NARS2 | Belgian Genetic Tests database

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Name:	asparaginyl-tRNA synthetase 2, mitochondrial
Symbol:	NARS2
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	FLJ23441 SLM5 asparagine tRNA ligase 2, mitochondrial (putative)
XREF(s):	Orphanet Ensembl HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	26 Oct 2023 - 23:49

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Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
AARS1	100.00	No comment
AARS2	99.75	No comment
AASS	100.00	No comment
ABAT	100.00	No comment
ABCB1	100.00	No comment
ABCC8	100.00	No comment
ABCD1	97.56	No comment
ACADM	99.87	No comment
ACADS	97.51	No comment
ACADSB	100.00	No comment
ACO2	100.00	No comment
ACOX1	100.00	No comment
ACSF3	99.86	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
COQ8A	99.92	No comment
ADK	100.00	No comment
ADRA2B	100.00	No comment
ADSL	100.00	No comment
AFG3L2	94.80	No comment
AGA	100.00	No comment
AGTR2	100.00	No comment
AHI1	100.00	No comment
AIFM1	99.98	No comment
AIMP1	99.97	No comment
AKT2	100.00	No comment
AKT3	100.00	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.94	No comment
ALDH4A1	96.50	No comment
ALDH5A1	84.13	No comment
ALDH7A1	100.00	No comment
ALG1	78.28	No comment
ALG11	100.00	No comment
ALG12	100.00	No comment
ALG13	99.53	No comment
ALG2	99.83	No comment
ALG3	93.20	No comment
ALG6	100.00	No comment
ALG8	100.00	No comment
ALG9	98.18	No comment
ALMS1	99.85	No comment
AMACR	96.78	No comment
AMER1	99.97	No comment
AMT	100.00	No comment
ANKH	100.00	No comment
ANKRD11	100.00	No comment
AP3B2	98.68	No comment
AP4E1	99.99	No comment
APTX	99.96	No comment
AR	100.00	No comment
ARFGEF2	100.00	No comment
ARG1	100.00	No comment
ARHGEF15	100.00	No comment
ARHGEF9	99.92	No comment
ARID1A	97.21	No comment
ARID1B	98.17	No comment
ARL13B	99.98	No comment
ARSA	100.00	No comment
SLURP1	87.81	No comment
ARV1	100.00	No comment
ARX	88.86	No comment
ASAH1	100.00	No comment
ASL	99.96	No comment
ASNS	97.93	No comment
ASPA	100.00	No comment
ASPM	100.00	No comment
ASS1	98.12	No comment
ASXL1	99.93	No comment
ATAD1	100.00	No comment
ATIC	97.39	No comment
ATN1	99.99	No comment
ATP13A2	98.30	No comment
ATP1A2	99.94	No comment
ATP1A3	100.00	No comment
ATP2A2	100.00	No comment
ATP5F1A	99.63	No comment
ATP6AP2	98.57	No comment
ATP6V0A2	99.97	No comment
ATP7A	100.00	No comment
ATPAF2	100.00	No comment
ANTXR1	99.97	No comment
ATRX	99.89	No comment
ATXN10	98.19	No comment
ATXN2	93.25	No comment
AUH	99.24	No comment
AVPR2	99.37	No comment
B3GALNT2	92.96	No comment
B3GNT2	100.00	No comment
B4GALT1	100.00	No comment
BCAP31	99.81	No comment
BCKDHA	99.90	No comment
BCKDHB	100.00	No comment
BCKDK	100.00	No comment
BCS1L	100.00	No comment
BOLA3	80.60	No comment
BRAF	96.83	No comment
BRAT1	99.93	No comment
BRD2	94.60	No comment
BSCL2	100.00	No comment
BTD	100.00	No comment
BUB1B	100.00	No comment
TWNK	100.00	No comment
C12ORF57	100.00	No comment
MTRFR	100.00	No comment
CPLANE1	100.00	No comment
CACNA1A	99.53	No comment
CACNA1D	99.81	No comment
CACNA1G	99.97	No comment
CACNA1H	98.10	No comment
CACNA2D1	100.00	No comment
CACNA2D2	95.58	No comment
CACNB4	99.95	No comment
CAD	100.00	No comment
CARS2	98.73	No comment
KNL1	97.89	No comment
CASK	99.99	No comment
CASQ2	99.96	No comment
CASR	100.00	No comment
CBL	100.00	No comment
CBS	99.85	No comment
CC2D2A	100.00	No comment
CCBE1	99.32	No comment
CCDC88C	99.64	No comment
CCL2	100.00	No comment
CCM2	99.47	No comment
CDK5RAP2	100.00	No comment
CDKL5	99.77	No comment
CDON	100.00	No comment
CELSR1	95.69	No comment
CENPJ	100.00	No comment
CEP135	99.96	No comment
CEP152	100.00	No comment
CEP164	99.89	No comment
CEP290	100.00	No comment
CEP41	100.00	No comment
CEP63	100.00	No comment
CERS1	87.45	No comment
CHD2	100.00	No comment
CHD8	100.00	No comment
CHKB	99.75	No comment
CHMP1A	100.00	No comment
CHRNA2	99.99	No comment
CHRNA4	94.66	No comment
CHRNA7	97.02	No comment
CHRNB2	99.44	No comment
CIC	99.22	No comment
CLCN1	100.00	No comment
CLCN2	100.00	No comment
CLCN4	100.00	No comment
CLCNKA	99.99	No comment
CLCNKB	99.96	No comment
CLDN16	100.00	No comment
CLIC2	99.96	No comment
CLN3	100.00	No comment
CLN5	98.80	No comment
CLN6	100.00	No comment
CLN8	100.00	No comment
CLPP	97.95	No comment
CNKSR2	99.82	No comment
CNNM2	100.00	No comment
CNTN2	100.00	No comment
CNTNAP2	99.10	No comment
COA5	100.00	No comment
COG1	99.01	No comment
COG4	100.00	No comment
COG5	99.95	No comment
COG6	100.00	No comment
COG7	100.00	No comment
COG8	99.96	No comment
COL18A1	99.86	No comment
COL4A1	98.48	No comment
COL4A2	100.00	No comment
COQ2	99.66	No comment
COQ4	100.00	No comment
COQ6	100.00	No comment
COQ9	100.00	No comment
COX10	100.00	No comment
COX14	100.00	No comment
COX15	99.99	No comment
COX20	95.39	No comment
COX6B1	100.00	No comment
COX8A	100.00	No comment
CYP2A6	100.00	No comment
CYP21A2	100.00	No comment
CPT1A	100.00	No comment
CPT2	98.55	No comment
CRH	99.37	No comment
CRLF1	89.19	No comment
CSNK1G1	100.00	No comment
CSPP1	99.98	No comment
CSTB	98.75	No comment
CTC1	99.70	No comment
CTSA	99.94	No comment
CTSD	93.41	No comment
CTSF	90.14	No comment
CUL4B	99.51	No comment
CYP27A1	99.38	No comment
CYP27B1	99.05	No comment
D2HGDH	99.95	No comment
DARS2	100.00	No comment
DBT	100.00	No comment
DCHS1	99.86	No comment
DCX	99.94	No comment
DDC	100.00	No comment
DDOST	100.00	No comment
DDX3X	100.00	No comment
DENND5A	99.04	No comment
DEPDC5	100.00	No comment
DHCR24	98.73	No comment
DHCR7	99.97	No comment
DHFR	91.86	No comment
DIAPH1	99.95	No comment
DLD	100.00	No comment
DLGAP2	99.95	No comment
DMD	99.96	No comment
DNAJC5	100.00	No comment
DNAJC6	99.98	No comment
DNM1	93.52	No comment
DNM1L	100.00	No comment
DOCK6	99.15	No comment
DOCK7	98.80	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
DPYD	100.00	No comment
DPYS	99.47	No comment
DYNC1H1	99.92	No comment
DYRK1A	100.00	No comment
EARS2	100.00	No comment
ECM1	100.00	No comment
EEF1A2	99.08	No comment
EFHC1	100.00	No comment
EFHC2	99.79	No comment
EFTUD2	99.99	No comment
EHMT1	97.78	No comment
EIF2B1	100.00	No comment
EIF2B2	99.61	No comment
EIF2B3	98.87	No comment
EIF2B4	100.00	No comment
EIF2B5	100.00	No comment
EIF2S3	100.00	No comment
ELOVL4	100.00	No comment
ELP4	100.00	No comment
EML1	98.26	No comment
EMX2	99.97	No comment
EOMES	100.00	No comment
EPG5	100.00	No comment
EPM2A	97.21	No comment
EPRS	100.00	No comment
ERBB4	100.00	No comment
ERLIN2	100.00	No comment
ERMARD	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
ETHE1	97.84	No comment
EXOC6B	99.94	No comment
EXOSC3	100.00	No comment
EZH2	100.00	No comment
FA2H	95.71	No comment
FADD	90.35	No comment
HYCC1	100.00	No comment
FARS2	100.00	No comment
FASN	99.95	No comment
FASTKD2	100.00	No comment
FAT4	100.00	No comment
FBXL4	100.00	No comment
FGD1	99.24	No comment
FGF12	99.90	No comment
FGF8	94.19	No comment
FGFR3	99.24	No comment
FH	100.00	No comment
FKRP	100.00	No comment
FKTN	100.00	No comment
FLNA	99.75	No comment
FLVCR2	99.87	No comment
FMR1	99.99	No comment
FOLR1	100.00	No comment
FOXG1	92.10	No comment
FOXH1	100.00	No comment
FOXRED1	100.00	No comment
FRRS1L	82.37	No comment
FTL	100.00	No comment
FTO	100.00	No comment
FUCA1	99.91	No comment
GABBR2	96.91	No comment
GABRA1	100.00	No comment
GABRA3	99.59	No comment
GABRB1	99.97	No comment
GABRB2	100.00	No comment
GABRB3	100.00	No comment
GABRD	92.59	No comment
GABRG2	91.70	No comment
GAL	100.00	No comment
GALC	98.98	No comment
GALNS	94.36	No comment
GAMT	97.00	No comment
GATA3	100.00	No comment
GATA6	87.61	No comment
GATAD2B	100.00	No comment
GATM	98.74	No comment
GBA1	100.00	No comment
GCDH	100.00	No comment
GCH1	99.71	No comment
GCK	99.13	No comment
GCM2	100.00	No comment
GCSH	73.97	No comment
GFAP	100.00	No comment
GFM1	100.00	No comment
GJC2	96.72	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GLDC	97.39	No comment
GLI2	96.28	No comment
GLI3	100.00	No comment
GLRA1	100.00	No comment
GLRB	100.00	No comment
GLUD1	96.22	No comment
GLUL	100.00	No comment
GLYCTK	98.86	No comment
GM2A	100.00	No comment
GMPPB	100.00	No comment
GNAO1	100.00	No comment
GNB1	100.00	No comment
GNE	100.00	No comment
GNPTAB	99.91	No comment
GNPTG	95.92	No comment
GNS	100.00	No comment
GOSR2	100.00	No comment
GPC3	99.72	No comment
GPHN	100.00	No comment
ADGRG1	99.99	No comment
ADGRV1	100.00	No comment
GRIA3	99.99	No comment
GRIN1	99.80	No comment
GRIN2A	100.00	No comment
GRIN2B	100.00	No comment
GRIN2D	77.00	No comment
GRINA	100.00	No comment
GRN	100.00	No comment
GSS	100.00	No comment
GTPBP3	99.60	No comment
GUF1	100.00	No comment
GUSB	97.13	No comment
HACE1	98.41	No comment
HADH	100.00	No comment
HAX1	100.00	No comment
HCCS	100.00	No comment
HCFC1	99.85	No comment
HCN1	99.93	No comment
HCN4	97.56	No comment
HDAC4	99.86	No comment
HDAC8	99.75	No comment
HEPACAM	99.85	No comment
HERC2	97.66	No comment
HESX1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HGSNAT	94.10	No comment
HLCS	100.00	No comment
HMBS	100.00	No comment
HMGCL	100.00	No comment
HNRNPH1	100.00	No comment
HNRNPH2	100.00	No comment
HNRNPU	99.82	No comment
HPD	100.00	No comment
HRAS	100.00	No comment
HSD17B10	100.00	No comment
HSD17B4	100.00	No comment
HSPD1	95.18	No comment
HTRA2	100.00	No comment
HYAL1	100.00	No comment
IDH2	93.11	No comment
IDS	99.88	No comment
IDUA	91.86	No comment
IER3IP1	99.44	No comment
ELP1	100.00	No comment
INPP5E	99.14	No comment
INS	97.76	No comment
INSR	96.68	No comment
IQSEC2	98.53	No comment
CRPPA	95.50	No comment
ITPA	100.00	No comment
IVD	100.00	No comment
JAM3	99.88	No comment
JRK	100.00	No comment
KANSL1	100.00	No comment
KAT6B	100.00	No comment
KCNA1	100.00	No comment
KCNA2	100.00	No comment
KCNAB1	100.00	No comment
KCNB1	98.34	No comment
KCNC1	100.00	No comment
KCND2	100.00	No comment
KCNH1	100.00	No comment
KCNH2	98.15	No comment
KCNH5	100.00	No comment
KCNJ1	100.00	No comment
KCNJ10	100.00	No comment
KCNJ11	100.00	No comment
KCNK18	100.00	No comment
KCNMA1	99.93	No comment
KCNQ2	99.92	No comment
KCNQ3	98.20	No comment
KCNT1	98.96	No comment
KCNV2	100.00	No comment
KCTD7	100.00	No comment
KDM5C	99.97	No comment
KDM6A	99.72	No comment
RUBCN	96.60	No comment
KIFBP	100.00	No comment
NEXMIF	100.00	No comment
KIF11	100.00	No comment
KIF2A	99.97	No comment
KIF4A	99.86	No comment
KIF5C	100.00	No comment
KIF7	99.64	No comment
KMT2B	98.33	No comment
KMT2D	99.98	No comment
KPTN	100.00	No comment
KRAS	100.00	No comment
KRIT1	100.00	No comment
L1CAM	99.98	No comment
L2HGDH	99.75	No comment
LAMA2	100.00	No comment
LAMB1	100.00	No comment
LAMC3	98.42	No comment
LARGE1	100.00	No comment
LBR	100.00	No comment
LGI1	100.00	No comment
LIAS	100.00	No comment
LIG1	99.86	No comment
LIG4	100.00	No comment
LMBRD1	100.00	No comment
LMNB2	95.84	No comment
LRFN1	99.79	No comment
LRFN2	100.00	No comment
LRFN3	99.92	No comment
LRFN4	98.83	No comment
LRFN5	100.00	No comment
LRP2	99.71	No comment
LRPPRC	98.80	No comment
MAGI2	94.89	No comment
MAGT1	100.00	No comment
MAN1B1	99.81	No comment
MAP2K1	100.00	No comment
MAP2K2	99.99	No comment
MAPK10	100.00	No comment
MBD5	100.00	No comment
MBOAT7	99.93	No comment
MBTPS2	100.00	No comment
MCCC1	99.77	No comment
MCOLN1	95.75	No comment
MCPH1	99.70	No comment
MDH2	94.63	No comment
ME2	100.00	No comment
MECP2	96.46	No comment
MED12	99.98	No comment
MED17	100.00	No comment
MEF2C	100.00	No comment
MFF	100.00	No comment
MFSD8	100.00	No comment
MGAT2	100.00	No comment
MGME1	100.00	No comment
MLC1	98.57	No comment
MLYCD	96.09	No comment
MMACHC	100.00	No comment
MMADHC	100.00	No comment
MOCS1	99.94	No comment
MOCS2	100.00	No comment
MOGS	98.86	No comment
MPDU1	100.00	No comment
MPDZ	100.00	No comment
MPI	100.00	No comment
MSX2	100.00	No comment
MTHFR	100.00	No comment
MTOR	100.00	No comment
MTR	100.00	No comment
MTRR	100.00	No comment
MMUT	99.99	No comment
MYO5A	99.67	No comment
NAA10	96.95	No comment
NACC1	100.00	No comment
NAGA	100.00	No comment
NAGLU	96.69	No comment
NALCN	100.00	No comment
NARS2	99.88	No comment
NDE1	100.00	No comment
NDP	100.00	No comment
NDUFA1	100.00	No comment
NDUFA10	96.45	No comment
NDUFA11	80.54	No comment
NDUFA12	100.00	No comment
NDUFA2	100.00	No comment
NDUFA9	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF3	100.00	No comment
NDUFAF4	99.26	No comment
NDUFAF5	99.96	No comment
NDUFAF6	95.61	No comment
NDUFB3	98.57	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	99.96	No comment
NDUFS6	100.00	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NDUFV2	100.00	No comment
NECAP1	100.00	No comment
NEDD4L	98.66	No comment
NEU1	100.00	No comment
NF1	98.78	No comment
NFIX	94.60	No comment
NGLY1	99.96	No comment
NHEJ1	100.00	No comment
NHLRC1	96.01	No comment
NIN	100.00	No comment
NIPA2	100.00	No comment
NIPBL	99.48	No comment
NLGN4X	100.00	No comment
NLGN4Y	60.20	No comment
NODAL	99.87	No comment
NOTCH3	93.46	No comment
NPC1	97.50	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NPRL2	100.00	No comment
NPRL3	100.00	No comment
NRAS	100.00	No comment
NRXN1	99.87	No comment
NSD1	100.00	No comment
NSDHL	100.00	No comment
NUBPL	99.92	No comment
OCLN	100.00	No comment
OCRL	98.81	No comment
OFD1	97.13	No comment
OPHN1	99.94	No comment
OTC	99.17	No comment
OTX2	100.00	No comment
PACS2	99.96	No comment
PAFAH1B1	100.00	No comment
PAH	100.00	No comment
PAK3	98.75	No comment
PANK2	100.00	No comment
PAX6	100.00	No comment
PODXL	100.00	No comment
PCBD1	85.60	No comment
PCCA	99.94	No comment
PCCB	99.54	No comment
PCDH19	98.99	No comment
PCNT	99.88	No comment
PDCD10	100.00	No comment
PDE6D	100.00	No comment
PDGFB	97.18	No comment
PDGFRB	99.98	No comment
PDHA1	92.64	No comment
PDHX	100.00	No comment
PDP1	100.00	No comment
PDSS1	85.11	No comment
PDSS2	100.00	No comment
PET100	100.00	No comment
PEX1	100.00	No comment
PEX10	87.10	No comment
PEX11B	100.00	No comment
PEX12	100.00	No comment
PEX13	100.00	No comment
PEX14	99.31	No comment
PEX16	99.97	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	99.74	No comment
PEX7	95.60	No comment
PGAP2	100.00	No comment
PGAP3	98.48	No comment
PGK1	99.88	No comment
PGM1	100.00	No comment
PHF6	100.00	No comment
PHGDH	100.00	No comment
PIGA	98.95	No comment
PIGL	100.00	No comment
PIGM	100.00	No comment
PIGN	100.00	No comment
PIGO	100.00	No comment
PIGP	100.00	No comment
PIGQ	100.00	No comment
PIGT	100.00	No comment
PIGV	100.00	No comment
PIK3AP1	99.71	No comment
PIK3CA	100.00	No comment
PIK3R2	88.52	No comment
PLA2G6	100.00	No comment
PLCB1	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PNKP	99.84	No comment
PNPO	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMC	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
PPFIA1	100.00	No comment
PPFIA2	100.00	No comment
PPFIA3	96.20	No comment
PPFIA4	100.00	No comment
PPFIBP1	100.00	No comment
PPFIBP2	100.00	No comment
PPP2R2C	99.91	No comment
PPT1	100.00	No comment
PQBP1	99.91	No comment
PRDM8	88.36	No comment
PRF1	100.00	No comment
PRICKLE1	100.00	No comment
PRICKLE2	100.00	No comment
PRODH	88.26	No comment
PLPBP	99.89	No comment
PRRT2	100.00	No comment
PSAP	100.00	No comment
PSAT1	99.61	No comment
PSPH	100.00	No comment
PTCH1	98.82	No comment
PTEN	99.45	No comment
PTH	100.00	No comment
PTPN11	94.43	No comment
PTS	99.91	No comment
PURA	95.47	No comment
QARS1	100.00	No comment
QDPR	98.39	No comment
RAB18	99.99	No comment
RAB27A	100.00	No comment
RAB39B	100.00	No comment
RAB3GAP1	100.00	No comment
RAB3GAP2	100.00	No comment
RAD21	100.00	No comment
RAF1	100.00	No comment
RAI1	93.59	No comment
RANBP2	95.47	No comment
RANGAP1	100.00	No comment
RARS2	100.00	No comment
RBBP8	99.97	No comment
RBFOX1	98.87	No comment
RBFOX3	98.41	No comment
RELN	100.00	No comment
RFT1	99.87	No comment
RGMA	100.00	No comment
RHOBTB2	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2B	94.58	No comment
RNASEH2C	100.00	No comment
RNASET2	100.00	No comment
ROGDI	91.40	No comment
RORB	100.00	No comment
RPGRIP1L	96.40	No comment
RPIA	99.96	No comment
RRM2B	100.00	No comment
RTTN	99.98	No comment
RYR3	100.00	No comment
SAMHD1	100.00	No comment
SATB2	99.34	No comment
SCARB2	99.99	No comment
SCN10A	100.00	No comment
SCN1A	100.00	No comment
SCN1B	87.40	No comment
SCN2A	100.00	No comment
SCN2B	100.00	No comment
SCN3A	100.00	No comment
SCN3B	100.00	No comment
SCN4A	100.00	No comment
SCN4B	100.00	No comment
SCN5A	100.00	No comment
SCN8A	100.00	No comment
SCN9A	99.99	No comment
SCO2	93.85	No comment
SDHA	95.31	No comment
SDHAF1	90.31	No comment
SEPSECS	99.57	No comment
SERPINI1	100.00	No comment
SETBP1	100.00	No comment
SETD5	100.00	No comment
SGSH	99.85	No comment
SHANK3	90.31	No comment
SHH	99.47	No comment
SHOC2	100.00	No comment
SHROOM4	99.98	No comment
SIK1	100.00	No comment
SIX3	99.61	No comment
SLC12A5	99.86	No comment
SLC12A6	100.00	No comment
SLC13A5	100.00	No comment
SLC16A1	100.00	No comment
SLC16A2	99.97	No comment
SLC17A5	100.00	No comment
SLC19A3	99.90	No comment
SLC1A2	100.00	No comment
SLC1A3	100.00	No comment
SLC20A2	100.00	No comment
SLC25A1	98.83	No comment
SLC25A12	100.00	No comment
SLC25A15	100.00	No comment
SLC25A19	100.00	No comment
SLC25A20	100.00	No comment
SLC25A22	100.00	No comment
SLC2A1	100.00	No comment
SLC2A2	99.95	No comment
SLC35A1	100.00	No comment
SLC35A2	100.00	No comment
SLC35A3	100.00	No comment
SLC35C1	100.00	No comment
SLC3A2	90.78	No comment
SLC46A1	99.98	No comment
SLC4A10	99.99	No comment
SLC6A1	100.00	No comment
SLC6A19	99.98	No comment
SLC6A5	100.00	No comment
SLC6A8	99.41	No comment
SLC6A9	100.00	No comment
SLC9A6	99.66	No comment
SLC9A9	100.00	No comment
SMARCA1	98.12	No comment
SMARCA2	98.99	No comment
SMARCA4	100.00	No comment
SMARCB1	100.00	No comment
SMARCE1	98.46	No comment
SMC1A	99.87	No comment
SMC3	100.00	No comment
SMPD1	100.00	No comment
SNAP25	100.00	No comment
SNAP29	100.00	No comment
SNIP1	100.00	No comment
SOS1	100.00	No comment
SOX10	95.36	No comment
SOX2	95.35	No comment
SPRED1	100.00	No comment
SPTAN1	100.00	No comment
SRD5A3	98.61	No comment
SRGAP3	100.00	No comment
SRPX2	99.04	No comment
ST3GAL3	100.00	No comment
ST3GAL5	90.70	No comment
STAMBP	100.00	No comment
STIL	100.00	No comment
STRADA	100.00	No comment
STX1B	99.96	No comment
STXBP1	100.00	No comment
SUCLA2	99.86	No comment
SUCLG1	93.27	No comment
SUMF1	100.00	No comment
SUOX	100.00	No comment
SURF1	82.91	No comment
SYN1	96.00	No comment
SYNGAP1	99.76	No comment
SYNJ1	99.72	No comment
SYP	97.84	No comment
SZT2	99.99	No comment
TACO1	99.66	No comment
TBC1D20	95.06	No comment
TBC1D24	99.99	No comment
TBCE	100.00	No comment
TBL1XR1	100.00	No comment
TBX1	83.55	No comment
TCF4	100.00	No comment
TCF7L2	100.00	No comment
TCTN1	100.00	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TGIF1	100.00	No comment
TK2	100.00	No comment
TMEM138	100.00	No comment
TMEM165	91.64	No comment
TMEM216	99.87	No comment
TMEM231	100.00	No comment
TMEM237	99.85	No comment
RXYLT1	100.00	No comment
TMEM67	99.95	No comment
TMEM70	100.00	No comment
TNK2	99.86	No comment
ACD	99.99	No comment
TRAK1	100.00	No comment
TREM2	100.00	No comment
TREX1	100.00	No comment
TRPM6	100.00	No comment
TSC1	100.00	No comment
TSC2	99.94	No comment
TSEN2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	91.60	No comment
TTC21B	100.00	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TUBA1A	100.00	No comment
TUBA8	99.98	No comment
TUBB2A	100.00	No comment
TUBB2B	100.00	No comment
TUBB3	99.01	No comment
TUBB4A	100.00	No comment
TUBG1	100.00	No comment
TUSC3	100.00	No comment
TYROBP	100.00	No comment
UBA5	100.00	No comment
UBE2A	100.00	No comment
UBE3A	100.00	No comment
UBR5	100.00	No comment
UPB1	100.00	No comment
VANGL1	100.00	No comment
VARS1	100.00	No comment
VDAC1	95.12	No comment
VLDLR	96.00	No comment
VPS13A	100.00	No comment
VPS13B	100.00	No comment
VPS53	100.00	No comment
VRK1	100.00	No comment
WDR45	100.00	No comment
WDR45B	99.94	No comment
WDR62	100.00	No comment
WFS1	100.00	No comment
WWOX	100.00	No comment
XK	99.44	No comment
YWHAG	100.00	No comment
ZBTB18	99.54	No comment
ZC4H2	100.00	No comment
ZDHHC9	100.00	No comment
ZEB2	99.96	No comment
ZIC2	95.66	No comment
ZNF335	100.00	No comment
ZNF423	100.00	No comment

Hearing loss (deafness) (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABHD12	99.11	1
ACTG1	100.00	1
ADCY1	98.44	1
ADGRV1	99.88	1
AIFM1	99.43	1
ATOH1	100.00	1
ATP11A	99.99	1
ATP2B2	99.96	1
ATP6V0A4	99.83	1
ATP6V1B1	99.92	1
ATP6V1B2	99.91	1
BDP1	99.89	1
BSND	100.00	1
CABP2	99.99	1
CACNA1D	99.94	1
CCDC50	99.92	1
CD164	99.92	1
CDC14A	99.95	1
CDH23	99.95	1
CEACAM16	99.92	1
CEP250	99.98	1
CEP78	99.83	1
CHD7	99.96	1
CIB2	99.99	1
CISD2	99.95	1
CLDN14	100.00	1
CLIC5	99.98	1
CLPP	100.00	1
CLRN1	99.97	1
COCH	99.90	1
COL11A1	99.89	1
COL11A2	99.35	1
COL2A1	100.00	1
COL4A3	99.94	1
COL4A4	99.96	1
COL4A5	99.18	1
COL4A6	99.37	1
COL9A1	99.98	1
COL9A2	99.95	1
COL9A3	99.86	1
CRYL1	99.89	1
CRYM	99.91	1
DCDC2	99.93	1
DIABLO	99.98	1
DIAPH1	97.50	1
DIAPH3	99.86	1
DMXL2	99.40	1
DNAAF10	99.97	1
EDN3	100.00	1
EDNRB	99.94	1
ELMOD3	100.00	1
EPHA10	97.51	1
EPS8	99.87	1
EPS8L2	99.87	1
ERAL1	99.97	1
ESPN	96.05	1
ESRP1	99.81	1
ESRRB	100.00	1
EYA1	99.93	1
EYA4	99.98	1
FDXR	99.98	1
FGF3	98.11	1
FOXI1	100.00	1
GATA3	99.89	1
GIPC3	97.45	1
GJB2	100.00	1
GJB3	100.00	1
GJB6	100.00	1
GPSM2	99.94	1
GRHL2	99.95	1
GRXCR1	100.00	1
GRXCR2	99.91	1
GSDME	99.97	1
HARS1	99.99	1
HARS2	99.51	1
HECTD3	99.39	1
HGF	99.96	1
HOMER2	99.74	1
HOXA2	99.93	1
HSD17B4	99.80	1
IFNLR1	99.52	1
ILDR1	99.95	1
KARS1	99.91	1
KCNE1	100.00	1
KCNJ10	100.00	1
KCNQ1	99.87	1
KCNQ4	99.49	1
KITLG	99.87	1
LARS2	99.99	1
LHFPL5	99.99	1
LMX1A	100.00	1
LOXHD1	99.73	1
LRTOMT	99.99	1
MARVELD2	99.96	1
MCM2	99.96	1
MET	99.97	1
MIR96	100.00	1
MITF	99.97	1
MPZL2	99.96	1
MSRB3	99.96	1
MTAP	98.96	1
MYH14	99.79	1
MYH9	100.00	1
MYO15A	99.59	1
MYO3A	99.84	1
MYO6	99.77	1
MYO7A	99.99	1
NARS2	99.94	1
NDP	99.95	1
NLRP3	99.90	1
OSBPL2	100.00	1
OTOA	99.83	1
OTOF	99.95	1
OTOG	99.99	1
OTOGL	99.63	1
P2RX2	99.91	1
PAX3	99.98	1
PCDH15	99.94	1
PDE1C	99.92	1
PDZD7	99.82	1
PI4KB	99.55	1
PJVK	99.79	1
PLS1	99.80	1
PNPT1	99.86	1
POLR1B	99.95	1
POLR1C	97.52	1
POLR1D	99.72	1
POU3F4	99.94	1
POU4F3	100.00	1
PPIP5K2	99.83	1
PRPS1	99.79	1
PTPRQ	99.83	1
RDX	99.80	1
REST	99.96	1
RIPOR2	99.96	1
ROR1	98.58	1
S1PR2	100.00	1
SALL1	99.99	1
SEMA3E	99.97	1
SERPINB6	98.21	1
SIX1	100.00	1
SIX5	99.87	1
SLC12A2	98.96	1
SLC17A8	99.95	1
SLC22A4	99.96	1
SLC26A4	99.95	1
SLC26A5	99.95	1
SLC4A11	99.99	1
SLC7A8	99.99	1
SLITRK6	100.00	1
SMPX	99.37	1
SNAI2	99.98	1
SOX10	100.00	1
SPATC1L	100.00	1
SSBP1	99.99	1
STRC	99.73	1
SYNE4	100.00	1
TBC1D24	99.97	1
TCOF1	99.96	1
TECTA	99.97	1
THRAP3	99.89	1
TIMM8A	99.78	1
TJP2	99.94	1
TMC1	99.83	1
TMEM132E	99.75	1
TMIE	99.95	1
TMPRSS3	99.95	1
TMTC2	99.96	1
TNC	99.97	1
TPRN	90.56	1
TRIOBP	99.09	1
TSPEAR	99.97	1
TWNK	100.00	1
USH1C	98.72	1
USH1G	99.96	1
USH2A	99.95	1
USP48	99.80	1
WBP2	99.86	1
WFS1	100.00	1
WHRN	99.69	1

Hearing loss (deafness) syndromic (59 genes) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ATP6V0A4
ATP6V1B1
BSND
CDH23
CHD7
CISD2
CLPP
CLRN1
COL11A1
COL11A2
COL2A1
COL4A3
COL4A4
COL4A5
COL9A1
COL9A2
COL9A3
WHRN
DIAPH1
EDN3
EDNRB
ERAL1
EYA1
ADGRV1
HARS1
HARS2
HSD17B4
KCNE1
KCNQ1
KITLG
LARS2
MITF
MT-RNR1
MT-TL1
MT-TS1
MYH9
MYO7A
NARS2
NDP
NLRP3
PAX3
PCDH15
PDZD7
TWNK
POLR1C
POLR1D
SEMA3E
SIX1
SIX5
SLC26A4
SLITRK6
SNAI2
SOX10
TBC1D24
TCOF1
USH1C
USH1G
USH2A
WFS1

Intellectual disability & Epilepsy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AAAS	99.88	1
AARS1	99.99	1
AASS	99.61	1
ABAT	99.98	1
ABCA2	100.00	1
ABCC8	99.98	1
ABCC9	99.92	1
ABCD1	99.98	1
ABCD4	100.00	1
ABHD16A	100.00	1
ABHD5	99.98	1
ACAD9	100.00	1
ACADM	96.14	1
ACADS	99.99	1
ACADSB	99.93	1
ACAT1	99.81	1
ACO2	99.99	1
ACOX1	99.98	1
ACSF3	99.99	1
ACSL4	99.59	1
ACTB	100.00	1
ACTG1	100.00	1
ACTL6A	99.74	1
ACTL6B	99.90	1
ACVR1	99.94	1
ACY1	100.00	1
ADAM22	99.15	1
ADAR	99.84	1
ADARB1	94.29	1
ADAT3	100.00	1
ADD3	99.95	1
ADGRG1	99.90	1
ADGRL1	99.98	1
ADGRL2	98.18	1
ADK	99.78	1
ADNP	100.00	1
ADPRS	99.94	1
ADSL	99.93	1
AFF2	99.89	1
AFF3	99.63	1
AFF4	99.94	1
AFG3L2	99.97	1
AGA	99.92	1
AGO1	99.73	1
AGO2	99.97	1
AGPAT2	100.00	1
AGTPBP1	99.68	1
AHCY	100.00	1
AHDC1	100.00	1
AHI1	99.86	1
AIFM1	99.92	1
AIMP1	99.97	1
AIMP2	99.99	1
AK1	100.00	1
AKT3	99.81	1
ALDH18A1	99.96	1
ALDH3A2	99.95	1
ALDH4A1	98.97	1
ALDH5A1	96.19	1
ALDH7A1	99.49	1
ALG1	86.66	1
ALG11	99.99	1
ALG12	100.00	1
ALG13	99.44	1
ALG14	99.34	1
ALG2	100.00	1
ALG3	99.96	1
ALG6	93.37	1
ALG8	95.49	1
ALG9	99.73	1
ALKBH8	99.98	1
ALMS1	99.90	1
ALPL	99.88	1
ALX1	97.99	1
ALX4	100.00	1
AMACR	100.00	1
AMER1	100.00	1
AMMECR1	99.87	1
AMPD2	99.91	1
AMT	100.00	1
ANK2	99.98	1
ANK3	99.79	1
ANKLE2	99.99	1
ANKRD11	99.85	1
ANKRD17	99.92	1
ANO10	99.93	1
ANTXR1	99.83	1
AP1G1	99.95	1
AP1S1	99.49	1
AP1S2	99.56	1
AP2M1	99.69	1
AP3B1	99.89	1
AP3B2	100.00	1
AP3D1	100.00	1
AP4B1	96.92	1
AP4E1	99.94	1
AP4M1	99.98	1
AP4S1	87.89	1
AP5Z1	100.00	1
APC2	99.98	1
APTX	99.92	1
ARCN1	99.92	1
ARF1	99.99	1
ARFGEF1	99.86	1
ARFGEF2	99.99	1
ARG1	99.95	1
ARHGAP31	100.00	1
ARHGEF9	99.89	1
ARID1A	99.83	1
ARID1B	99.69	1
ARID2	99.48	1
ARL13B	99.53	1
ARL6	99.90	1
ARMC9	99.77	1
ARSA	99.99	1
ARSL	99.93	1
ARV1	99.85	1
ARX	95.36	1
ASAH1	99.90	1
ASH1L	99.79	1
ASL	99.98	1
ASNS	99.63	1
ASPA	99.98	1
ASPM	99.57	1
ASS1	77.52	1
ASXL1	100.00	1
ASXL2	99.82	1
ASXL3	99.99	1
ATAD1	99.85	1
ATAD3A	99.62	1
ATCAY	100.00	1
ATG7	99.90	1
ATIC	99.86	1
ATL1	99.95	1
ATM	99.83	1
ATN1	99.90	1
ATP13A2	99.96	1
ATP1A1	98.41	1
ATP1A2	99.85	1
ATP1A3	99.98	1
ATP2A2	99.98	1
ATP2B1	99.39	1
ATP6AP2	99.55	1
ATP6V0A1	99.85	1
ATP6V0A2	99.92	1
ATP6V1A	99.73	1
ATP6V1B2	99.99	1
ATP7A	99.87	1
ATP8A2	100.00	1
ATP9A	99.99	1
ATPAF2	99.96	1
ATRX	99.44	1
ATXN2	99.88	1
AUH	99.95	1
AUTS2	99.87	1
AVPR2	100.00	1
B3GALNT2	92.79	1
B3GALT6	100.00	1
B3GLCT	99.90	1
B4GALNT1	99.97	1
B4GALT1	99.97	1
B4GALT7	99.99	1
B4GAT1	100.00	1
B9D1	99.80	1
B9D2	99.88	1
BAZ2B	99.63	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
BCAP31	99.95	1
BCAS3	99.31	1
BCKDHA	99.97	1
BCKDHB	99.73	1
BCKDK	99.99	1
BCL11A	99.93	1
BCL11B	100.00	1
BCOR	99.97	1
BCORL1	99.99	1
BCS1L	99.99	1
BICD2	99.99	1
BICRA	99.99	1
BLM	99.80	1
BLOC1S1	99.95	1
BMP4	100.00	1
BOLA3	99.22	1
BPTF	99.84	1
BRAF	99.78	1
BRAT1	100.00	1
BRD4	99.98	1
BRF1	100.00	1
BRPF1	100.00	1
BRSK2	99.98	1
BRWD3	99.40	1
BSCL2	99.99	1
BTD	100.00	1
BUB1B	100.00	1
C12ORF4	99.93	1
C12ORF57	100.00	1
C2CD3	99.88	1
CA2	99.62	1
CA5A	99.99	1
CA8	99.71	1
CACNA1A	98.16	1
CACNA1B	100.00	1
CACNA1C	100.00	1
CACNA1D	99.98	1
CACNA1E	99.82	1
CACNA1G	99.95	1
CACNA1H	100.00	1
CACNA1I	99.98	1
CACNA2D1	97.12	1
CACNA2D2	99.99	1
CACNB4	99.20	1
CACNG2	99.99	1
CAD	99.86	1
CAMK2A	99.99	1
CAMK2B	99.92	1
CAMK2G	99.95	1
CAMK4	99.78	1
CAMTA1	99.97	1
CAPN10	99.99	1
CAPN15	99.98	1
CARS1	99.99	1
CARS2	99.99	1
CASK	98.95	1
CBL	99.95	1
CBS	17.79	1
CC2D1A	99.98	1
CC2D2A	99.95	1
CCBE1	99.52	1
CCDC115	99.90	1
CCDC174	99.98	1
CCDC22	99.91	1
CCDC47	99.97	1
CCDC88A	99.48	1
CCDC88C	100.00	1
CCM2	99.93	1
CCND2	100.00	1
CCNK	99.93	1
CDC42	98.05	1
CDC42BPB	99.99	1
CDH11	99.94	1
CDH15	99.98	1
CDH2	99.84	1
CDK10	99.98	1
CDK13	99.83	1
CDK19	99.26	1
CDK5RAP2	99.97	1
CDK6	99.47	1
CDK8	99.81	1
CDKL5	99.88	1
CDKN1C	100.00	1
CDON	99.99	1
CELF2	99.99	1
CELSR3	99.99	1
CENPF	99.97	1
CENPJ	99.92	1
CEP104	99.99	1
CEP120	99.90	1
CEP135	99.82	1
CEP152	99.93	1
CEP290	98.10	1
CEP41	99.99	1
CEP55	99.92	1
CEP57	99.92	1
CEP63	94.73	1
CEP83	98.68	1
CEP85L	100.00	1
CERS1	100.00	1
CERT1	99.66	1
CHAMP1	99.99	1
CHD1	99.46	1
CHD2	99.97	1
CHD3	99.06	1
CHD4	99.99	1
CHD5	99.97	1
CHD7	99.99	1
CHD8	99.96	1
CHKB	100.00	1
CHMP1A	100.00	1
CHRNA2	99.98	1
CHRNA4	100.00	1
CHRNB2	99.99	1
CIC	98.32	1
CILK1	99.69	1
CIT	99.99	1
CKAP2L	99.54	1
CLCN3	99.95	1
CLCN4	99.98	1
CLCNKB	99.98	1
CLDN11	100.00	1
CLDN16	99.98	1
CLDN19	99.02	1
CLIC2	99.82	1
CLN3	99.92	1
CLN5	100.00	1
CLN6	100.00	1
CLN8	100.00	1
CLP1	99.98	1
CLPB	99.97	1
CLTC	99.56	1
CNKSR2	99.54	1
CNNM2	99.94	1
CNOT1	99.83	1
CNOT2	99.00	1
CNOT3	99.99	1
CNPY3	99.98	1
CNTN2	99.95	1
CNTNAP1	99.98	1
CNTNAP2	99.99	1
COA8	99.94	1
COASY	99.98	1
COG1	100.00	1
COG4	99.96	1
COG5	99.92	1
COG6	99.86	1
COG7	99.74	1
COG8	100.00	1
COL18A1	99.99	1
COL4A1	99.99	1
COL4A2	99.98	1
COLEC11	100.00	1
COPB1	99.87	1
COPB2	99.83	1
COQ2	99.90	1
COQ4	100.00	1
COQ5	99.95	1
COQ8A	100.00	1
COQ9	99.62	1
COX10	99.99	1
COX15	100.00	1
COX6B1	100.00	1
CYP2A6	99.99	1
CPE	99.93	1
CPLANE1	99.81	1
CPLX1	100.00	1
CYP21A2	99.91	1
CPSF3	99.93	1
CPT2	99.65	1
CRADD	99.90	1
CRB2	99.95	1
CRBN	99.97	1
CREBBP	99.97	1
CRH	100.00	1
CRLF1	99.99	1
CRPPA	99.98	1
CSDE1	97.17	1
CSNK1G1	99.95	1
CSNK2A1	99.96	1
CSNK2B	99.65	1
CSPP1	98.31	1
CSTB	100.00	1
CTBP1	99.98	1
CTC1	100.00	1
CTCF	99.87	1
CTDP1	99.97	1
CTNNA2	99.84	1
CTNNB1	99.95	1
CTNND1	99.92	1
CTNND2	99.97	1
CTSA	99.98	1
CTSD	100.00	1
CTSF	99.96	1
CTU2	99.91	1
CUBN	99.99	1
CUL3	99.76	1
CUL4B	99.67	1
CUX1	99.37	1
CUX2	99.96	1
CWC27	99.67	1
CWF19L1	99.91	1
CYB5R3	99.93	1
CYC1	99.86	1
CYFIP2	100.00	1
CYP27A1	100.00	1
CYP2U1	99.99	1
D2HGDH	100.00	1
DAG1	100.00	1
DARS1	98.85	1
DARS2	98.31	1
DBT	94.51	1
DCAF17	99.84	1
DCC	99.96	1
DCHS1	100.00	1
DCPS	99.98	1
DCX	99.99	1
DDB1	99.96	1
DDC	99.67	1
DDHD2	99.97	1
DDX11	99.74	1
DDX23	99.94	1
DDX3X	99.01	1
DDX59	99.67	1
DDX6	99.88	1
DEAF1	99.90	1
DEGS1	99.99	1
DENND5A	99.99	1
DEPDC5	99.18	1
DHCR24	99.93	1
DHCR7	99.97	1
DHDDS	98.65	1
DHFR	98.89	1
DHPS	93.17	1
DHTKD1	99.95	1
DHX16	99.98	1
DHX30	99.96	1
DHX37	99.98	1
DIAPH1	99.95	1
DIS3L2	99.90	1
DKC1	99.59	1
DLAT	99.65	1
DLD	99.89	1
DLG3	99.96	1
DLG4	99.99	1
DLL1	99.99	1
DMD	99.76	1
DMPK	99.93	1
DMXL2	99.86	1
DNAJC12	99.72	1
DNAJC19	99.76	1
DNAJC5	99.99	1
DNM1	92.28	1
DNM1L	99.40	1
DNMT3A	100.00	1
DNMT3B	99.98	1
DOCK3	99.96	1
DOCK6	100.00	1
DOCK7	94.41	1
DOCK8	99.86	1
DOLK	100.00	1
DONSON	99.99	1
DPAGT1	100.00	1
DPF2	99.99	1
DPH1	100.00	1
DPM1	90.68	1
DPM2	100.00	1
DPP6	99.99	1
DPYD	94.53	1
DPYS	99.99	1
DPYSL5	99.93	1
DSCAM	99.99	1
DYM	99.96	1
DYNC1H1	99.99	1
DYNC1I2	98.97	1
DYRK1A	99.98	1
EARS2	99.96	1
EBF3	99.99	1
GLB1	100.00	1
ECHS1	100.00	1
EDC3	99.97	1
EDEM3	98.38	1
EED	93.81	1
EEF1A2	100.00	1
EFNB2	99.92	1
EFTUD2	99.93	1
EHMT1	98.38	1
EIF2AK2	99.70	1
EIF2AK3	97.43	1
EIF2B1	99.98	1
EIF2B2	99.90	1
EIF2B3	97.26	1
EIF2B4	99.96	1
EIF2B5	99.98	1
EIF2S3	99.34	1
EIF3F	99.96	1
EIF4A3	99.99	1
EIF5A	100.00	1
ELAC2	99.90	1
ELOVL4	99.91	1
ELP2	99.82	1
EMC1	99.85	1
EMC10	99.96	1
EML1	99.99	1
EMX2	100.00	1
ENTPD1	99.98	1
EP300	99.97	1
EPB41L1	100.00	1
EPG5	99.95	1
EPHA7	99.97	1
EPM2A	99.99	1
EPRS1	99.53	1
ERBB4	99.92	1
ERCC1	99.96	1
ERCC2	99.99	1
ERCC3	99.90	1
ERCC5	99.99	1
ERCC6	99.60	1
ERCC6L2	99.94	1
ERCC8	99.79	1
ERLIN2	99.94	1
ESCO2	99.92	1
ETFA	99.95	1
ETFB	100.00	1
ETFDH	99.82	1
ETHE1	84.97	1
EXOC2	99.97	1
EXOC7	100.00	1
EXOSC2	100.00	1
EXOSC3	100.00	1
EXOSC8	99.91	1
EXOSC9	94.91	1
EXT2	99.98	1
EXTL3	99.99	1
EZH2	99.89	1
FA2H	99.98	1
FAM111A	100.00	1
HYCC1	99.81	1
FAM149B1	99.69	1
FAM20C	100.00	1
FAM50A	99.99	1
FANCD2	99.86	1
FAR1	99.82	1
FARS2	100.00	1
FARSA	100.00	1
FARSB	99.64	1
FAT4	99.98	1
FBRSL1	95.66	1
FBXL3	99.48	1
FBXL4	100.00	1
FBXO11	99.53	1
FBXO28	99.67	1
FBXO31	99.99	1
FBXW11	99.96	1
FBXW7	99.90	1
FDFT1	99.99	1
FGD1	99.96	1
FGF12	99.94	1
FGF13	99.76	1
FGF14	99.99	1
FGFR1	100.00	1
FGFR2	99.99	1
FGFR3	100.00	1
FH	99.95	1
FIBP	99.83	1
FIG4	99.83	1
FKRP	100.00	1
FKTN	99.94	1
FLNA	99.99	1
FLVCR1	99.91	1
FLVCR2	100.00	1
FMN2	99.99	1
FMR1	99.56	1
FOLR1	100.00	1
FOXG1	99.91	1
FOXP1	99.98	1
FOXP2	99.98	1
FOXRED1	100.00	1
FRAS1	99.97	1
FREM2	99.97	1
FRMD4A	100.00	1
FRMPD4	99.92	1
FRRS1L	99.91	1
FTCD	99.99	1
FTO	99.66	1
FTSJ1	99.95	1
FUCA1	98.72	1
FUT8	99.98	1
FXYD2	100.00	1
FZR1	99.99	1
GABBR2	99.96	1
GABRA1	100.00	1
GABRA2	99.90	1
GABRA3	99.96	1
GABRA5	99.96	1
GABRB1	99.97	1
GABRB2	99.92	1
GABRB3	99.66	1
GABRD	99.99	1
GABRG2	91.88	1
GAD1	99.92	1
GAL	99.90	1
GALC	99.92	1
GALE	99.90	1
GALNT2	99.44	1
GALT	100.00	1
GAMT	100.00	1
GATAD2B	99.44	1
GATM	99.92	1
GBA1	96.92	1
GCDH	100.00	1
GCH1	99.94	1
GCK	99.99	1
GCSH	98.75	1
GDI1	99.99	1
GEMIN4	100.00	1
GEMIN5	99.96	1
GFAP	99.99	1
GFER	100.00	1
GFM1	99.95	1
GFM2	99.87	1
GJA1	100.00	1
GJB1	100.00	1
GJC2	100.00	1
GK	99.27	1
GLDC	99.99	1
GLI2	99.93	1
GLI3	100.00	1
GLIS3	99.99	1
GLRA1	100.00	1
GLRB	99.79	1
GLS	99.78	1
GLUD1	99.80	1
GLUL	99.88	1
GLYCTK	100.00	1
GM2A	100.00	1
GMNN	99.73	1
GMPPA	99.97	1
GMPPB	100.00	1
GNAI1	99.70	1
GNAO1	99.86	1
GNAQ	99.94	1
GNAS	100.00	1
GNB1	100.00	1
GNB2	99.99	1
GNB5	99.98	1
GNPAT	99.78	1
GNPTAB	99.76	1
GNPTG	100.00	1
GNS	99.59	1
GOSR2	98.92	1
GOT2	99.78	1
GPAA1	100.00	1
GPC3	99.60	1
GPC4	99.89	1
GPHN	99.94	1
GPT2	99.97	1
GRIA2	99.99	1
GRIA3	99.93	1
GRIA4	99.93	1
GRID2	99.97	1
GRIK2	99.90	1
GRIN1	100.00	1
GRIN2A	100.00	1
GRIN2B	99.99	1
GRIN2D	99.97	1
GRIP1	99.83	1
GRM1	100.00	1
GRM7	99.99	1
GRN	100.00	1
GSS	99.99	1
GTF2E2	100.00	1
GTF2H5	100.00	1
GTPBP2	99.98	1
GTPBP3	99.99	1
GUSB	95.07	1
H1-4	100.00	1
H3-3A	35.67	1
H3-3B	100.00	1
H4C11	99.08	1
H4C3	99.99	1
H4C5	100.00	1
H4C9	100.00	1
HACE1	99.76	1
HADH	99.86	1
HADHA	99.98	1
HAX1	100.00	1
HCCS	99.90	1
HCFC1	99.99	1
HCN1	99.99	1
HCN2	97.35	1
HDAC4	99.98	1
HDAC6	99.96	1
HDAC8	99.74	1
HECW2	99.91	1
HEPACAM	100.00	1
HERC1	99.92	1
HERC2	95.66	1
HESX1	99.77	1
HEXA	99.99	1
HEXB	99.91	1
HGSNAT	99.93	1
HIBCH	99.70	1
HID1	99.99	1
HIVEP2	99.99	1
HK1	99.97	1
HLCS	99.97	1
HMGB1	54.18	1
HMGCL	99.31	1
HNMT	99.53	1
HNRNPH1	99.98	1
HNRNPH2	99.96	1
HNRNPK	99.93	1
HNRNPR	98.05	1
HNRNPU	99.95	1
HOXA1	100.00	1
HPD	99.99	1
HPDL	99.99	1
HPRT1	97.80	1
HRAS	100.00	1
HS2ST1	95.79	1
HSD17B10	99.98	1
HSD17B4	99.71	1
HSPA9	99.96	1
HSPD1	83.42	1
HTRA2	99.99	1
HUWE1	99.88	1
IARS1	99.89	1
IARS2	99.77	1
IBA57	100.00	1
IDH2	100.00	1
IDS	99.82	1
IDUA	99.99	1
IER3IP1	99.92	1
IFIH1	99.84	1
IFT172	99.98	1
IFT27	100.00	1
IGF1	100.00	1
IGF1R	100.00	1
IKBKG	57.34	1
IL1RAPL1	99.77	1
IMPA1	99.95	1
IMPDH2	100.00	1
INPP5E	99.85	1
INPP5K	99.94	1
INTS1	100.00	1
INTS8	99.89	1
IQSEC1	99.99	1
IQSEC2	99.97	1
IREB2	99.90	1
IRF2BPL	99.21	1
IRX5	100.00	1
ISCA2	100.00	1
ITGA7	99.87	1
ITPA	99.99	1
ITPR1	99.98	1
IVD	100.00	1
JAG1	100.00	1
JAM2	91.82	1
JAM3	100.00	1
JARID2	99.97	1
KANK1	99.99	1
KANSL1	99.85	1
KARS1	99.98	1
KAT5	100.00	1
KAT6A	99.93	1
KAT6B	99.79	1
KAT8	99.98	1
KATNAL2	99.98	1
KATNB1	99.99	1
KATNIP	99.13	1
KCNA1	100.00	1
KCNA2	99.99	1
KCNA4	100.00	1
KCNB1	100.00	1
KCNC1	100.00	1
KCNC2	99.88	1
KCNC3	99.98	1
KCND2	99.90	1
KCND3	99.98	1
KCNH1	99.92	1
KCNJ10	99.98	1
KCNJ11	100.00	1
KCNJ6	100.00	1
KCNK4	99.99	1
KCNK9	100.00	1
KCNMA1	99.89	1
KCNN2	91.25	1
KCNN3	99.97	1
KCNQ2	100.00	1
KCNQ3	99.98	1
KCNQ5	99.89	1
KCNT1	99.98	1
KCNT2	98.77	1
KCTD3	99.75	1
KCTD7	99.98	1
KDM1A	89.42	1
KDM3B	99.98	1
KDM4B	99.99	1
KDM5B	97.15	1
KDM5C	99.98	1
KDM6A	99.74	1
KDM6B	99.99	1
KIAA0586	95.75	1
BLTP1	99.79	1
KIDINS220	99.94	1
KIF11	99.84	1
KIF14	97.80	1
KIF1A	99.96	1
KIF21B	99.83	1
KIF2A	99.79	1
KIF4A	99.76	1
KIF5A	99.91	1
KIF5C	99.93	1
KIF7	100.00	1
KIFBP	99.91	1
KLF7	99.99	1
KLHL15	100.00	1
KLHL7	99.95	1
KMT2A	99.97	1
KMT2B	99.99	1
KMT2C	98.98	1
KMT2D	99.98	1
KMT2E	99.92	1
KMT5B	99.91	1
KNL1	98.43	1
KPTN	99.98	1
KRAS	99.13	1
KRIT1	99.33	1
L1CAM	99.98	1
L2HGDH	99.92	1
LAMA1	99.98	1
LAMA2	99.95	1
LAMB1	99.87	1
LAMC3	99.97	1
LAMP2	98.95	1
LARGE1	100.00	1
LARP7	99.63	1
LARS1	99.87	1
LAS1L	99.97	1
LGI1	99.99	1
LGI4	99.98	1
LIAS	99.98	1
LIG4	100.00	1
LINGO1	100.00	1
LINS1	99.96	1
LIPT1	99.89	1
LMAN2L	99.91	1
LMBRD2	99.66	1
LMNB1	99.73	1
LMNB2	99.99	1
LONP1	99.99	1
LRP2	99.86	1
LRPPRC	99.80	1
LSS	99.98	1
LYRM7	99.98	1
LYST	99.87	1
LZTFL1	100.00	1
LZTR1	99.46	1
MAB21L1	100.00	1
MAB21L2	100.00	1
MACF1	99.33	1
MAF	99.73	1
MAGEL2	99.99	1
MAGT1	99.54	1
MAN1B1	99.94	1
MAN2B1	99.99	1
MANBA	99.81	1
MAOA	99.83	1
MAP1B	100.00	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MAPK1	99.84	1
MAPK8IP3	100.00	1
MAPKAPK5	99.95	1
MAPRE2	99.96	1
MASP1	99.99	1
MAST1	100.00	1
MAT1A	99.70	1
MBD5	99.79	1
MBOAT7	100.00	1
MBTPS2	99.81	1
MCCC1	99.86	1
MCCC2	99.97	1
MCM3AP	99.98	1
MCOLN1	100.00	1
MCPH1	100.00	1
MDH2	99.54	1
MECP2	99.95	1
MECR	99.63	1
MED12	99.94	1
MED12L	99.95	1
MED13	99.55	1
MED13L	99.99	1
MED17	99.82	1
MED23	99.82	1
MED25	99.95	1
MED27	99.99	1
MEF2C	99.57	1
MEGF8	99.90	1
MEIS2	99.97	1
METTL23	100.00	1
METTL5	99.75	1
MFF	99.97	1
MFSD2A	99.78	1
MFSD8	99.70	1
MGAT2	100.00	1
MGP	99.95	1
MICAL1	99.99	1
MICU1	99.56	1
MID1	99.90	1
MINPP1	99.73	1
MKKS	100.00	1
MKS1	99.92	1
MLC1	99.99	1
MLYCD	99.95	1
MMAA	99.95	1
MMAB	99.99	1
MMACHC	99.98	1
MMADHC	99.76	1
MMUT	99.68	1
MN1	99.98	1
MOCS1	99.95	1
MOCS2	99.96	1
MOGS	100.00	1
MORC2	100.00	1
MPDU1	99.97	1
MPDZ	99.86	1
MPLKIP	99.99	1
MRAS	99.97	1
MRPL3	99.94	1
MRPS22	99.87	1
MRPS34	100.00	1
MSL3	99.83	1
MSMO1	99.88	1
MTFMT	99.98	1
MTHFR	99.97	1
MTHFS	100.00	1
MTO1	90.25	1
MTOR	99.98	1
MTR	99.95	1
MTRFR	99.87	1
MTRR	99.98	1
MVK	99.97	1
MYCN	100.00	1
MYO5A	99.94	1
MYT1L	99.99	1
NAA10	99.99	1
NAA15	99.71	1
NAA20	99.93	1
NACC1	99.99	1
NAGA	100.00	1
NAGLU	100.00	1
NAGS	99.99	1
NALCN	99.97	1
NANS	100.00	1
NAPB	100.00	1
NARS1	99.94	1
NARS2	99.59	1
NAXD	99.99	1
NAXE	99.99	1
NBEA	99.98	1
NBN	99.93	1
NCAPG2	99.97	1
NCDN	99.99	1
NCKAP1	99.62	1
NCOR1	99.88	1
NDE1	100.00	1
NDP	99.98	1
NDST1	100.00	1
NDUFA1	99.93	1
NDUFA10	99.98	1
NDUFA11	98.22	1
NDUFA12	99.21	1
NDUFA2	99.95	1
NDUFA6	99.96	1
NDUFA8	100.00	1
NDUFAF1	100.00	1
NDUFAF2	99.88	1
NDUFAF3	100.00	1
NDUFAF4	99.95	1
NDUFAF5	99.89	1
NDUFAF8	99.98	1
NDUFB3	99.60	1
NDUFB9	100.00	1
NDUFS1	99.79	1
NDUFS2	99.66	1
NDUFS3	100.00	1
NDUFS4	99.99	1
NDUFS6	100.00	1
NDUFS7	99.99	1
NDUFS8	100.00	1
NDUFV1	99.99	1
NDUFV2	99.98	1
NECAP1	100.00	1
NECTIN1	99.99	1
NEDD4L	99.97	1
NEMF	99.94	1
NEU1	99.98	1
NEUROD2	100.00	1
NEXMIF	99.99	1
NF1	99.88	1
NFASC	99.94	1
NFE2L2	99.97	1
NFIA	97.55	1
NFIB	99.90	1
NFIX	99.99	1
NFU1	99.48	1
NGLY1	99.93	1
NHLRC1	100.00	1
NHS	99.96	1
NIPBL	99.34	1
NKAP	99.10	1
NKX2-1	100.00	1
NLGN3	99.98	1
NLGN4X	99.98	1
NLRP3	100.00	1
NONO	99.94	1
NOVA2	99.95	1
NPC1	99.99	1
NPC2	100.00	1
NPHP1	99.05	1
NPRL2	100.00	1
NPRL3	99.99	1
NR2F1	99.99	1
NR4A2	99.97	1
NRAS	99.66	1
NRROS	100.00	1
NRXN1	99.98	1
NSD1	99.98	1
NSD2	99.87	1
NSDHL	99.87	1
NSUN2	99.96	1
NT5C2	99.96	1
NTNG2	99.98	1
NTRK1	99.86	1
NTRK2	99.90	1
NUBPL	99.62	1
NUDT2	100.00	1
NUP107	97.46	1
NUP188	99.88	1
NUP214	99.98	1
NUP62	100.00	1
NUS1	99.90	1
OAT	90.17	1
OCLN	82.91	1
OCRL	99.89	1
ODC1	99.99	1
OFD1	99.68	1
OGT	99.79	1
OPHN1	99.92	1
SLC25A15	100.00	1
OSGEP	100.00	1
OTC	99.42	1
OTUD5	99.93	1
OTUD6B	99.92	1
OTX2	100.00	1
OXR1	99.96	1
P4HTM	100.00	1
PABPC1	99.84	1
PACS1	99.96	1
PACS2	99.99	1
PAFAH1B1	99.96	1
PAH	99.96	1
PAK1	99.99	1
PAK3	92.53	1
PANK2	99.99	1
PARN	99.75	1
PARP6	99.97	1
PARS2	99.99	1
PAX1	100.00	1
PAX6	99.95	1
PAX8	99.99	1
PBX1	99.88	1
PODXL	99.99	1
PCCA	99.90	1
PCCB	99.97	1
PCDH12	100.00	1
PCDH19	99.98	1
PCDHGC4	100.00	1
PCGF2	99.78	1
PCLO	99.41	1
PCNT	99.97	1
PCYT2	100.00	1
PDCD10	99.94	1
PDE2A	99.95	1
PDE4D	99.89	1
PDE6D	99.94	1
PDGFRB	99.99	1
PDHA1	99.04	1
PDHB	99.94	1
PDHX	100.00	1
PDP1	100.00	1
PDSS1	95.70	1
PDSS2	99.87	1
PEPD	99.98	1
PET100	99.98	1
PEX1	98.80	1
PEX10	100.00	1
PEX11B	99.62	1
PEX12	100.00	1
PEX13	99.36	1
PEX14	100.00	1
PEX16	99.94	1
PEX19	99.25	1
PEX2	100.00	1
PEX26	100.00	1
PEX3	99.85	1
PEX5	99.89	1
PEX6	99.99	1
PEX7	99.72	1
PGAP1	99.56	1
PGAP2	99.99	1
PGAP3	99.97	1
PGK1	99.93	1
PGM2L1	99.82	1
PGM3	99.94	1
PHACTR1	100.00	1
PHF21A	99.91	1
PHF6	99.16	1
PHF8	99.87	1
PHGDH	99.79	1
PHIP	99.63	1
PI4KA	99.76	1
PIBF1	99.90	1
PIDD1	100.00	1
PIGA	99.81	1
PIGB	99.92	1
PIGC	100.00	1
PIGF	98.59	1
PIGG	99.99	1
PIGH	100.00	1
PIGK	92.56	1
PIGL	99.98	1
PIGN	99.91	1
PIGO	99.99	1
PIGP	99.87	1
PIGQ	99.99	1
PIGS	100.00	1
PIGT	99.95	1
PIGU	99.98	1
PIGV	100.00	1
PIGW	99.87	1
PIGY	99.99	1
PIK3C2B	99.79	1
PIK3CA	99.74	1
PIK3R2	99.95	1
PISD	100.00	1
PITRM1	99.89	1
PLA2G6	99.98	1
PLAA	99.79	1
PLCB1	99.98	1
PLCH1	99.99	1
PLK4	99.89	1
PLP1	99.98	1
PLPBP	99.99	1
PLXNA1	100.00	1
PLXND1	99.98	1
PMM2	99.93	1
PMPCA	99.99	1
PMPCB	99.94	1
PNKP	100.00	1
PNP	100.00	1
PNPLA6	99.99	1
PNPO	99.90	1
PNPT1	99.56	1
POC1A	99.98	1
POC1B	100.00	1
POGZ	99.49	1
POLA1	99.57	1
POLG	100.00	1
POLR1C	100.00	1
POLR2A	99.95	1
POLR3A	99.97	1
POLR3B	99.94	1
POMGNT1	99.69	1
POMGNT2	100.00	1
POMK	100.00	1
POMT1	99.96	1
POMT2	99.98	1
PORCN	99.93	1
POU1F1	99.98	1
POU3F3	99.96	1
PPFIBP1	99.11	1
PPIL1	100.00	1
PPM1D	99.81	1
PPP1CB	99.89	1
PPP1R12A	99.08	1
PPP1R15B	99.92	1
PPP1R21	99.92	1
PPP2CA	99.99	1
PPP2R1A	100.00	1
PPP2R5D	99.99	1
PPP3CA	99.84	1
PPT1	97.48	1
PQBP1	99.99	1
PRDM13	99.99	1
PRDM15	99.99	1
PRF1	100.00	1
PRICKLE1	99.87	1
PRICKLE2	99.98	1
PRIMA1	99.98	1
PRKACB	87.33	1
PRKAR1A	100.00	1
PRKAR1B	100.00	1
PRMT7	99.95	1
PRODH	4.29	1
PRPS1	99.95	1
PRR12	100.00	1
PRRT2	99.97	1
PRSS12	99.98	1
PRUNE1	99.85	1
PSAP	99.94	1
PSAT1	99.98	1
PSMD12	99.95	1
PSPH	99.09	1
PTCH1	99.99	1
PTCHD1	99.97	1
PTDSS1	99.95	1
PTEN	99.89	1
PTPN11	99.98	1
PTPN23	100.00	1
PTPN4	98.20	1
PTRH2	99.99	1
PTRHD1	100.00	1
PTS	99.93	1
PUF60	100.00	1
PUM1	98.14	1
PURA	100.00	1
PUS1	100.00	1
PUS3	100.00	1
PUS7	99.89	1
PYCR1	99.99	1
PYCR2	99.95	1
QARS1	100.00	1
QDPR	99.92	1
QRICH1	100.00	1
RAB11B	100.00	1
RAB18	99.76	1
RAB23	99.97	1
RAB27A	99.94	1
RAB39B	99.99	1
RAB3GAP1	99.73	1
RAB3GAP2	99.69	1
RABGAP1	99.99	1
RAC1	99.75	1
NCOA3	100.00	1
RAD21	99.91	1
RAF1	99.97	1
RAI1	98.56	1
RALA	99.69	1
RALGAPA1	99.73	1
RARB	99.99	1
RARS2	99.88	1
RBBP8	99.91	1
RBFOX1	99.95	1
RBM10	99.98	1
RBM28	99.99	1
RBPJ	99.96	1
RCBTB1	99.99	1
RELN	99.98	1
RERE	99.94	1
RFT1	99.79	1
RFX3	99.95	1
RFX4	99.95	1
RFX7	99.99	1
RHEB	99.97	1
RHOBTB2	100.00	1
RIMS2	99.97	1
RIT1	99.78	1
RLIM	99.93	1
RMND1	99.92	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNASET2	99.99	1
RNF113A	99.99	1
RNF125	99.98	1
RNF13	99.81	1
RNF220	99.68	1
RNPC3	88.90	1
RNU4ATAC	99.95	1
RNU7-1	33.90	1
ROGDI	99.98	1
RORA	99.97	1
RORB	99.86	1
RPGRIP1L	96.35	1
RPIA	99.84	1
RPL15	84.91	1
RPS19	100.00	1
RPS6KA3	98.93	1
RRAS2	99.94	1
RRM2B	99.97	1
RSPRY1	99.73	1
RSRC1	99.95	1
RTEL1	100.00	1
RTN4IP1	99.98	1
RTTN	99.93	1
RUBCN	100.00	1
RUSC2	99.99	1
RXYLT1	99.48	1
SALL1	100.00	1
SAMD9	99.93	1
SAMHD1	99.98	1
SARS1	98.53	1
SATB1	100.00	1
SATB2	99.96	1
SBDS	99.93	1
SBF1	99.99	1
SC5D	99.97	1
SCAF4	99.91	1
SCAMP5	99.99	1
SCAPER	99.75	1
SCARB2	99.99	1
SCN1A	99.94	1
SCN1B	99.98	1
SCN2A	99.86	1
SCN3A	99.76	1
SCN8A	99.77	1
SCO1	99.98	1
SCO2	100.00	1
SCYL1	100.00	1
SDCCAG8	100.00	1
SDHA	99.98	1
SDHAF1	99.99	1
SEMA3E	99.13	1
SEMA6B	99.98	1
SEPSECS	99.78	1
SERAC1	99.90	1
SERPINI1	99.98	1
SET	78.28	1
SETBP1	100.00	1
SETD1A	99.99	1
SETD1B	99.99	1
SETD2	99.91	1
SETD5	99.99	1
SFXN4	99.97	1
SGPL1	99.95	1
SGSH	100.00	1
SHANK1	99.99	1
SHANK2	99.97	1
SHANK3	98.45	1
SHH	100.00	1
SHMT2	99.92	1
SHOC2	99.96	1
SHROOM4	99.78	1
SIAH1	100.00	1
SIK1	3.83	1
SIL1	99.95	1
SIN3A	99.97	1
SIN3B	99.98	1
SIX3	100.00	1
HHAT	99.98	1
SLC12A2	99.55	1
SLC12A5	99.99	1
SLC12A6	99.98	1
SLC13A5	99.99	1
SLC16A1	99.26	1
SLC16A2	99.97	1
SLC17A5	99.71	1
SLC19A3	99.95	1
SLC1A1	99.98	1
SLC1A2	99.95	1
SLC1A4	99.97	1
SLC25A1	99.93	1
SLC25A12	99.72	1
SLC25A19	99.99	1
SLC25A20	100.00	1
SLC25A22	100.00	1
SLC25A42	99.99	1
SLC2A1	99.93	1
SLC33A1	99.67	1
SLC35A1	99.81	1
SLC35A2	99.97	1
SLC35A3	94.67	1
SLC35C1	100.00	1
SLC39A14	92.87	1
SLC39A8	99.95	1
SLC46A1	100.00	1
SLC4A4	99.97	1
SLC5A6	100.00	1
SLC6A1	99.96	1
SLC6A17	99.79	1
SLC6A19	99.99	1
SLC6A3	99.96	1
SLC6A8	99.99	1
SLC6A9	99.93	1
SLC7A7	99.99	1
SLC9A6	99.42	1
SLC9A7	99.91	1
SMAD4	99.97	1
SMAD6	100.00	1
SMARCA2	99.95	1
SMARCA4	99.99	1
SMARCA5	99.81	1
SMARCB1	99.99	1
SMARCC2	99.73	1
SMARCD1	99.81	1
SMARCE1	99.87	1
SMC1A	99.98	1
SMC3	99.91	1
SMG8	99.92	1
SMG9	99.99	1
SMOC1	100.00	1
SMPD1	100.00	1
SMPD4	99.90	1
SNAP25	99.89	1
SNAP29	99.85	1
SNIP1	99.96	1
SNORD118	100.00	1
SNRPN	99.97	1
SNX14	99.73	1
SNX27	99.59	1
SOBP	99.99	1
SON	99.95	1
SOS1	99.68	1
SOS2	99.39	1
SOX10	100.00	1
SOX11	100.00	1
SOX2	100.00	1
SOX3	100.00	1
SOX4	99.36	1
SOX5	99.96	1
SOX6	99.89	1
SPART	99.98	1
SPAST	99.77	1
AFG2A	99.82	1
SPATA5L1	99.91	1
SPECC1L	99.98	1
SPEN	99.98	1
SPG11	99.89	1
SPOP	99.85	1
SPR	99.99	1
SPRED1	99.99	1
SPTAN1	99.96	1
SPTBN1	99.98	1
SPTBN2	99.98	1
SPTBN4	99.91	1
SRCAP	99.99	1
SRD5A3	99.94	1
SRPX2	99.95	1
SRRM2	99.98	1
SSR4	99.99	1
ST3GAL3	99.98	1
ST3GAL5	99.96	1
STAG1	99.88	1
STAG2	99.08	1
STAMBP	99.95	1
STEEP1	99.89	1
STIL	99.11	1
STRA6	99.95	1
STRADA	99.98	1
STT3A	99.99	1
STT3B	99.96	1
STX1B	99.97	1
STXBP1	99.99	1
SUCLA2	99.96	1
SUCLG1	99.64	1
SUFU	100.00	1
SUMF1	99.95	1
SUOX	100.00	1
SUPT16H	99.97	1
SURF1	100.00	1
SUZ12	98.58	1
SVBP	99.04	1
SYN1	99.98	1
SYNCRIP	99.93	1
SYNE1	99.95	1
SYNGAP1	99.96	1
SYNJ1	99.91	1
SYP	99.99	1
SYT1	99.70	1
SYT14	99.94	1
SZT2	99.88	1
TAF1	99.84	1
TAF13	95.71	1
TAF1C	100.00	1
TAF2	99.72	1
TAF6	99.96	1
TAFAZZIN	99.98	1
TANC2	99.85	1
TANGO2	99.85	1
TAOK1	99.77	1
TASP1	99.86	1
TAT	99.99	1
TBC1D20	100.00	1
TBC1D23	98.70	1
TBC1D24	100.00	1
TBC1D2B	99.94	1
TBC1D7	99.90	1
TBCD	100.00	1
TBCE	99.91	1
TBCK	99.75	1
TBL1XR1	99.92	1
TBP	99.98	1
TBR1	99.99	1
TBX1	99.95	1
TCF20	100.00	1
TCF4	98.56	1
TCF7L2	99.69	1
TCN2	100.00	1
TCTN1	99.92	1
TCTN2	99.99	1
TCTN3	99.92	1
TDP2	99.97	1
TECPR2	99.96	1
TECR	99.99	1
TELO2	99.99	1
TENM3	99.99	1
TET3	99.95	1
TFAP2A	100.00	1
TFE3	99.87	1
TGDS	99.86	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TGIF1	100.00	1
TH	99.99	1
THOC2	99.11	1
THOC6	99.94	1
THRA	100.00	1
THRB	99.82	1
TIAM1	99.99	1
TIMM50	99.99	1
TIMM8A	100.00	1
TINF2	100.00	1
DDR2	97.39	1
TLK2	98.83	1
TMCO1	99.48	1
TMEM106B	99.92	1
TMEM107	100.00	1
TMEM138	100.00	1
TMEM165	99.97	1
TMEM216	99.98	1
TMEM222	99.93	1
TMEM231	88.88	1
TMEM237	99.30	1
TMEM240	99.99	1
TMEM63A	99.91	1
TMEM67	99.69	1
TMEM70	99.99	1
TMEM94	99.96	1
TMLHE	77.23	1
TMTC3	97.80	1
TMX2	99.99	1
TNIK	99.93	1
TNK2	99.98	1
TNPO2	99.99	1
TNR	99.80	1
TNRC6B	99.99	1
TOE1	99.96	1
TOGARAM1	99.93	1
TOR1A	100.00	1
TP53RK	81.09	1
TP73	100.00	1
TPI1	99.95	1
TPK1	99.96	1
THPO	100.00	1
ACD	99.99	1
TRAF7	99.97	1
TRAIP	99.97	1
TRAK1	99.98	1
TRAPPC10	84.42	1
TRAPPC11	99.93	1
TRAPPC12	99.96	1
TRAPPC2L	100.00	1
TRAPPC4	100.00	1
TRAPPC6B	99.74	1
TRAPPC9	99.98	1
TREX1	100.00	1
TRIM32	100.00	1
TRIM8	99.82	1
TRIO	99.98	1
TRIP12	99.62	1
TRIP4	99.97	1
TRIT1	99.25	1
TRMT1	100.00	1
TRMT10A	99.90	1
TRMT10C	99.55	1
TRNT1	99.97	1
TRPM3	99.89	1
TRPM6	99.93	1
TRRAP	99.79	1
TSC1	99.99	1
TSC2	99.98	1
TSEN15	99.57	1
TSEN2	99.98	1
TSEN34	100.00	1
TSEN54	100.00	1
TSFM	100.00	1
TSHB	99.95	1
TSPAN7	99.97	1
TTC19	99.99	1
TTC21B	99.50	1
SKIC3	99.82	1
TTC5	100.00	1
TTC8	99.67	1
TTI1	100.00	1
TTI2	99.94	1
TUBA1A	99.97	1
TUBB	100.00	1
TUBB2A	87.26	1
TUBB2B	87.69	1
TUBB3	100.00	1
TUBB4A	100.00	1
TUBG1	99.95	1
TUBGCP2	96.54	1
TUBGCP4	99.80	1
TUBGCP6	100.00	1
TUFM	100.00	1
TUSC3	99.96	1
TWIST1	100.00	1
TWNK	100.00	1
U2AF2	99.98	1
UBA5	99.95	1
UBE2A	99.77	1
UBE3A	99.23	1
UBE3B	99.99	1
UBE4A	99.99	1
UBR1	99.93	1
UBR7	99.96	1
UBTF	99.99	1
UFC1	99.35	1
UFM1	99.25	1
UFSP2	99.74	1
UGDH	99.77	1
UGP2	99.85	1
UMPS	99.90	1
UNC80	98.04	1
UPB1	100.00	1
UPF3B	99.26	1
UQCRQ	99.96	1
UROC1	99.99	1
USP18	93.05	1
USP27X	99.99	1
USP7	99.90	1
USP9X	99.84	1
VAMP1	100.00	1
VAMP2	100.00	1
VARS1	99.99	1
VLDLR	99.99	1
VPS11	99.99	1
VPS13B	99.90	1
VPS16	100.00	1
VPS37A	99.96	1
VPS41	99.92	1
VPS4A	99.98	1
VPS53	100.00	1
VRK1	99.98	1
WAC	99.76	1
WARS2	97.72	1
WASF1	99.86	1
WASHC4	99.84	1
WASHC5	99.98	1
WDFY3	99.93	1
WDR19	99.80	1
WDR26	96.29	1
WDR37	99.94	1
WDR4	99.95	1
WDR45	99.99	1
WDR45B	100.00	1
WDR5	100.00	1
WDR62	99.96	1
WDR73	99.92	1
WDR81	100.00	1
WFS1	99.99	1
WNT1	99.97	1
WWOX	100.00	1
XK	99.98	1
XPA	99.68	1
XPNPEP3	99.99	1
XRCC4	99.89	1
XYLT1	99.98	1
XYLT2	99.97	1
YAP1	99.87	1
YIF1B	99.80	1
YIPF5	99.99	1
YME1L1	99.87	1
YWHAG	99.99	1
YY1	100.00	1
ZBTB11	99.97	1
ZBTB16	100.00	1
ZBTB18	99.41	1
ZBTB20	100.00	1
ZBTB24	99.99	1
ZC3H14	99.96	1
ZC4H2	99.98	1
ZDHHC9	99.61	1
ZEB2	99.97	1
ZFHX3	99.96	1
ZFHX4	99.99	1
ZFYVE26	100.00	1
ZIC1	99.99	1
ZIC2	100.00	1
ZMIZ1	99.92	1
ZMYM2	99.88	1
ZMYND11	99.99	1
ZNF142	100.00	1
ZNF148	99.85	1
ZNF292	99.91	1
ZNF335	100.00	1
ZNF407	99.98	1
ZNF423	98.94	1
ZNF462	99.99	1
ZNF526	100.00	1
ZNF699	100.00	1
ZNF711	99.43	1
ZSWIM6	98.94	1

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

Rare epilepsy with developmental delay (> 240 genes) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	No comment
ABAT	100.00	No comment
ACTB	99.92	No comment
ACTG1	100.00	No comment
ACTL6B	99.16	No comment
ACY1	99.96	No comment
ADAR	99.99	No comment
ADPRS	91.11	No comment
ADSL	99.73	No comment
AFG3L2	95.23	No comment
ALDH7A1	99.83	No comment
ALG11	100.00	No comment
ALG13	95.29	No comment
AMT	100.00	No comment
ANKRD11	99.99	No comment
AP3B2	97.74	No comment
AP4S1	87.73	No comment
ARFGEF2	99.81	No comment
ARHGEF9	99.89	No comment
ARID1B	87.88	No comment
ARV1	89.03	No comment
ARX	59.32	No comment
ASXL3	99.74	No comment
ATN1	99.12	No comment
ATP1A2	99.88	No comment
ATP1A3	99.81	No comment
BRAT1	99.96	No comment
BSCL2	100.00	No comment
CACNA1A	92.18	No comment
CACNA1B	93.35	No comment
CACNA1E	99.99	No comment
CACNA1G	99.63	No comment
CACNA2D2	94.11	No comment
CASK	99.78	No comment
CDK13	88.47	No comment
CDKL5	97.71	No comment
CERS1	76.68	No comment
CERT1	99.89	No comment
CHD2	99.95	No comment
CLCN4	99.94	No comment
CLN3	99.98	No comment
CLN5	97.84	No comment
CLN6	91.00	No comment
CLN8	100.00	No comment
CLTC	100.00	No comment
CNKSR2	99.28	No comment
CNTNAP2	99.99	No comment
COL18A1	96.27	No comment
COL4A1	98.54	No comment
CPLX1	99.70	No comment
CPT2	97.07	No comment
CSNK2B	100.00	No comment
CSTB	92.54	No comment
CTSD	97.90	No comment
CUX2	98.72	No comment
CYFIP2	99.99	No comment
DCX	99.86	No comment
DDX3X	99.66	No comment
DENND5A	98.99	No comment
DEPDC5	99.97	No comment
DHDDS	99.77	No comment
DMXL2	99.86	No comment
DNM1	94.54	No comment
DNM1L	99.97	No comment
DOCK7	99.35	No comment
DYRK1A	100.00	No comment
EEF1A2	91.59	No comment
EHMT1	98.44	No comment
EPM2A	81.75	No comment
FARS2	99.99	No comment
FGF12	100.00	No comment
FLNA	99.50	No comment
FMN2	92.71	No comment
FMR1	99.71	No comment
FOLR1	100.00	No comment
FOXG1	75.13	No comment
FRRS1L	69.11	No comment
FZR1	100.00	No comment
GABBR2	95.14	No comment
GABRA1	100.00	No comment
GABRA2	100.00	No comment
GABRB1	100.00	No comment
GABRB2	100.00	No comment
GABRB3	98.87	No comment
GABRG2	92.15	No comment
GAD1	100.00	No comment
GAMT	95.00	No comment
GBA1	100.00	No comment
GLDC	96.06	No comment
GNAO1	100.00	No comment
GNB1	100.00	No comment
GNB5	99.70	No comment
GOSR2	99.87	No comment
GPHN	100.00	No comment
GRIA2	100.00	No comment
GRIA3	97.93	No comment
GRIK2	99.97	No comment
GRIN1	99.74	No comment
GRIN2A	100.00	No comment
GRIN2B	100.00	No comment
GRIN2D	61.45	No comment
HCN1	93.52	No comment
HECW2	99.99	No comment
HNRNPU	95.95	No comment
HUWE1	99.62	No comment
IER3IP1	99.80	No comment
IFIH1	99.99	No comment
IQSEC2	91.31	No comment
IRF2BPL	91.18	No comment
ITPA	100.00	No comment
KANSL1	99.98	No comment
KARS1	99.99	No comment
KCNA1	100.00	No comment
KCNA2	100.00	No comment
KCNB1	99.01	No comment
KCNC1	99.52	No comment
KCNH1	99.96	No comment
KCNJ10	100.00	No comment
KCNK4	96.68	No comment
KCNMA1	99.92	No comment
KCNQ2	98.57	No comment
KCNQ3	95.56	No comment
KCNQ5	94.69	No comment
KCNT1	97.66	No comment
KCNT2	100.00	No comment
KCTD7	97.74	No comment
KDM5C	99.69	No comment
KIF1A	99.96	No comment
KIF2A	99.83	No comment
KIF5C	99.91	No comment
KMT2E	99.89	No comment
MAP1B	99.93	No comment
MBD5	100.00	No comment
MECP2	91.83	No comment
MED13L	99.94	No comment
MEF2C	100.00	No comment
MFSD8	100.00	No comment
MOCS1	97.59	No comment
MOCS2	100.00	No comment
MTOR	99.89	No comment
NARS2	99.98	No comment
NBEA	98.89	No comment
NEU1	100.00	No comment
NEXMIF	99.96	No comment
NF1	99.55	No comment
NF2	99.93	No comment
NHLRC1	99.28	No comment
NIPA1	84.21	No comment
NPRL2	100.00	No comment
NPRL3	100.00	No comment
NRXN1	98.90	No comment
NTRK2	100.00	No comment
NUS1	98.46	No comment
OTUD6B	99.73	No comment
PACS2	96.45	No comment
PAFAH1B1	100.00	No comment
PARS2	100.00	No comment
PCDH19	99.80	No comment
PHACTR1	97.55	No comment
PIGA	99.89	No comment
PIGN	99.84	No comment
PIGQ	100.00	No comment
PIGS	100.00	No comment
PIGT	100.00	No comment
PLCB1	99.97	No comment
PLPBP	99.57	No comment
PNKP	99.98	No comment
PNPO	99.98	No comment
POLG	99.86	No comment
PPP2R5D	99.94	No comment
PPP3CA	99.93	No comment
PPT1	100.00	No comment
PRICKLE1	100.00	No comment
PRRT2	100.00	No comment
PTEN	92.28	No comment
PURA	85.06	No comment
QARS1	100.00	No comment
RELN	99.97	No comment
RHOBTB2	99.98	No comment
RNASEH2A	99.99	No comment
RNASEH2B	93.70	No comment
RNASEH2C	95.34	No comment
ROGDI	94.47	No comment
RORA	97.11	No comment
RORB	100.00	No comment
RTN4IP1	100.00	No comment
SAMHD1	100.00	No comment
SCARB2	100.00	No comment
SCN1A	99.91	No comment
SCN1B	95.75	No comment
SCN2A	100.00	No comment
SCN3A	100.00	No comment
SCN8A	99.95	No comment
SERPINI1	99.98	No comment
SETD2	99.95	No comment
SIK1	99.98	No comment
SLC12A5	99.55	No comment
SLC13A5	99.89	No comment
SLC19A3	100.00	No comment
SLC1A2	99.99	No comment
SLC25A12	100.00	No comment
SLC25A22	99.88	No comment
SLC2A1	99.27	No comment
SLC35A2	99.82	No comment
SLC35A3	99.97	No comment
SLC6A1	99.93	No comment
SLC6A8	91.78	No comment
SLC9A6	94.23	No comment
SMARCA2	97.46	No comment
SMC1A	99.50	No comment
SNAP25	100.00	No comment
AFG2A	100.00	No comment
SPTAN1	99.98	No comment
ST3GAL3	100.00	No comment
ST3GAL5	93.40	No comment
STAG1	99.98	No comment
STX1B	99.89	No comment
STXBP1	100.00	No comment
SYN1	75.34	No comment
SYNGAP1	98.18	No comment
SYNJ1	99.27	No comment
SZT2	99.94	No comment
TANC2	100.00	No comment
TBC1D24	99.73	No comment
TBCD	96.99	No comment
TCF4	99.90	No comment
TK2	85.99	No comment
ACD	99.86	No comment
TRAK1	99.99	No comment
TRAPPC6B	100.00	No comment
TREX1	100.00	No comment
TRIT1	99.98	No comment
TSC1	99.97	No comment
TSC2	99.99	No comment
TUBA1A	100.00	No comment
TUBB2B	100.00	No comment
UBA5	99.97	No comment
UBE3A	99.97	No comment
UFC1	99.91	No comment
UGDH	99.96	No comment
VARS1	100.00	No comment
VARS2	100.00	No comment
WDR26	99.78	No comment
WDR45	99.67	No comment
WWOX	100.00	No comment
YWHAG	100.00	No comment
ZBTB18	99.11	No comment
ZEB2	99.91	No comment
ZNHIT3	74.73	No comment

mitochondrial disease, nuclear based (343 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS2	100.00	No comment
ABAT	100.00	No comment
ABCB7	100.00	No comment
ACAD9	100.00	No comment
ACO2	100.00	No comment
ADPRS	99.18	No comment
AFG3L2	95.05	No comment
AGK	100.00	No comment
AIFM1	100.00	No comment
ALDH1B1	100.00	No comment
ANO10	100.00	No comment
APTX	100.00	No comment
ATAD3A	98.67	No comment
ATAD3B	98.52	No comment
ATAD3C	97.28	No comment
ATL1	100.00	No comment
ATL3	100.00	No comment
ATP5F1A	100.00	No comment
ATP5F1B	100.00	No comment
ATP5F1C	100.00	No comment
ATP5F1D	86.59	No comment
ATP5F1E	100.00	No comment
ATP5IF1	100.00	No comment
ATP5MC1	100.00	No comment
ATP5MC2	100.00	No comment
ATP5MC3	100.00	No comment
ATP5MK	100.00	No comment
ATP5ME	100.00	No comment
ATP5MF	100.00	No comment
ATP5MG	100.00	No comment
ATP5MGL	100.00	No comment
ATP5PB	99.84	No comment
ATP5PD	99.81	No comment
ATP5PF	100.00	No comment
ATP5PO	100.00	No comment
ATPAF1	81.57	No comment
ATPAF2	100.00	No comment
BCS1L	100.00	No comment
BOLA1	100.00	No comment
BOLA2	100.00	No comment
BOLA3	84.43	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
C1QBP	97.23	No comment
CARS2	95.42	No comment
CEP89	100.00	No comment
CHCHD10	97.45	No comment
CHKB	99.69	No comment
CLPB	100.00	No comment
CLPP	100.00	No comment
COA1	100.00	No comment
COA3	100.00	No comment
COA5	100.00	No comment
COA6	100.00	No comment
COA7	100.00	No comment
COA8	100.00	No comment
COASY	100.00	No comment
COQ2	97.15	No comment
COQ4	100.00	No comment
COQ6	100.00	No comment
COQ7	100.00	No comment
COQ8A	100.00	No comment
COQ8B	90.08	No comment
COQ9	99.99	No comment
COX10	100.00	No comment
COX14	100.00	No comment
COX15	100.00	No comment
COX20	98.72	No comment
COX4I1	100.00	No comment
COX4I2	100.00	No comment
COX5A	97.33	No comment
COX5B	100.00	No comment
COX6A1	100.00	No comment
COX6A2	100.00	No comment
COX6B1	100.00	No comment
COX6B2	100.00	No comment
COX6C	100.00	No comment
COX7A1	100.00	No comment
COX7A2	100.00	No comment
COX7A2L	100.00	No comment
COX7B	99.88	No comment
COX7B2	100.00	No comment
COX7C	100.00	No comment
COX8A	100.00	No comment
COX8C	98.71	No comment
CYC1	88.46	No comment
CYCS	100.00	No comment
DARS2	100.00	No comment
DDHD1	98.94	No comment
DES	100.00	No comment
DGUOK	100.00	No comment
DHTKD1	99.98	No comment
DLAT	100.00	No comment
DLD	100.00	No comment
DLST	100.00	No comment
DMAC2L	100.00	No comment
DNA2	100.00	No comment
DNAJC19	100.00	No comment
DNAJC3	100.00	No comment
DNM1L	100.00	No comment
EARS2	100.00	No comment
ECHS1	99.99	No comment
ECSIT	100.00	No comment
ELAC2	99.99	No comment
ETHE1	99.88	No comment
FARS2	100.00	No comment
FASTKD2	100.00	No comment
FBXL4	100.00	No comment
FDX2	100.00	No comment
FDXR	100.00	No comment
FH	100.00	No comment
FOXRED1	100.00	No comment
FXN	89.89	No comment
GARS1	99.53	No comment
GATB	100.00	No comment
GATC	100.00	No comment
GATM	99.26	No comment
GFER	97.55	No comment
GFM1	100.00	No comment
GFM2	100.00	No comment
GLRX5	84.06	No comment
GLUD1	99.45	No comment
GTPBP3	100.00	No comment
HARS2	100.00	No comment
HCCS	100.00	No comment
HIBCH	100.00	No comment
HLCS	100.00	No comment
HSD17B10	100.00	No comment
HSPA9	100.00	No comment
HSPD1	99.53	No comment
HTRA2	100.00	No comment
IARS2	100.00	No comment
IBA57	87.89	No comment
ISCA1	99.77	No comment
ISCA2	100.00	No comment
ISCU	99.39	No comment
KARS1	100.00	No comment
LACTB	91.87	No comment
LARS2	100.00	No comment
LIAS	100.00	No comment
LIPT1	100.00	No comment
LIPT2	94.78	No comment
LONP1	99.83	No comment
LRPPRC	99.14	No comment
LYRM4	68.80	No comment
LYRM7	100.00	No comment
MARS2	100.00	No comment
MCUR1	79.55	No comment
MDH2	98.91	No comment
MFF	100.00	No comment
MFN2	100.00	No comment
MGME1	100.00	No comment
MICOS13	100.00	No comment
MICU1	100.00	No comment
MIEF2	100.00	No comment
MMUT	100.00	No comment
MPC1	100.00	No comment
MPV17	100.00	No comment
MRM2	99.91	No comment
MRM3	100.00	No comment
MRPL12	92.58	No comment
MRPL3	100.00	No comment
MRPL44	100.00	No comment
MRPL57	100.00	No comment
MRPS14	100.00	No comment
MRPS16	100.00	No comment
MRPS2	98.34	No comment
MRPS22	100.00	No comment
MRPS34	97.33	No comment
MRPS7	100.00	No comment
MRRF	100.00	No comment
MSTO1	100.00	No comment
MTFMT	99.11	No comment
MTO1	95.75	No comment
MTPAP	100.00	No comment
NADK2	90.73	No comment
NARS2	100.00	No comment
NAXE	99.78	No comment
NDUFA1	100.00	No comment
NDUFA10	95.87	No comment
NDUFA11	98.06	No comment
NDUFA12	100.00	No comment
NDUFA13	100.00	No comment
NDUFA2	100.00	No comment
NDUFA3	100.00	No comment
NDUFA4	99.68	No comment
NDUFA5	87.27	No comment
NDUFA6	100.00	No comment
NDUFA7	100.00	No comment
NDUFA8	100.00	No comment
NDUFA9	100.00	No comment
NDUFAB1	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF3	100.00	No comment
NDUFAF4	100.00	No comment
NDUFAF5	100.00	No comment
NDUFAF6	93.73	No comment
NDUFAF7	100.00	No comment
NDUFB1	100.00	No comment
NDUFB10	100.00	No comment
NDUFB11	99.52	No comment
NDUFB2	100.00	No comment
NDUFB3	100.00	No comment
NDUFB4	99.85	No comment
NDUFB5	100.00	No comment
NDUFB6	100.00	No comment
NDUFB7	100.00	No comment
NDUFB8	100.00	No comment
NDUFB9	100.00	No comment
NDUFC1	100.00	No comment
NDUFC2	100.00	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	100.00	No comment
NDUFS5	99.18	No comment
NDUFS6	100.00	No comment
NDUFS7	99.49	No comment
NDUFS8	100.00	No comment
NDUFV1	100.00	No comment
NDUFV2	100.00	No comment
NDUFV3	99.46	No comment
NFS1	93.58	No comment
NFU1	99.75	No comment
NSUN3	100.00	No comment
NUBPL	100.00	No comment
OGDH	100.00	No comment
MED12	100.00	No comment
OPA3	100.00	No comment
OXA1L	100.00	No comment
PANK2	98.60	No comment
PARS2	100.00	No comment
PODXL	100.00	No comment
PDHA1	98.17	No comment
PDHB	100.00	No comment
PDHX	99.87	No comment
PDK1	99.19	No comment
PDK2	100.00	No comment
PDK3	99.76	No comment
PDK4	100.00	No comment
PDP1	100.00	No comment
PDSS1	86.24	No comment
PDSS2	100.00	No comment
PET100	100.00	No comment
PET117	100.00	No comment
PIGA	100.00	No comment
PINK1	92.83	No comment
PISD	100.00	No comment
PITRM1	100.00	No comment
PMPCA	100.00	No comment
PNPT1	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
PPA2	99.97	No comment
PTRH2	100.00	No comment
PUS1	99.08	No comment
PYCR1	100.00	No comment
PYCR2	100.00	No comment
QRSL1	100.00	No comment
RARS2	100.00	No comment
REEP1	97.37	No comment
RMND1	100.00	No comment
RNASEH1	100.00	No comment
RRM2B	100.00	No comment
SARS2	100.00	No comment
SCO1	100.00	No comment
SCO2	100.00	No comment
SDHA	98.02	No comment
SDHAF1	96.03	No comment
SDHB	100.00	No comment
SDHD	80.22	No comment
SERAC1	100.00	No comment
SFXN4	100.00	No comment
SLC19A2	99.50	No comment
SLC19A3	100.00	No comment
SLC25A1	93.77	No comment
SLC25A12	100.00	No comment
SLC25A13	99.94	No comment
SLC25A19	100.00	No comment
SLC25A22	100.00	No comment
SLC25A24	99.82	No comment
SLC25A3	100.00	No comment
SLC25A32	100.00	No comment
SLC25A4	99.09	No comment
SLC25A46	100.00	No comment
SLC25A5	98.36	No comment
SLC25A6	100.00	No comment
SLC39A8	97.00	No comment
SPART	100.00	No comment
SPAST	100.00	No comment
AFG2A	100.00	No comment
SPG7	96.56	No comment
SQSTM1	93.68	No comment
STXBP1	100.00	No comment
SUCLA2	100.00	No comment
SUCLG1	95.74	No comment
SUCLG2	99.95	No comment
SURF1	87.74	No comment
TACO1	99.90	No comment
TANGO2	100.00	No comment
TARS2	100.00	No comment
WWTR1	99.81	No comment
THG1L	100.00	No comment
TIMM44	99.93	No comment
TIMM50	100.00	No comment
TIMM8A	100.00	No comment
TIMMDC1	100.00	No comment
TK2	95.90	No comment
TMEM126A	100.00	No comment
TMEM126B	100.00	No comment
TMEM70	100.00	No comment
TPK1	100.00	No comment
TRIAP1	100.00	No comment
TRIT1	100.00	No comment
TRMT10C	100.00	No comment
TRMT5	100.00	No comment
TRMU	100.00	No comment
TRNT1	100.00	No comment
TSFM	93.22	No comment
TTC19	85.12	No comment
TUFM	100.00	No comment
TWNK	100.00	No comment
TXN2	100.00	No comment
TYMP	91.72	No comment
UBA52	100.00	No comment
UQCC1	100.00	No comment
UQCC2	100.00	No comment
UQCC3	100.00	No comment
UQCR10	100.00	No comment
UQCR11	100.00	No comment
UQCRB	100.00	No comment
UQCRC1	99.82	No comment
UQCRC2	100.00	No comment
UQCRFS1	98.87	No comment
UQCRH	100.00	No comment
UQCRQ	100.00	No comment
VARS2	100.00	No comment
VPS13D	100.00	No comment
WARS2	100.00	No comment
YARS2	100.00	No comment
YME1L1	100.00	No comment

test

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	No comment
ABAT	100.00	No comment
ACTB	99.92	No comment
ACTG1	100.00	No comment
ACTL6B	99.16	No comment
ACY1	99.96	No comment
ADAR	99.99	No comment
ADPRS	91.11	No comment
ADSL	99.73	No comment
AFG3L2	95.23	No comment
ALDH7A1	99.83	No comment
ALG11	100.00	No comment
ALG13	95.29	No comment
AMT	100.00	No comment
ANKRD11	99.99	No comment
AP3B2	97.74	No comment
AP4S1	87.73	No comment
ARFGEF2	99.81	No comment
ARHGEF9	99.89	No comment
ARID1B	87.88	No comment
ARV1	89.03	No comment
ARX	59.32	No comment
ASXL3	99.74	No comment
ATN1	99.12	No comment
ATP1A2	99.88	No comment
ATP1A3	99.81	No comment
BRAT1	99.96	No comment
BSCL2	100.00	No comment
CACNA1A	92.18	No comment
CACNA1B	93.35	No comment
CACNA1E	99.99	No comment
CACNA1G	99.63	No comment
CACNA2D2	94.11	No comment
CASK	99.78	No comment
CDK13	88.47	No comment
CDKL5	97.71	No comment
CERS1	76.68	No comment
CERT1	99.89	No comment
CHD2	99.95	No comment
CLCN4	99.94	No comment
CLN3	99.98	No comment
CLN5	97.84	No comment
CLN6	91.00	No comment
CLN8	100.00	No comment
CLTC	100.00	No comment
CNKSR2	99.28	No comment
CNTNAP2	99.99	No comment
COL18A1	96.27	No comment
COL4A1	98.54	No comment
CPLX1	99.70	No comment
CPT2	97.07	No comment
CSNK2B	100.00	No comment
CSTB	92.54	No comment
CTSD	97.90	No comment
CUX2	98.72	No comment
CYFIP2	99.99	No comment
DCX	99.86	No comment
DDX3X	99.66	No comment
DENND5A	98.99	No comment
DEPDC5	99.97	No comment
DHDDS	99.77	No comment
DMXL2	99.86	No comment
DNM1	94.54	No comment
DNM1L	99.97	No comment
DOCK7	99.35	No comment
DYRK1A	100.00	No comment
EEF1A2	91.59	No comment
EHMT1	98.44	No comment
EPM2A	81.75	No comment
FARS2	99.99	No comment
FGF12	100.00	No comment
FLNA	99.50	No comment
FMN2	92.71	No comment
FMR1	99.71	No comment
FOLR1	100.00	No comment
FOXG1	75.13	No comment
FRRS1L	69.11	No comment
FZR1	100.00	No comment
GABBR2	95.14	No comment
GABRA1	100.00	No comment
GABRA2	100.00	No comment
GABRB1	100.00	No comment
GABRB2	100.00	No comment
GABRB3	98.87	No comment
GABRG2	92.15	No comment
GAD1	100.00	No comment
GAMT	95.00	No comment
GBA1	100.00	No comment
GLDC	96.06	No comment
GNAO1	100.00	No comment
GNB1	100.00	No comment
GNB5	99.70	No comment
GOSR2	99.87	No comment
GPHN	100.00	No comment
GRIA2	100.00	No comment
GRIA3	97.93	No comment
GRIK2	99.97	No comment
GRIN1	99.74	No comment
GRIN2A	100.00	No comment
GRIN2B	100.00	No comment
GRIN2D	61.45	No comment
HCN1	93.52	No comment
HECW2	99.99	No comment
HNRNPU	95.95	No comment
HUWE1	99.62	No comment
IER3IP1	99.80	No comment
IFIH1	99.99	No comment
IQSEC2	91.31	No comment
IRF2BPL	91.18	No comment
ITPA	100.00	No comment
KANSL1	99.98	No comment
KARS1	99.99	No comment
KCNA1	100.00	No comment
KCNA2	100.00	No comment
KCNB1	99.01	No comment
KCNC1	99.52	No comment
KCNH1	99.96	No comment
KCNJ10	100.00	No comment
KCNK4	96.68	No comment
KCNMA1	99.92	No comment
KCNQ2	98.57	No comment
KCNQ3	95.56	No comment
KCNQ5	94.69	No comment
KCNT1	97.66	No comment
KCNT2	100.00	No comment
KCTD7	97.74	No comment
KDM5C	99.69	No comment
KIF1A	99.96	No comment
KIF2A	99.83	No comment
KIF5C	99.91	No comment
KMT2E	99.89	No comment
MAP1B	99.93	No comment
MBD5	100.00	No comment
MECP2	91.83	No comment
MED13L	99.94	No comment
MEF2C	100.00	No comment
MFSD8	100.00	No comment
MOCS1	97.59	No comment
MOCS2	100.00	No comment
MTOR	99.89	No comment
NARS2	99.98	No comment
NBEA	98.89	No comment
NEU1	100.00	No comment
NEXMIF	99.96	No comment
NF1	99.55	No comment
NF2	99.93	No comment
NHLRC1	99.28	No comment
NIPA1	84.21	No comment
NPRL2	100.00	No comment
NPRL3	100.00	No comment
NRXN1	98.90	No comment
NTRK2	100.00	No comment
NUS1	98.46	No comment
OTUD6B	99.73	No comment
PACS2	96.45	No comment
PAFAH1B1	100.00	No comment
PARS2	100.00	No comment
PCDH19	99.80	No comment
PHACTR1	97.55	No comment
PIGA	99.89	No comment
PIGN	99.84	No comment
PIGQ	100.00	No comment
PIGS	100.00	No comment
PIGT	100.00	No comment
PLCB1	99.97	No comment
PLPBP	99.57	No comment
PNKP	99.98	No comment
PNPO	99.98	No comment
POLG	99.86	No comment
PPP2R5D	99.94	No comment
PPP3CA	99.93	No comment
PPT1	100.00	No comment
PRICKLE1	100.00	No comment
PRRT2	100.00	No comment
PTEN	92.28	No comment
PURA	85.06	No comment
QARS1	100.00	No comment
RELN	99.97	No comment
RHOBTB2	99.98	No comment
RNASEH2A	99.99	No comment
RNASEH2B	93.70	No comment
RNASEH2C	95.34	No comment
ROGDI	94.47	No comment
RORA	97.11	No comment
RORB	100.00	No comment
RTN4IP1	100.00	No comment
SAMHD1	100.00	No comment
SCARB2	100.00	No comment
SCN1A	99.91	No comment
SCN1B	95.75	No comment
SCN2A	100.00	No comment
SCN3A	100.00	No comment
SCN8A	99.95	No comment
SERPINI1	99.98	No comment
SETD2	99.95	No comment
SIK1	99.98	No comment
SLC12A5	99.55	No comment
SLC13A5	99.89	No comment
SLC19A3	100.00	No comment
SLC1A2	99.99	No comment
SLC25A12	100.00	No comment
SLC25A22	99.88	No comment
SLC2A1	99.27	No comment
SLC35A2	99.82	No comment
SLC35A3	99.97	No comment
SLC6A1	99.93	No comment
SLC6A8	91.78	No comment
SLC9A6	94.23	No comment
SMARCA2	97.46	No comment
SMC1A	99.50	No comment
SNAP25	100.00	No comment
AFG2A	100.00	No comment
SPTAN1	99.98	No comment
ST3GAL3	100.00	No comment
ST3GAL5	93.40	No comment
STAG1	99.98	No comment
STX1B	99.89	No comment
STXBP1	100.00	No comment
SYN1	75.34	No comment
SYNGAP1	98.18	No comment
SYNJ1	99.27	No comment
SZT2	99.94	No comment
TANC2	100.00	No comment
TBC1D24	99.73	No comment
TBCD	96.99	No comment
TCF4	99.90	No comment
TK2	85.99	No comment
ACD	99.86	No comment
TRAK1	99.99	No comment
TRAPPC6B	100.00	No comment
TREX1	100.00	No comment
TRIT1	99.98	No comment
TSC1	99.97	No comment
TSC2	99.99	No comment
TUBA1A	100.00	No comment
TUBB2B	100.00	No comment
UBA5	99.97	No comment
UBE3A	99.97	No comment
UFC1	99.91	No comment
UGDH	99.96	No comment
VARS1	100.00	No comment
VARS2	100.00	No comment
WDR26	99.78	No comment
WDR45	99.67	No comment
WWOX	100.00	No comment
YWHAG	100.00	No comment
ZBTB18	99.11	No comment
ZEB2	99.91	No comment
ZNHIT3	74.73	No comment