO38	100.00	1	NM_205836.3
FGD4	100.00	1	NM_001304480.1
FIG4	100.00	1	NM_014845.6
GAN	100.00	1	NM_022041.3
GARS1	100.00	1	NM_002047.4
GDAP1	100.00	1	NM_018972.4
GJB1	100.00	1	NM_000166.6
GJB3	100.00	1	NM_024009.3
GNB4	100.00	1	NM_021629.4
HARS1	100.00	1	NM_002109.6
HINT1	100.00	1	NM_005340.7
HK1	100.00	1	NM_001358263.1
HOXD10	100.00	1	NM_002148.4
HSPB1	100.00	1	NM_001540.5
HSPB3	100.00	1	NM_006308.3
HSPB8	100.00	1	NM_014365.3
IFRD1	100.00	1	NM_001007245.2
IGHMBP2	100.00	1	NM_002180.3
INF2	99.00	1	NM_022489.4
KARS1	100.00	1	NM_001130089.1
KIF1A	100.00	1	NM_001244008.1
KIF1B	100.00	1	NM_015074.3
KIF5A	100.00	1	NM_004984.4
LITAF	100.00	1	NM_001136472.1
LMNA	100.00	1	NM_170707.4
LRSAM1	100.00	1	NM_001005373.3
MARS1	100.00	1	NM_004990.4
MED25	100.00	1	NM_030973.3
MFN2	100.00	1	NM_014874.4
MME	100.00	1	NM_007289.4
MORC2	100.00	1	NM_001303256.3
MPZ	100.00	1	NM_000530.8
MTMR2	100.00	1	NM_016156.6
MYH14	100.00	1	NM_001145809.2
NAGLU	100.00	1	NM_000263.4
NDRG1	100.00	1	NM_006096.4
NEFH	100.00	1	NM_021076.4
NEFL	100.00	1	NM_006158.5
NGF	100.00	1	NM_002506.3
NTRK1	100.00	1	NM_002529.3
PDK3	100.00	1	NM_001142386.3
PEX1	100.00	1	NM_000466.3
PEX7	100.00	1	NM_000288.4
PHYH	100.00	1	NM_006214.4
PLEKHG5	100.00	1	NM_001265592.1
PMP22	100.00	1	NM_000304.4
POLG	100.00	1	NM_001126131.2
PRDM12	98.36	1	NM_021619.3
PRPS1	100.00	1	NM_002764.4
PRX	100.00	1	NM_181882.3
RAB7A	100.00	1	NM_004637.6
REEP1	100.00	1	NM_001371279.1
RETREG1	100.00	1	NM_001034850.2
SBF1	100.00	1	NM_002972.4
SBF2	100.00	1	NM_030962.3
SCN11A	100.00	1	NM_001349253.2
SCN9A	100.00	1	NM_001365536.1
SCO2	100.00	1	NM_005138.3
SETX	100.00	1	NM_015046.7
SH3TC2	100.00	1	NM_024577.4
SLC12A6	100.00	1	NM_001365088.1
SLC5A7	100.00	1	NM_021815.5
SOX10	100.00	1	NM_006941.4
SPG11	100.00	1	NM_025137.4
SPTLC1	100.00	1	NM_006415.4
SPTLC2	100.00	1	NM_004863.3
TDP1	100.00	1	NM_018319.4
TECPR2	100.00	1	NM_014844.5
TFG	100.00	1	NM_006070.6
TRIM2	100.00	1	NM_015271.5
TRPV4	100.00	1	NM_021625.5
TTR	100.00	1	NM_000371.4
TUBB3	100.00	1	NM_006086.4
TYMP	100.00	1	NM_001257989.1
VCP	100.00	1	NM_007126.5
WNK1	100.00	1	NM_018979.4
YARS1	100.00	1	NM_003680.3
AAAS	100.00	1	NM_015665.6
ALS2	100.00	1	NM_020919.4
ANG	100.00	1	NM_001145.4
ANXA11	100.00	1	NM_145868.2
ATL3	100.00	1	NM_015459.5
CNTNAP1	100.00	1	NM_003632.3
COA8	100.00	1	NM_001370595.1
COL4A1	100.00	1	NM_001845.6
DCAF8	100.00	1	NM_015726.4
DCX	100.00	1	NM_001195553.2
ERBB4	100.00	1	NM_005235.3
FUS	100.00	1	NM_004960.4
GBF1	100.00	1	NM_004193.3
GCH1	100.00	1	NM_000161.3
GLA	100.00	1	NM_000169.3
HTRA1	100.00	1	NM_002775.5
KLC2	100.00	1	NM_001134775.1
MATR3	100.00	1	NM_018834.6
MCM3AP	100.00	1	NM_003906.5
MPV17	100.00	1	NM_002437.5
NEK1	100.00	1	NM_001199397.3
NFASC	100.00	1	NM_001005388.2
OPTN	100.00	1	NM_001008212.2
PDXK	100.00	1	NM_003681.5
PFN1	100.00	1	NM_005022.4
PMP2	100.00	1	NM_002677.5
PNKP	100.00	1	NM_007254.4
PRPH	100.00	1	NM_006262.4
PTRH2	100.00	1	NM_016077.5
SCN10A	100.00	1	NM_006514.3
SEPTIN9	100.00	1	NM_001113491.2
SGPL1	100.00	1	NM_003901.4
SIGMAR1	100.00	1	NM_005866.4
SLC25A46	100.00	1	NM_138773.4
SMN1	6.96	1	NM_000344.3
SOD1	100.00	1	NM_000454.5
SORD	94.98	1	NM_003104.6
SQSTM1	100.00	1	NM_003900.5
SURF1	100.00	1	NM_003172.4
SYT2	100.00	1	NM_177402.5
TARDBP	100.00	1	NM_007375.4
TIA1	100.00	1	NM_022173.4
TRPA1	100.00	1	NM_007332.3
TUBA1A	100.00	1	NM_006009.4
TUBA4A	100.00	1	NM_006000.3
UBQLN2	100.00	1	NM_013444.3
VAPB	100.00	1	NM_004738.5
WARS1	100.00	1	NM_004184.4

Neuropathy (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.94	1
ABCA1	99.92	1
ABHD12	99.11	1
ADPRS	100.00	1
AGTPBP1	99.40	1
AIFM1	99.43	1
ARHGEF10	100.00	1
ARSA	100.00	1
ATL1	99.95	1
ATL3	99.86	1
ATM	99.83	1
ATP1A1	99.94	1
ATP7A	99.35	1
B4GALNT1	99.95	1
BAG3	100.00	1
BICD2	100.00	1
BSCL2	100.00	1
CADM3	99.94	1
CD59	99.97	1
CFAP276	99.73	1
CHCHD10	97.06	1
CLTCL1	99.98	1
CNTNAP1	99.80	1
COA7	100.00	1
COX20	99.40	1
COX6A1	99.99	1
CTDP1	98.02	1
CTNNB1	99.98	1
CYP27A1	99.96	1
DARS2	99.86	1
DCAF8	99.98	1
DCTN1	99.95	1
DGAT2	99.99	1
DGUOK	99.76	1
DHTKD1	99.88	1
DNAJB2	100.00	1
DNAJC3	99.58	1
DNM2	99.96	1
DNMT1	99.88	1
DRP2	99.45	1
DST	99.92	1
DYNC1H1	99.97	1
EGR2	100.00	1
ELP1	99.96	1
ETFDH	99.76	1
FBLN5	92.79	1
FBXO38	99.93	1
FGD4	99.89	1
FIG4	99.94	1
FLVCR1	99.93	1
FXN	97.92	1
GALC	99.88	1
GAN	99.84	1
GARS1	99.86	1
GBA2	99.97	1
GBE1	99.84	1
GBF1	99.95	1
GDAP1	99.93	1
GJB1	99.99	1
GJB3	100.00	1
GJC2	96.12	1
GLA	99.64	1
GNB4	99.95	1
GSN	97.83	1
HADHA	99.96	1
HADHB	99.97	1
HARS1	99.99	1
HINT1	99.96	1
HK1	96.86	1
HNRNPA1	100.00	1
HOXD10	100.00	1
HSPB1	99.83	1
HSPB3	100.00	1
HSPB8	99.90	1
IARS2	99.96	1
IFRD1	99.96	1
IGHMBP2	99.99	1
INF2	97.15	1
ITPR3	99.88	1
JAG1	99.92	1
KIF1A	99.96	1
KIF5A	99.93	1
LITAF	100.00	1
LMNA	99.98	1
LRSAM1	99.97	1
LYST	99.92	1
MCM3AP	99.96	1
MFN2	99.96	1
MMACHC	99.99	1
MME	97.69	1
MORC2	99.98	1
MPV17	100.00	1
MPZ	99.97	1
MTMR2	99.98	1
MTRFR	99.85	1
MYH14	99.79	1
NAGA	99.99	1
NAGLU	98.00	1
NARS1	99.74	1
NDRG1	100.00	1
NEFH	98.77	1
NEFL	99.99	1
NGF	99.99	1
NTRK1	99.67	1
PCYT2	97.60	1
PDK3	98.86	1
PEX7	99.87	1
PHYH	99.65	1
PIEZO2	99.88	1
PLD3	99.99	1
PLEKHG5	99.66	1
PLP1	99.93	1
PMM2	99.94	1
PMP2	99.95	1
PMP22	100.00	1
PNKP	100.00	1
PNPLA6	99.88	1
POLG	99.98	1
POLR3B	99.88	1
PPOX	99.94	1
PRDM12	99.60	1
PRKCG	99.90	1
PRNP	100.00	1
PRPS1	99.79	1
PRX	99.94	1
PTEN	99.15	1
PTPN11	99.91	1
PTRH2	99.97	1
RAB7A	99.94	1
REEP1	99.99	1
RETREG1	99.92	1
RFC1	99.44	1
SACS	99.98	1
SBF1	99.97	1
SBF2	99.92	1
SCARB2	99.94	1
SCN10A	99.97	1
SCN11A	99.77	1
SCN9A	99.96	1
SCO2	100.00	1
SCYL1	99.64	1
SEPTIN9	99.94	1
SETX	99.96	1
SH3TC2	99.98	1
SIGMAR1	99.99	1
SLC12A6	99.88	1
SLC25A19	99.99	1
SLC25A46	99.93	1
SLC52A2	100.00	1
SLC52A3	100.00	1
SLC5A7	99.97	1
SORD	92.86	1
SOX10	100.00	1
SPAST	99.83	1
SPG11	99.94	1
SPG7	99.99	1
SPTAN1	99.97	1
SPTBN4	99.19	1
SPTLC1	99.98	1
SPTLC2	99.94	1
SPTLC3	99.94	1
SURF1	97.64	1
SYT2	99.89	1
TBCE	99.69	1
TBCK	99.76	1
TECPR2	99.90	1
TFG	99.34	1
TRIM2	99.99	1
TRPV4	99.96	1
TTPA	99.97	1
TTR	100.00	1
TUBB3	100.00	1
TWNK	100.00	1
UCHL1	99.99	1
VAPB	99.94	1
VCP	99.92	1
VPS13A	99.60	1
VRK1	99.94	1
VWA1	91.35	1
WARS1	99.79	1
WNK1	99.94	1
XRCC1	99.94	1
YARS1	99.96	1
ZFHX2	99.98	1
ZFYVE26	99.96	1

Neuropathy panel - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.99	1
ABCA1	99.92	1
ABHD12	99.98	1
AGTPBP1	99.68	1
AGXT	100.00	1
AHNAK2	97.58	1
AIFM1	99.92	1
AMACR	100.00	1
AP1S1	99.49	1
APOA1	100.00	1
APTX	99.92	1
AR	99.76	1
ARHGEF10	100.00	1
ARSA	99.99	1
ASAH1	99.90	1
ASCC1	90.99	1
ATAD3A	99.62	1
ATL1	99.95	1
ATL3	99.75	1
ATM	99.83	1
ATP1A1	98.41	1
ATP7A	99.87	1
B4GALNT1	99.97	1
BAG3	100.00	1
BCKDHB	99.73	1
BICD2	99.99	1
BSCL2	99.99	1
CFAP276	98.35	1
CCT5	99.99	1
CD59	100.00	1
CHCHD10	100.00	1
CNTNAP1	99.98	1
COA7	99.91	1
COX6A1	99.98	1
CPOX	99.99	1
CTDP1	99.97	1
CYP27A1	100.00	1
DARS2	98.31	1
DCAF8	99.83	1
DCTN1	99.98	1
DEGS1	99.99	1
DGAT2	99.99	1
DGUOK	99.93	1
DHTKD1	99.95	1
DNAJB2	99.97	1
DNAJC3	99.92	1
DNM2	99.99	1
DNMT1	99.13	1
DRP2	99.94	1
DST	99.52	1
DYNC1H1	99.99	1
EGR2	100.00	1
ELP1	99.96	1
ERCC6	99.60	1
ERCC8	99.79	1
ETFDH	99.82	1
EXOSC3	100.00	1
EXOSC8	99.91	1
EXOSC9	94.91	1
FANCA	99.98	1
HYCC1	99.81	1
FBLN5	100.00	1
FBXO38	99.96	1
FGD4	99.87	1
FIG4	99.83	1
FLVCR1	99.91	1
FXN	99.96	1
GALC	99.92	1
GAN	99.98	1
GARS1	99.93	1
GBA2	99.99	1
GBF1	99.97	1
GDAP1	99.98	1
GJB1	100.00	1
GJC2	100.00	1
GLA	99.90	1
GNB4	99.96	1
GNE	99.99	1
GSN	99.93	1
HADHA	99.98	1
HADHB	99.82	1
HARS1	99.96	1
HINT1	99.86	1
HK1	99.97	1
HMBS	99.97	1
HSPB1	99.97	1
HSPB3	99.97	1
HSPB8	100.00	1
IARS2	99.77	1
IGHMBP2	99.92	1
INF2	99.99	1
ITPR3	99.98	1
JAG1	100.00	1
KARS1	99.98	1
KCNA2	99.99	1
KIF1A	99.96	1
KIF1B	99.97	1
KIF26B	100.00	1
KIF5A	99.91	1
LITAF	83.22	1
LMNA	99.96	1
LRSAM1	99.99	1
LYST	99.87	1
MARS1	99.97	1
MCM3AP	99.98	1
MFN2	99.98	1
MICAL1	99.99	1
MMACHC	99.98	1
MME	97.17	1
MORC2	100.00	1
MPV17	99.98	1
MPZ	99.99	1
MTMR2	99.94	1
MTRFR	99.87	1
MTTP	99.92	1
MYH7B	99.98	1
NAGA	100.00	1
NAGLU	100.00	1
NDRG1	99.99	1
NEFH	100.00	1
NEFL	100.00	1
NGF	100.00	1
NMNAT2	99.79	1
NTRK1	99.86	1
MED12	99.95	1
OPA3	100.00	1
PDHA1	99.04	1
PDK3	99.49	1
PDYN	100.00	1
PEX10	100.00	1
PEX7	99.72	1
PHYH	100.00	1
PLEKHG5	99.99	1
PLP1	99.98	1
PMM2	99.93	1
PMP2	99.93	1
PMP22	100.00	1
PNKP	100.00	1
PNPLA6	99.99	1
POLG	100.00	1
POLG2	99.51	1
POLR3A	99.97	1
HCRT	99.85	1
PRDM12	100.00	1
PRKCG	99.99	1
PRPS1	99.95	1
PRUNE1	99.85	1
PRX	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
PTRH2	99.99	1
RAB7A	100.00	1
RBM7	99.99	1
REEP1	99.97	1
RETREG1	99.99	1
SACS	99.97	1
SBF1	99.99	1
SBF2	99.77	1
SCARB2	99.99	1
SCN10A	99.99	1
SCN11A	99.94	1
SCN9A	99.83	1
SCO2	100.00	1
SCYL1	100.00	1
SEPTIN9	99.99	1
SETX	99.97	1
SGPL1	99.95	1
SH3TC2	100.00	1
SIGMAR1	99.99	1
SLC12A6	99.98	1
SLC25A19	99.99	1
SLC25A21	99.98	1
SLC25A46	99.88	1
SLC52A2	100.00	1
SLC52A3	99.94	1
SLC5A7	99.57	1
SMN1	7.60	1
SMN2	6.68	1
SORD	85.52	1
SOX10	100.00	1
SPAST	99.77	1
SPG11	99.89	1
SPG7	99.99	1
SPTAN1	99.96	1
SPTBN4	99.91	1
SPTLC1	99.74	1
SPTLC2	99.95	1
SUCLA2	99.96	1
SURF1	100.00	1
TFG	98.68	1
TRIM2	99.98	1
TRIP4	99.97	1
TRPA1	99.67	1
TRPV4	100.00	1
TTPA	99.88	1
TTR	100.00	1
TUBB3	100.00	1
TWNK	100.00	1
TYMP	99.87	1
UBA1	99.93	1
VAPB	100.00	1
VCP	99.99	1
VPS13A	99.68	1
VRK1	99.98	1
WARS1	99.97	1
WNK1	99.98	1
XK	99.98	1
XPA	99.68	1
XRCC1	99.96	1
YARS1	99.29	1
ZFYVE26	100.00	1

Skeletal dysplasia (394 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCC9	100.00	No comment
ABL1	100.00	No comment
ACAN	98.89	No comment
ACP4	100.00	No comment
ACP5	100.00	No comment
ACVR1	100.00	No comment
ADAMTS10	99.88	No comment
ADAMTS17	89.95	No comment
ADAMTSL2	100.00	No comment
AFF4	100.00	No comment
AGA	100.00	No comment
AGPS	100.00	No comment
AHDC1	100.00	No comment
AKT1	100.00	No comment
ALPL	100.00	No comment
ALX1	100.00	No comment
ALX3	91.36	No comment
ALX4	99.70	No comment
AMER1	100.00	No comment
ANKH	100.00	No comment
ANO5	100.00	No comment
ANTXR2	100.00	No comment
APC	100.00	No comment
ARCN1	100.00	No comment
ARHGAP31	100.00	No comment
ARID1A	94.64	No comment
ARID1B	92.99	No comment
SLURP1	85.73	No comment
ARSL	100.00	No comment
ASCC1	91.27	No comment
ASXL2	100.00	No comment
ATP6V0A2	100.00	No comment
B3GALT6	56.12	No comment
B3GAT3	95.56	No comment
B4GALT7	93.23	No comment
BGN	100.00	No comment
BHLHA9	38.48	No comment
BMP1	99.86	No comment
BMP2	100.00	No comment
BMPER	100.00	No comment
BMPR1B	100.00	No comment
BRIP1	100.00	No comment
C1R	100.00	No comment
C1S	100.00	No comment
C2CD3	100.00	No comment
CA2	100.00	No comment
CANT1	100.00	No comment
CASR	100.00	No comment
CC2D2A	98.16	No comment
CCDC8	100.00	No comment
CCN6	100.00	No comment
CCNQ	84.41	No comment
CD96	100.00	No comment
CDC45	100.00	No comment
CDC6	100.00	No comment
CDH3	100.00	No comment
CDKN1C	62.25	No comment
CDT1	87.95	No comment
CEP120	100.00	No comment
CEP290	99.99	No comment
CHD7	100.00	No comment
CHST14	98.57	No comment
CHST3	100.00	No comment
CHSY1	91.67	No comment
CKAP2L	100.00	No comment
CLCN5	100.00	No comment
CLCN7	94.99	No comment
COG1	99.24	No comment
COL10A1	100.00	No comment
COL11A1	100.00	No comment
COL11A2	99.14	No comment
COL1A1	100.00	No comment
COL1A2	99.93	No comment
COL2A1	100.00	No comment
COL9A1	100.00	No comment
COL9A2	100.00	No comment
COL9A3	96.41	No comment
COMP	99.90	No comment
CPLANE1	100.00	No comment
CREB3L1	100.00	No comment
CREBBP	100.00	No comment
CRTAP	89.72	No comment
CSPP1	100.00	No comment
CTSA	100.00	No comment
CTSK	100.00	No comment
CUL7	99.99	No comment
CYP26B1	100.00	No comment
DDR2	100.00	No comment
RIGI	100.00	No comment
DDX59	100.00	No comment
DHCR24	99.96	No comment
DHODH	100.00	No comment
DLL3	78.42	No comment
DLX3	100.00	No comment
DLX5	100.00	No comment
DLX6	99.69	No comment
DMP1	100.00	No comment
DOCK6	99.12	No comment
DVL1	100.00	No comment
DVL3	100.00	No comment
DYM	100.00	No comment
DYNC2H1	100.00	No comment
DYNC2LI1	100.00	No comment
GLB1	100.00	No comment
EDNRA	100.00	No comment
EFNA4	100.00	No comment
EFNB1	100.00	No comment
EFTUD2	100.00	No comment
EIF2AK3	95.52	No comment
EIF4A3	100.00	No comment
ELMO2	100.00	No comment
ENPP1	96.48	No comment
EOGT	100.00	No comment
EP300	100.00	No comment
ERCC4	100.00	No comment
ERF	100.00	No comment
ESCO2	100.00	No comment
EVC	94.45	No comment
EVC2	99.55	No comment
EXT1	100.00	No comment
EXT2	100.00	No comment
EZH2	100.00	No comment
FAM111A	100.00	No comment
FAM20C	92.71	No comment
FANCA	99.70	No comment
FANCB	100.00	No comment
FANCC	100.00	No comment
FANCD2	100.00	No comment
FANCE	91.17	No comment
FANCF	100.00	No comment
FANCG	100.00	No comment
FANCI	100.00	No comment
FANCL	100.00	No comment
FBLN1	95.59	No comment
FBN1	100.00	No comment
FBN2	100.00	No comment
FBXW4	92.44	No comment
FERMT3	100.00	No comment
FGF10	100.00	No comment
FGF16	100.00	No comment
FGF23	100.00	No comment
FGF3	80.02	No comment
FGF4	70.06	No comment
FGF8	94.82	No comment
FGF9	100.00	No comment
FGFR1	100.00	No comment
FGFR2	100.00	No comment
FGFR3	99.26	No comment
FIG4	100.00	No comment
FKBP10	100.00	No comment
FLNA	100.00	No comment
FLNB	100.00	No comment
FMN1	100.00	No comment
FN1	100.00	No comment
FREM1	100.00	No comment
FUCA1	100.00	No comment
FZD2	98.72	No comment
GALNS	96.18	No comment
GALNT3	100.00	No comment
GDF3	100.00	No comment
GDF5	100.00	No comment
GDF6	93.56	No comment
GJA1	100.00	No comment
GLI3	100.00	No comment
GNAS	98.96	No comment
GNPAT	100.00	No comment
GNPTAB	100.00	No comment
GNPTG	94.69	No comment
GNS	100.00	No comment
GORAB	100.00	No comment
GPC3	100.00	No comment
GPC6	100.00	No comment
GPR68	100.00	No comment
GPX4	87.15	No comment
GREM1	100.00	No comment
GUSB	100.00	No comment
HDAC4	100.00	No comment
HDAC8	100.00	No comment
HES7	99.67	No comment
HOXA11	99.40	No comment
HOXA13	73.35	No comment
HOXD13	80.52	No comment
HPGD	99.99	No comment
HSPG2	99.43	No comment
HUWE1	100.00	No comment
CILK1	100.00	No comment
IDH1	100.00	No comment
IDH2	92.01	No comment
IDS	100.00	No comment
IFITM5	100.00	No comment
IFT122	100.00	No comment
IFT140	100.00	No comment
IFT172	100.00	No comment
IFT43	100.00	No comment
IFT80	100.00	No comment
IGF1R	100.00	No comment
IHH	99.88	No comment
IKBKG	99.74	No comment
IL11RA	100.00	No comment
IL1RN	100.00	No comment
BPNT2	98.65	No comment
INPPL1	96.74	No comment
JAG1	99.66	No comment
KAT6B	100.00	No comment
KIF22	100.00	No comment
KIF7	96.94	No comment
KRAS	100.00	No comment
LBR	100.00	No comment
LEMD3	100.00	No comment
LFNG	82.55	No comment
LIFR	100.00	No comment
LMBR1	100.00	No comment
LMNA	99.93	No comment
LMX1B	99.99	No comment
LONP1	99.83	No comment
LPIN2	100.00	No comment
LRIT3	100.00	No comment
CORIN	98.90	No comment
LRP5	97.87	No comment
LTBP2	100.00	No comment
LTBP3	96.02	No comment
MAB21L2	100.00	No comment
MAFB	99.89	No comment
MAN2B1	100.00	No comment
MAN2C1	100.00	No comment
MAP3K7	100.00	No comment
MATN3	86.25	No comment
MEGF8	99.99	No comment
MEOX1	100.00	No comment
MESP2	100.00	No comment
MGP	100.00	No comment
MITF	100.00	No comment
MKS1	100.00	No comment
MMP13	100.00	No comment
MMP2	100.00	No comment
MMP9	100.00	No comment
MNX1	71.50	No comment
MSX2	100.00	No comment
MYCN	86.70	No comment
MYT1	100.00	No comment
NAGLU	87.38	No comment
NEK1	100.00	No comment
NEU1	100.00	No comment
NF1	99.95	No comment
NFIX	97.15	No comment
NIPBL	99.98	No comment
NKX3-2	96.89	No comment
NLRP3	100.00	No comment
NOG	100.00	No comment
NOTCH2	99.76	No comment
NPRL2	100.00	No comment
NSD1	100.00	No comment
NSDHL	100.00	No comment
NTRK2	100.00	No comment
OBSL1	98.31	No comment
OFD1	99.88	No comment
SLC25A15	100.00	No comment
ORC4	100.00	No comment
ORC6	100.00	No comment
OSTM1	99.55	No comment
P3H1	99.77	No comment
P4HB	99.90	No comment
PALB2	100.00	No comment
PAM16	96.78	No comment
PANK2	98.60	No comment
PAPSS2	100.00	No comment
PCNT	100.00	No comment
PCYT1A	100.00	No comment
PDE3A	100.00	No comment
PDE4D	98.77	No comment
PEX7	91.13	No comment
PGM3	99.99	No comment
PHEX	100.00	No comment
PIGV	100.00	No comment
PIK3CA	100.00	No comment
PITX1	98.27	No comment
PLEKHM1	100.00	No comment
PLOD2	100.00	No comment
PLS3	100.00	No comment
POLR1A	100.00	No comment
POLR1C	100.00	No comment
POLR1D	100.00	No comment
BVES	100.00	No comment
PORCN	100.00	No comment
PPIB	100.00	No comment
PRKAR1A	100.00	No comment
PROK2	98.51	No comment
PTDSS1	100.00	No comment
PTH1R	99.01	No comment
PTHLH	100.00	No comment
PTPN11	98.80	No comment
PYCR1	100.00	No comment
RAB23	100.00	No comment
RAB33B	100.00	No comment
RAD21	100.00	No comment
RAD51C	100.00	No comment
RASGRP2	100.00	No comment
RBM8A	100.00	No comment
RBPJ	100.00	No comment
RECQL4	96.37	No comment
RMRP	100.00	No comment
RNU4ATAC	100.00	No comment
ROR2	98.67	No comment
RPGRIP1L	96.45	No comment
RSPO2	100.00	No comment
RSPRY1	100.00	No comment
RUNX2	98.51	No comment
SALL1	100.00	No comment
SALL4	100.00	No comment
SBDS	100.00	No comment
SEC24D	100.00	No comment
SERPINF1	100.00	No comment
SERPINH1	100.00	No comment
SETD2	100.00	No comment
SF3B4	100.00	No comment
SH3BP2	91.63	No comment
SH3PXD2B	99.68	No comment
SHOX	90.47	No comment
HHAT	90.28	No comment
SLC17A5	100.00	No comment
SLC26A2	99.96	No comment
SLC29A3	98.83	No comment
SLC34A3	100.00	No comment
SLC35D1	99.99	No comment
SLC39A13	100.00	No comment
SLCO5A1	100.00	No comment
SLX4	100.00	No comment
SMAD3	100.00	No comment
SMAD4	100.00	No comment
SMARCA2	98.07	No comment
SMARCA4	100.00	No comment
SMARCAL1	100.00	No comment
SMARCB1	100.00	No comment
SMC1A	100.00	No comment
SMC3	100.00	No comment
SMO	94.17	No comment
SNRPB	100.00	No comment
SNX10	100.00	No comment
SOST	99.39	No comment
SOX6	100.00	No comment
SOX9	97.88	No comment
SP7	100.00	No comment
STAT3	100.00	No comment
SULF1	100.00	No comment
SUMF1	100.00	No comment
TBCE	100.00	No comment
TBX15	100.00	No comment
TBX3	99.88	No comment
TBX4	94.32	No comment
TBX5	100.00	No comment
TBX6	100.00	No comment
TBXAS1	100.00	No comment
TCF12	100.00	No comment
TCIRG1	100.00	No comment
TCOF1	99.99	No comment
TCTN3	100.00	No comment
TGDS	100.00	No comment
TGFB1	99.97	No comment
TGFB2	100.00	No comment
TGFBR1	92.91	No comment
TGFBR2	100.00	No comment
THPO	100.00	No comment
TMCO1	100.00	No comment
TMEM216	100.00	No comment
TMEM38B	100.00	No comment
TMEM67	100.00	No comment
TNFRSF11B	100.00	No comment
TP63	100.00	No comment
TRAPPC2	95.31	No comment
TREM2	100.00	No comment
TRIP11	100.00	No comment
TRIP4	100.00	No comment
TRPS1	100.00	No comment
TRPV4	100.00	No comment
TTC21B	100.00	No comment
TWIST1	70.93	No comment
TYROBP	100.00	No comment
UBE2T	100.00	No comment
WDR19	100.00	No comment
DYNC2I2	93.01	No comment
WDR35	100.00	No comment
WNT1	98.70	No comment
WNT10B	98.99	No comment
WNT3	100.00	No comment
WNT5A	99.97	No comment
WNT6	96.35	No comment
WNT7A	100.00	No comment
XYLT1	88.83	No comment
XYLT2	98.70	No comment
ZEB2	100.00	No comment
ZIC1	100.00	No comment
ZMPSTE24	100.00	No comment
ZSWIM6	88.87	No comment

Skeletal dysplasia (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ALPL	100.00	1
ALX3	100.00	1
ARID1A	99.99	1
B3GALT6	92.42	1
CDC73	99.98	1
COL11A1	99.99	1
COL9A2	100.00	1
CTSK	100.00	1
DDR2	100.00	1
DHCR24	100.00	1
DVL1	100.00	1
FAM20B	100.00	1
FUCA1	100.00	1
GNAI3	99.99	1
GNPAT	99.96	1
GORAB	99.99	1
HHAT	100.00	1
HS2ST1	99.93	1
HSPG2	99.99	1
IARS2	100.00	1
LBR	99.99	1
LMNA	100.00	1
NLRP3	100.00	1
NMNAT1	95.03	1
NOTCH2	100.00	1
NRAS	99.97	1
ORC1	100.00	1
P3H1	100.00	1
PHGDH	100.00	1
PIGV	100.00	1
PLOD1	100.00	1
POLR3GL	100.00	1
PRKACB	100.00	1
PRRX1	100.00	1
RBM8A	100.00	1
SDCCAG8	99.99	1
SF3B4	100.00	1
SKI	100.00	1
SLC25A24	99.30	1
SLC35D1	99.68	1
TBCE	100.00	1
TBX15	100.00	1
TGFB2	100.00	1
TMCO1	99.91	1
TMEM53	100.00	1
ZMPSTE24	99.99	1
CHST3	100.00	1
DNA2	99.99	1
FBXW4	98.98	1
FGFR2	100.00	1
KAT6B	100.00	1
KIF5B	99.93	1
PAPSS2	99.93	1
POLR3A	100.00	1
SLC29A3	100.00	1
SMC3	99.98	1
TCTN3	100.00	1
ALG9	94.06	1
ALX4	100.00	1
ANO5	100.00	1
ARCN1	100.00	1
B3GAT3	94.88	1
BANF1	100.00	1
BBS1	100.00	1
C2CD3	99.99	1
CDKN1C	100.00	1
CREB3L1	100.00	1
CYP2R1	98.84	1
DPAGT1	100.00	1
DYNC2H1	99.84	1
EED	100.00	1
EXT2	100.00	1
FAM111A	100.00	1
FAR1	99.98	1
FERMT3	100.00	1
HRAS	100.00	1
IFITM5	100.00	1
INPPL1	99.93	1
LRP4	100.00	1
LRP5	100.00	1
LTBP3	100.00	1
MMP13	99.99	1
NADSYN1	100.00	1
PIK3C2A	99.99	1
PLCB3	100.00	1
RASGRP2	100.00	1
SERPINH1	100.00	1
SLC39A13	100.00	1
TCIRG1	100.00	1
TMEM138	100.00	1
TMEM216	100.00	1
ABCC9	99.99	1
ALX1	100.00	1
ATP6V0A2	100.00	1
BBS10	100.00	1
CEP290	99.84	1
CHST11	100.00	1
COL2A1	100.00	1
CYP27B1	100.00	1
FGF23	100.00	1
GDF3	100.00	1
GNPTAB	100.00	1
GNS	100.00	1
IFT81	94.63	1
LEMD3	100.00	1
MAPKAPK5	100.00	1
MGP	100.00	1
PDE3A	100.00	1
PEX5	100.00	1
POLE	100.00	1
POLR3B	99.98	1
PTHLH	100.00	1
PTPN11	99.98	1
RFLNA	99.50	1
SP7	100.00	1
TBX3	100.00	1
TBX5	100.00	1
TCTN1	94.52	1
TCTN2	99.95	1
TRPV4	100.00	1
VDR	99.44	1
VPS33A	95.74	1
WNT1	100.00	1
WNT10B	100.00	1
FGF9	99.98	1
GPC6	100.00	1
KL	98.69	1
POLR1D	99.94	1
TGDS	99.99	1
TNFSF11	100.00	1
AKT1	100.00	1
GNPNAT1	99.99	1
GSC	100.00	1
IFT43	100.00	1
KIAA0586	95.70	1
LTBP2	100.00	1
MMP14	100.00	1
SEC23A	99.98	1
SIX1	100.00	1
SMOC1	100.00	1
SRP54	99.97	1
TGFB3	100.00	1
LYSET	100.00	1
TRIP11	99.98	1
TTC8	99.96	1
ACAN	98.67	1
ADAMTS17	98.97	1
BBS4	100.00	1
CEP152	99.99	1
CHST14	99.49	1
CHSY1	99.98	1
DLL4	100.00	1
EFL1	100.00	1
FBN1	100.00	1
FMN1	100.00	1
GREM1	100.00	1
IDH2	99.93	1
KIF7	99.98	1
LRRK1	100.00	1
MAP2K1	100.00	1
MESD	100.00	1
MESP2	100.00	1
PPIB	100.00	1
SMAD3	100.00	1
SMAD6	100.00	1
TCF12	100.00	1
ANKRD11	100.00	1
BBS2	100.00	1
CBFB	100.00	1
CDH3	100.00	1
CDK10	100.00	1
CDT1	99.07	1
CLCN7	99.78	1
COG4	100.00	1
CREBBP	100.00	1
DHODH	100.00	1
GALNS	100.00	1
GINS2	100.00	1
GNPTG	99.45	1
IFT140	100.00	1
KIF22	100.00	1
MBTPS1	100.00	1
MMP2	100.00	1
ORC6	99.99	1
PAM16	100.00	1
PRMT7	99.99	1
RPGRIP1L	98.82	1
RPL13	100.00	1
RSPRY1	100.00	1
SALL1	100.00	1
TBC1D24	100.00	1
TBX6	100.00	1
TMEM231	100.00	1
TRAF7	100.00	1
VAC14	100.00	1
XYLT1	98.81	1
ACTG1	100.00	1
BHLHA9	99.55	1
CANT1	99.97	1
CDC6	100.00	1
COG1	100.00	1
COL1A1	100.00	1
DLX3	100.00	1
EFTUD2	100.00	1
EIF4A3	99.99	1
FKBP10	100.00	1
FZD2	100.00	1
HES7	100.00	1
KCNJ2	100.00	1
KIAA0753	100.00	1
MEOX1	100.00	1
MKS1	100.00	1
MYH3	100.00	1
NAGLU	99.96	1
NF1	99.98	1
NOG	100.00	1
NXN	100.00	1
P4HB	100.00	1
PLEKHM1	100.00	1
PRKAR1A	100.00	1
PYCR1	100.00	1
SERPINF1	100.00	1
SGSH	100.00	1
SMARCE1	99.97	1
SOST	100.00	1
SOX9	100.00	1
SUZ12	99.97	1
TBX4	99.45	1
WNT3	100.00	1
XYLT2	100.00	1
DYM	99.99	1
LPIN2	99.99	1
RBBP8	99.96	1
SMAD2	100.00	1
SMAD4	100.00	1
SMCHD1	99.97	1
TNFRSF11A	97.91	1
ACP5	100.00	1
ADAMTS10	100.00	1
AKT2	100.00	1
APC2	99.99	1
B9D2	100.00	1
CCDC8	100.00	1
COMP	100.00	1
DLL3	99.85	1
DOCK6	100.00	1
EPS15L1	100.00	1
ERF	100.00	1
FUZ	100.00	1
GPX4	96.50	1
LONP1	100.00	1
MAN2B1	100.00	1
MEGF8	99.96	1
NFIX	99.97	1
PRKACA	100.00	1
SMARCA4	100.00	1
TGFB1	100.00	1
TYROBP	100.00	1
UBA2	99.97	1
ACVR1	100.00	1
AFF3	100.00	1
AGPS	99.76	1
ANAPC1	99.82	1
ARHGAP25	100.00	1
BBS5	99.97	1
CKAP2L	100.00	1
COLEC11	100.00	1
CRIPT	100.00	1
CYP26B1	100.00	1
DNMT3A	100.00	1
DYNC2LI1	100.00	1
EIF2AK3	99.96	1
EN1	100.00	1
EXOC6B	99.77	1
FN1	100.00	1
FOSL2	100.00	1
GALNT3	99.99	1
GLI2	100.00	1
HAAO	100.00	1
HDAC4	100.00	1
HOXD13	100.00	1
IDH1	100.00	1
IFIH1	99.99	1
IFT172	100.00	1
IHH	100.00	1
IL1RN	100.00	1
KYNU	99.99	1
LTBP1	100.00	1
MAP3K20	100.00	1
MATN3	99.95	1
MTX2	99.95	1
MYCN	99.97	1
NBAS	100.00	1
NPPC	100.00	1
OBSL1	99.99	1
ORC4	100.00	1
PAX3	100.00	1
PKDCC	99.76	1
POLR1A	100.00	1
POLR1B	100.00	1
SIX2	100.00	1
SMARCAL1	100.00	1
TMEM237	99.98	1
TRAF3IP1	100.00	1
TTC21B	99.97	1
WDPCP	91.91	1
WDR35	99.99	1
WNT6	100.00	1
ASXL1	100.00	1
BMP2	99.98	1
COL9A3	100.00	1
CTSA	100.00	1
DDRGK1	100.00	1
DPM1	97.07	1
ELMO2	100.00	1
GDF5	100.00	1
GNAS	100.00	1
GZF1	100.00	1
IFT52	100.00	1
LAMA5	99.87	1
MAFB	100.00	1
MKKS	99.98	1
MMP9	100.00	1
PLCB4	100.00	1
SALL4	100.00	1
SNRPB	100.00	1
CFAP410	100.00	1
DONSON	99.81	1
PCNT	100.00	1
ALG12	100.00	1
CCDC134	100.00	1
CDC45	100.00	1
EP300	100.00	1
FBLN1	99.89	1
MCM5	100.00	1
MYO18B	100.00	1
PISD	100.00	1
SMARCB1	100.00	1
SPECC1L	100.00	1
ALG3	100.00	1
ARHGAP31	100.00	1
ARL6	100.00	1
ATR	99.98	1
CASR	100.00	1
COPB2	100.00	1
CRTAP	99.90	1
DVL3	100.00	1
DYNLT2B	100.00	1
EOGT	99.99	1
FLNB	100.00	1
GLB1	100.00	1
HYAL1	100.00	1
IFT122	100.00	1
IFT80	99.94	1
LMOD3	100.00	1
MASP1	100.00	1
MECOM	100.00	1
NEPRO	99.99	1
PCYT1A	100.00	1
PIK3CA	99.97	1
PLOD2	99.95	1
POC1A	100.00	1
PTH1R	100.00	1
SETD2	99.99	1
SLCO2A1	100.00	1
SUMF1	100.00	1
TGFBR2	100.00	1
THPO	100.00	1
TOP2B	99.85	1
TP63	99.99	1
TRAIP	100.00	1
WNT5A	100.00	1
WNT7A	100.00	1
ZIC1	100.00	1
AGA	100.00	1
ANTXR2	100.00	1
BBS12	100.00	1
BBS7	99.97	1
BMPR1B	100.00	1
CC2D2A	98.21	1
CENPE	99.92	1
DMP1	100.00	1
DSPP	100.00	1
EDNRA	100.00	1
EVC	96.08	1
EVC2	100.00	1
FGFR3	100.00	1
HPGD	99.99	1
IDUA	99.84	1
INTU	100.00	1
MAB21L2	100.00	1
MANBA	99.99	1
NEK1	99.99	1
NKX3-2	100.00	1
PRKG2	99.98	1
RAB33B	100.00	1
RBPJ	100.00	1
SEC24D	100.00	1
SGMS2	100.00	1
SH3BP2	98.03	1
SLC10A7	100.00	1
TAPT1	98.76	1
TMEM165	99.97	1
UFSP2	99.99	1
WDR19	99.94	1
ANKH	100.00	1
ARSB	99.92	1
ARSK	99.98	1
B4GALT7	99.95	1
BNIP1	100.00	1
CEP120	99.96	1
CPLANE1	99.97	1
CSF1R	100.00	1
DNAJC21	100.00	1
FBN2	99.99	1
FGF10	100.00	1
HSPA9	100.00	1
IL6ST	99.99	1
KIAA0825	99.99	1
LIFR	99.94	1
MSX2	100.00	1
NIPBL	99.91	1
NPR3	100.00	1
NSD1	100.00	1
PDE4D	99.99	1
PDGFRB	100.00	1
PITX1	100.00	1
SH3PXD2B	100.00	1
SLC26A2	100.00	1
SPARC	100.00	1
SQSTM1	100.00	1
TCOF1	100.00	1
XRCC4	100.00	1
ZSWIM6	97.48	1
ARID1B	99.51	1
CCN6	100.00	1
CILK1	99.92	1
COL10A1	100.00	1
COL11A2	100.00	1
COL9A1	99.99	1
CUL7	100.00	1
DSE	99.66	1
EDN1	100.00	1
ENPP1	99.27	1
FIG4	100.00	1
FOXC1	99.89	1
GCM2	100.00	1
GJA1	100.00	1
GMNN	99.99	1
ID4	97.95	1
MAP3K7	100.00	1
MCM3	100.00	1
NEU1	100.00	1
OSTM1	99.96	1
PEX7	100.00	1
PGM3	100.00	1
POLR1C	97.57	1
RAB23	100.00	1
RIPPLY2	99.85	1
RUNX2	100.00	1
SCUBE3	100.00	1
SLC17A5	99.99	1
SLC35B2	100.00	1
TAB2	100.00	1
TENT5A	100.00	1
TFAP2B	100.00	1
TREM2	100.00	1
ACTB	100.00	1
BBS9	99.96	1
BMPER	100.00	1
COL1A2	100.00	1
CYP3A4	99.94	1
DLX5	100.00	1
DLX6	100.00	1
DYNC2I1	96.68	1
EZH2	99.98	1
FAM20C	99.99	1
FKBP14	99.95	1
GLI3	100.00	1
GUSB	100.00	1
HOXA11	100.00	1
HOXA13	96.84	1
KDELR2	100.00	1
LFNG	94.20	1
LMBR1	99.96	1
MCM7	100.00	1
MET	100.00	1
MNX1	87.84	1
POR	100.00	1
RINT1	99.95	1
SBDS	100.00	1
SFRP4	100.00	1
SHH	100.00	1
SLC4A2	100.00	1
SMO	99.99	1
SNX10	99.97	1
TBXAS1	99.99	1
TRPV6	99.41	1
TWIST1	100.00	1
ASAH1	99.99	1
BMP1	100.00	1
BPNT2	100.00	1
CA2	100.00	1
COLEC10	100.00	1
CSGALNACT1	100.00	1
CSPP1	99.99	1
ESCO2	99.74	1
EXT1	100.00	1
EXTL3	100.00	1
FGFR1	100.00	1
GDF6	99.99	1
HGSNAT	96.79	1
NSMCE2	100.00	1
POP1	100.00	1
PTDSS1	100.00	1
RAD21	100.00	1
RECQL4	99.80	1
RSPO2	100.00	1
SLCO5A1	100.00	1
SULF1	100.00	1
TMEM67	99.30	1
TNFRSF11B	100.00	1
TONSL	100.00	1
TRPS1	100.00	1
ABL1	100.00	1
ADAMTSL2	100.00	1
COL27A1	100.00	1
RIGI	99.97	1
DYNC2I2	100.00	1
HNRNPK	100.00	1
IL11RA	100.00	1
LMX1B	100.00	1
MTAP	100.00	1
NANS	100.00	1
NOTCH1	100.00	1
NPR2	100.00	1
ROR2	99.98	1
SLC34A3	100.00	1
TGFBR1	100.00	1
TMEM38B	100.00	1
TRIM32	100.00	1
VCP	100.00	1
ZNF462	100.00	1
AIFM1	100.00	1
AMER1	100.00	1
ARSL	100.00	1
ATP7A	100.00	1
BGN	100.00	1
CCNQ	99.81	1
CLCN5	100.00	1
EBP	100.00	1
EFNB1	100.00	1
FANCB	100.00	1
FGD1	100.00	1
FGF16	100.00	1
FLNA	100.00	1
GPC3	100.00	1
GPC4	100.00	1
HDAC8	100.00	1
IDS	100.00	1
IKBKG	100.00	1
MBTPS2	100.00	1
MID1	100.00	1
NSDHL	100.00	1
OFD1	100.00	1
PHEX	99.99	1
PLS3	100.00	1
PORCN	100.00	1
SHOX	94.83	1
SMC1A	100.00	1
SMS	100.00	1
TRAPPC2	100.00	1
ZIC3	100.00	1

Skeletal dysplasia - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCC9	99.92	1
ABL1	100.00	1
ACAN	91.51	1
ACP5	100.00	1
ACVR1	99.94	1
ADAMTS10	99.99	1
ADAMTS17	99.99	1
ADAMTSL2	99.99	1
AFF4	99.94	1
AGA	99.92	1
AGPS	98.83	1
AHDC1	100.00	1
AKT1	100.00	1
ALG12	100.00	1
ALG3	99.96	1
ALG9	99.73	1
ALPL	99.88	1
ALX1	97.99	1
ALX3	99.74	1
ALX4	100.00	1
AMER1	100.00	1
ANAPC1	75.83	1
ANKH	99.95	1
ANKRD11	99.85	1
ANO5	99.85	1
ANTXR2	99.67	1
ARHGAP31	100.00	1
ARID1A	99.83	1
ARID1B	99.69	1
SLURP1	99.99	1
ARSL	99.93	1
ASXL1	100.00	1
ASXL2	99.82	1
ATP6V0A2	99.92	1
B3GALT6	100.00	1
B3GAT3	87.74	1
B3GLCT	99.90	1
B4GALT7	99.99	1
B9D1	99.80	1
BBS1	100.00	1
BBS10	99.98	1
BBS12	100.00	1
BBS2	99.90	1
BBS4	99.88	1
BBS5	99.00	1
BBS7	99.42	1
BBS9	99.75	1
BHLHA9	100.00	1
BMP1	99.94	1
BMP2	99.79	1
BMPER	99.94	1
BMPR1B	99.61	1
BPNT2	100.00	1
C2CD3	99.88	1
CA2	99.62	1
CANT1	100.00	1
CASR	99.99	1
CC2D2A	99.95	1
CCDC134	100.00	1
CCDC8	100.00	1
CCN6	99.89	1
CCNQ	99.98	1
CD96	99.91	1
CDC45	99.77	1
CDC6	99.85	1
CDH3	99.98	1
CDKN1C	100.00	1
CDT1	100.00	1
CEP120	99.90	1
CEP290	98.10	1
CFAP410	100.00	1
CHD7	99.99	1
CHST14	100.00	1
CHST3	100.00	1
CHSY1	99.99	1
CILK1	99.69	1
CKAP2L	99.54	1
CLCN5	99.67	1
CLCN7	99.99	1
COG1	100.00	1
COG4	99.96	1
COL10A1	100.00	1
COL11A1	90.72	1
COL11A2	99.99	1
COL1A1	99.90	1
COL1A2	99.34	1
COL2A1	99.87	1
COL9A1	99.91	1
COL9A2	98.76	1
COL9A3	99.99	1
COLEC11	100.00	1
COMP	100.00	1
CPLANE1	99.81	1
CREB3L1	99.88	1
CREBBP	99.97	1
CRTAP	99.98	1
CSF1R	99.92	1
CSGALNACT1	100.00	1
CSPP1	98.31	1
CTSA	99.98	1
CTSC	99.97	1
CTSK	99.31	1
CUL7	100.00	1
CYP27B1	99.98	1
CYP2R1	99.96	1
DCC	99.96	1
DDR2	99.58	1
RIGI	99.84	1
DDX59	99.67	1
DHCR24	99.93	1
DHCR7	99.97	1
DHODH	99.99	1
DIP2C	100.00	1
DLL3	100.00	1
DLL4	100.00	1
DLX3	99.98	1
DLX5	99.98	1
DLX6	99.82	1
DMP1	99.99	1
DNMT3A	100.00	1
DOCK6	100.00	1
DPAGT1	100.00	1
DPM1	90.68	1
DSPP	99.99	1
DVL1	100.00	1
DVL3	99.99	1
DYM	99.96	1
DYNC2H1	99.66	1
DYNC2I1	99.99	1
DYNC2I2	99.98	1
DYNC2LI1	99.94	1
DYNLT2B	100.00	1
GLB1	100.00	1
EDNRA	99.97	1
EFNA4	99.92	1
EFNB1	99.95	1
EFTUD2	99.93	1
EIF2AK3	97.43	1
EIF4A3	99.99	1
ENPP1	99.88	1
EOGT	99.09	1
EP300	99.97	1
ERCC4	99.92	1
ERF	99.98	1
ESCO2	99.92	1
EVC	99.95	1
EVC2	99.97	1
EXT1	99.94	1
EXT2	99.98	1
EXTL3	99.99	1
EZH2	99.89	1
FAM111A	100.00	1
FAM20C	100.00	1
FBLN1	98.69	1
FBN1	99.85	1
FBN2	99.90	1
FBXW4	99.31	1
FERMT3	99.99	1
FGF10	99.95	1
FGF16	99.60	1
FGF23	100.00	1
FGF3	99.97	1
FGF4	100.00	1
FGF8	100.00	1
FGF9	100.00	1
FGFR1	100.00	1
FGFR2	99.99	1
FGFR3	100.00	1
FIG4	99.83	1
FKBP10	99.98	1
FLNA	99.99	1
FLNB	99.98	1
FMN1	99.98	1
FREM1	99.98	1
FUCA1	98.72	1
FZD2	99.98	1
GALNS	99.98	1
GALNT3	99.52	1
GDF3	100.00	1
GDF5	100.00	1
GDF6	100.00	1
GFER	100.00	1
GJA1	100.00	1
GLI3	100.00	1
GNAS	100.00	1
GNPAT	99.78	1
GNPNAT1	99.99	1
GNPTAB	99.76	1
GNPTG	100.00	1
GNS	99.59	1
GORAB	99.59	1
GPC6	99.98	1
GPX4	100.00	1
GREM1	100.00	1
GUSB	95.07	1
GZF1	100.00	1
HDAC4	99.98	1
HDAC8	99.74	1
HES7	100.00	1
HGSNAT	99.93	1
HNRNPK	99.93	1
HOXA11	99.99	1
HOXA13	99.94	1
HOXD13	99.98	1
HPGD	99.98	1
HS2ST1	95.79	1
HSPG2	99.87	1
IDH1	99.91	1
IDH2	100.00	1
IDS	99.82	1
IDUA	99.99	1
IFIH1	99.84	1
IFITM5	100.00	1
IFT122	99.98	1
IFT140	100.00	1
IFT172	99.98	1
IFT43	99.97	1
IFT52	99.82	1
IFT80	99.69	1
IFT81	94.64	1
IHH	100.00	1
IKBKG	57.34	1
IL11RA	99.98	1
IL1RN	99.64	1
INPPL1	99.97	1
KAT6B	99.79	1
KDELR2	99.98	1
KIAA0753	100.00	1
KIAA1217	99.99	1
KIF22	99.89	1
KIF7	100.00	1
KMT2D	99.98	1
LBR	99.66	1
LEMD3	99.07	1
LFNG	100.00	1
LIFR	99.69	1
LMBR1	99.88	1
LMNA	99.96	1
LMX1B	100.00	1
LONP1	99.99	1
LPIN2	100.00	1
CORIN	99.89	1
LRP5	99.95	1
LTBP2	99.97	1
MAFB	100.00	1
MAN2B1	99.99	1
MAN2C1	99.96	1
MAP3K7	99.33	1
MASP1	99.99	1
MATN3	99.97	1
MBTPS2	99.81	1
MEGF8	99.90	1
MEOX1	99.99	1
MESP2	99.99	1
MGP	99.95	1
MIA2	99.72	1
MIA3	99.84	1
MKKS	100.00	1
MKS1	99.92	1
MMP13	99.96	1
MMP2	99.96	1
MMP9	100.00	1
MNX1	99.83	1
MPDU1	99.97	1
MSX2	100.00	1
MTX2	99.20	1
MYCN	100.00	1
MYL11	99.85	1
NAGLU	100.00	1
NANS	100.00	1
NBAS	99.86	1
NEK1	99.83	1
NEU1	99.98	1
NF1	99.88	1
NFIX	99.99	1
NIPBL	99.34	1
NKX3-2	99.99	1
NLRP3	100.00	1
NOG	100.00	1
NOTCH1	99.98	1
NOTCH2	99.03	1
NPPC	100.00	1
NPRL2	99.99	1
NSD1	99.98	1
NSDHL	99.87	1
NXN	99.92	1
OBSL1	100.00	1
OFD1	99.68	1
SLC25A15	99.70	1
ORC4	99.70	1
ORC6	99.82	1
OSTM1	99.56	1
P3H1	99.89	1
P4HB	99.99	1
PAM16	100.00	1
PAN2	99.95	1
PAPSS2	99.91	1
PAX3	100.00	1
PCNT	99.97	1
PCYT1A	100.00	1
PDE3A	99.97	1
PDE4D	99.89	1
PEX5	99.89	1
PEX7	99.72	1
PGM3	99.94	1
PHEX	99.83	1
PHGDH	99.79	1
PIGT	99.95	1
PIGV	100.00	1
PIK3C2A	99.92	1
PIK3CA	99.74	1
PISD	100.00	1
PITX1	100.00	1
PLEKHM1	99.77	1
PLOD2	99.66	1
PLS3	99.75	1
POC1A	99.98	1
POLR1A	99.93	1
POLR1C	100.00	1
POLR1D	100.00	1
BVES	99.94	1
PORCN	99.98	1
PPIB	100.00	1
PRKAR1A	100.00	1
PRKG2	99.75	1
PRMT7	99.95	1
PSAT1	99.98	1
PSPH	99.09	1
PTDSS1	99.95	1
PTH1R	99.93	1
PTHLH	99.89	1
PTPN11	99.98	1
PUF60	100.00	1
PYCR1	99.99	1
RAB23	99.97	1
RAB33B	100.00	1
RAD21	99.91	1
RASGRP2	100.00	1
RBM8A	99.37	1
RBPJ	99.96	1
RECQL4	100.00	1
RFT1	99.79	1
RIN1	100.00	1
RNU4ATAC	99.95	1
ROR2	99.99	1
RPGRIP1L	96.35	1
RPL13	99.96	1
RUNX2	100.00	1
SALL1	100.00	1
SALL4	100.00	1
SBDS	99.93	1
SCARF2	99.94	1
SCUBE3	99.96	1
SEC24D	99.94	1
SERPINF1	100.00	1
SERPINH1	100.00	1
SETD2	99.91	1
SF3B4	99.65	1
SFRP4	99.99	1
SGSH	100.00	1
SH3BP2	100.00	1
SH3PXD2B	100.00	1
SHH	100.00	1
SHOX	92.70	1
HHAT	99.98	1
SLC10A7	99.95	1
SLC17A5	99.71	1
SLC26A2	100.00	1
SLC29A3	99.98	1
SLC34A1	99.99	1
SLC34A3	100.00	1
SLC35C1	100.00	1
SLC35D1	87.50	1
SLC39A13	99.98	1
SLCO2A1	99.99	1
SLCO5A1	99.98	1
SMAD3	99.99	1
SMAD4	99.97	1
SMARCAL1	99.97	1
SMC1A	99.98	1
SMC3	99.91	1
SMO	99.99	1
SMOC1	100.00	1
SNRPB	99.96	1
SNX10	99.96	1
SOST	100.00	1
SOX9	100.00	1
SP7	100.00	1
SPARC	99.94	1
SUCO	98.05	1
SULF1	99.99	1
SUMF1	99.95	1
TALDO1	100.00	1
TAPT1	99.64	1
TBCE	99.91	1
TBX15	99.81	1
TBX3	100.00	1
TBX4	99.96	1
TBX5	99.98	1
TBX6	99.99	1
TBXAS1	100.00	1
TCF12	99.97	1
TCIRG1	99.99	1
TCOF1	99.99	1
TCTN2	99.99	1
TCTN3	99.92	1
TENT5A	99.97	1
TERT	100.00	1
TGFB1	100.00	1
TGFB2	99.87	1
TGFBR1	99.94	1
TGFBR2	99.98	1
THPO	100.00	1
TMEM165	99.97	1
TMEM216	99.98	1
TMEM231	88.88	1
TMEM38B	99.95	1
TMEM67	99.69	1
TNFRSF11A	100.00	1
TNFRSF11B	100.00	1
TNFSF11	99.89	1
TONSL	100.00	1
TP63	99.97	1
TRAPPC2	99.41	1
TREM2	100.00	1
TRIP11	99.90	1
TRPS1	100.00	1
TRPV4	100.00	1
TRPV6	99.99	1
TTC21B	99.50	1
TTC8	99.67	1
TWIST1	100.00	1
TYROBP	99.95	1
VDR	99.86	1
VPS35L	99.07	1
WDPCP	99.87	1
WDR19	99.80	1
WDR35	99.92	1
WNT1	99.97	1
WNT10B	99.97	1
WNT3	99.99	1
WNT3A	100.00	1
WNT5A	100.00	1
WNT7A	99.99	1
XRCC4	99.89	1
XYLT1	99.98	1
XYLT2	99.97	1
ZMPSTE24	98.70	1
ZSWIM6	98.94	1