PRNP | Belgian Genetic Tests database

Analyte Export to PDF
Name:	prion protein
Symbol:	PRNP
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	AltPrP CD230 Creutzfeldt-Jakob disease Gerstmann-Strausler-Scheinker syndrome PRP fatal familial insomnia p27-30
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

Inherited Peripheral Neuropathies gene panel (139 genes) - KUL

Details

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

Ataxia (348 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
ABCB7	99.99	No comment
ABCD1	97.56	No comment
ABHD12	88.30	No comment
ABHD5	99.85	No comment
ACADVL	98.04	No comment
ACO2	100.00	No comment
COQ8A	99.92	No comment
AFG3L2	94.80	No comment
AHI1	100.00	No comment
ALAS2	100.00	No comment
ALDH18A1	100.00	No comment
ALDH5A1	84.13	No comment
ALG6	100.00	No comment
ALS2	100.00	No comment
AMACR	96.78	No comment
AMPD2	99.90	No comment
AMT	100.00	No comment
ANO10	100.00	No comment
AP1S2	100.00	No comment
APTX	99.96	No comment
ARL13B	99.98	No comment
ARL6	100.00	No comment
ARSA	100.00	No comment
ARX	100.00	No comment
ASPA	100.00	No comment
ATCAY	100.00	No comment
ATG5	100.00	No comment
ATL1	99.89	No comment
ATM	100.00	No comment
ATP1A3	100.00	No comment
ATP2B2	100.00	No comment
ATP2B3	99.89	No comment
ATP7B	100.00	No comment
ATP8A2	99.91	No comment
ATXN1	100.00	No comment
ATXN10	98.19	No comment
ATXN2	93.25	No comment
ATXN3	99.47	No comment
ATXN7	98.67	No comment
B9D1	99.89	No comment
BBS1	100.00	No comment
BBS10	100.00	No comment
BBS12	100.00	No comment
BBS2	100.00	No comment
BBS4	99.97	No comment
BBS5	100.00	No comment
BBS7	99.99	No comment
BBS9	99.93	No comment
BEAN1	100.00	No comment
BIVM	100.00	No comment
BSCL2	100.00	No comment
BTD	100.00	No comment
TWNK	100.00	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
CPLANE1	100.00	No comment
CA8	100.00	No comment
CACNA1A	99.53	No comment
CACNA1G	99.97	No comment
CACNB4	99.95	No comment
CAMTA1	99.98	No comment
CAPN1	99.97	No comment
CASK	99.99	No comment
CC2D2A	100.00	No comment
CCDC88C	99.64	No comment
CEP290	100.00	No comment
CEP41	100.00	No comment
CHMP1A	100.00	No comment
CLCN2	100.00	No comment
CLN5	98.80	No comment
CLN6	90.40	No comment
CLPP	97.95	No comment
COA7	100.00	No comment
COASY	100.00	No comment
COG5	99.95	No comment
COQ2	99.66	No comment
COQ6	100.00	No comment
COQ9	100.00	No comment
COX20	95.39	No comment
CP	100.00	No comment
CRAT	99.29	No comment
CSTB	98.75	No comment
CWF19L1	100.00	No comment
CYP27A1	99.38	No comment
CYP2U1	93.20	No comment
CYP7B1	95.41	No comment
DARS1	100.00	No comment
DARS2	100.00	No comment
DDB2	100.00	No comment
DDHD2	100.00	No comment
DLAT	100.00	No comment
DMXL2	100.00	No comment
DNAJC19	99.65	No comment
DNAJC3	99.99	No comment
DNAJC5	100.00	No comment
DNMT1	99.54	No comment
EBF3	99.94	No comment
EEF2	100.00	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
ELOVL4	100.00	No comment
ELOVL5	100.00	No comment
EPM2A	97.21	No comment
ERCC2	99.22	No comment
ERCC3	100.00	No comment
ERCC4	99.99	No comment
ERCC5	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
FA2H	95.71	No comment
FARS2	100.00	No comment
FBXL4	100.00	No comment
FDXR	100.00	No comment
FGF14	100.00	No comment
FLVCR1	100.00	No comment
FMR1	99.99	No comment
FOLR1	100.00	No comment
FRMD7	99.98	No comment
FXN	100.00	No comment
GALC	98.98	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCDH	100.00	No comment
GCLC	99.98	No comment
GCSH	73.97	No comment
GFAP	100.00	No comment
GJC2	96.72	No comment
GLB1	100.00	No comment
GLDC	97.39	No comment
GLRX5	100.00	No comment
GM2A	100.00	No comment
GOSR2	100.00	No comment
GPAA1	95.08	No comment
GPR143	89.09	No comment
ADGRG1	99.99	No comment
GRID2	100.00	No comment
GRM1	99.99	No comment
GSS	100.00	No comment
HARS2	100.00	No comment
HEPACAM	99.85	No comment
HERC1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HIBCH	100.00	No comment
HPRT1	92.71	No comment
HTRA1	75.65	No comment
IFRD1	98.86	No comment
IGDCC3	95.07	No comment
INPP5E	99.14	No comment
IRF2BPL	97.56	No comment
ITM2B	100.00	No comment
ITPR1	99.99	No comment
KCNA1	100.00	No comment
KCNC3	76.20	No comment
KCND3	100.00	No comment
KCNJ10	100.00	No comment
KCNJ6	100.00	No comment
KCNMA1	99.93	No comment
WASHC5	100.00	No comment
RUBCN	96.60	No comment
NEXMIF	100.00	No comment
KIF1A	98.74	No comment
KIF1C	100.00	No comment
KIF5A	100.00	No comment
KIF5C	100.00	No comment
KIF7	99.64	No comment
L2HGDH	99.75	No comment
LAMA1	99.79	No comment
LAMB1	100.00	No comment
LARS2	100.00	No comment
LMNB1	97.00	No comment
LRPPRC	98.80	No comment
LYST	100.00	No comment
MFSD8	100.00	No comment
MKKS	100.00	No comment
MKS1	100.00	No comment
MLC1	98.57	No comment
MMACHC	100.00	No comment
MME	100.00	No comment
MRE11	99.05	No comment
MSTO1	99.96	No comment
MTFMT	97.83	No comment
MTPAP	99.98	No comment
MTRR	100.00	No comment
MTTP	100.00	No comment
MVK	100.00	No comment
NANS	100.00	No comment
NDUFAF6	95.61	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS4	99.96	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NEFL	99.62	No comment
NEU1	100.00	No comment
NHLRC1	96.01	No comment
NKX6-2	94.10	No comment
NOL3	100.00	No comment
NOP56	99.99	No comment
NOTCH3	93.46	No comment
NPC1	97.50	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NUBPL	99.92	No comment
OCLN	100.00	No comment
OFD1	97.13	No comment
MED12	99.98	No comment
OPA3	100.00	No comment
OPHN1	99.94	No comment
OTUD4	100.00	No comment
PAX6	100.00	No comment
PDGFRB	99.98	No comment
PDHX	100.00	No comment
PDSS1	85.11	No comment
PDSS2	100.00	No comment
PDYN	100.00	No comment
PEX10	87.10	No comment
PEX16	99.97	No comment
PEX2	100.00	No comment
PEX7	95.60	No comment
PHYH	99.81	No comment
PIK3R5	100.00	No comment
PLA2G6	100.00	No comment
PLEKHG4	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PMPCA	100.00	No comment
PNKD	99.93	No comment
PNKP	99.84	No comment
PNPLA6	99.95	No comment
POLG	100.00	No comment
POLH	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
PPP2R2B	100.00	No comment
PRICKLE1	100.00	No comment
PRKCG	100.00	No comment
PRNP	99.92	No comment
PRPS1	99.91	No comment
PRRT2	100.00	No comment
PTEN	99.45	No comment
PUM1	100.00	No comment
RAB18	99.99	No comment
RAB3A	100.00	No comment
RAB3GAP1	100.00	No comment
RARS2	100.00	No comment
RELN	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2C	100.00	No comment
RNF170	100.00	No comment
RNF216	100.00	No comment
RPGRIP1L	96.40	No comment
RRM2B	100.00	No comment
SACS	99.95	No comment
SAMD9L	100.00	No comment
SAMHD1	100.00	No comment
SAR1B	100.00	No comment
SCN8A	100.00	No comment
SEC16A	99.98	No comment
SEPSECS	99.57	No comment
SERAC1	100.00	No comment
SETX	100.00	No comment
SIL1	99.95	No comment
SKOR1	98.57	No comment
SLC16A2	99.97	No comment
SLC17A5	100.00	No comment
SLC19A3	99.90	No comment
SLC1A3	100.00	No comment
SLC20A2	100.00	No comment
SLC25A15	100.00	No comment
SLC25A46	100.00	No comment
SLC2A1	100.00	No comment
SLC39A8	98.92	No comment
SLC52A2	100.00	No comment
SLC52A3	99.86	No comment
SLC9A1	100.00	No comment
SLC9A6	99.66	No comment
SMPD1	100.00	No comment
SNX14	99.98	No comment
SPAST	99.83	No comment
SPG11	100.00	No comment
SPG7	95.78	No comment
SPR	99.98	No comment
SPTBN2	99.93	No comment
SRD5A3	98.61	No comment
STUB1	99.69	No comment
SYNE1	100.00	No comment
SYT14	92.28	No comment
TANGO2	99.94	No comment
TBC1D20	95.06	No comment
TBCC	100.00	No comment
TBP	100.00	No comment
TCTN1	100.00	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TDP1	100.00	No comment
TDP2	100.00	No comment
TGM6	100.00	No comment
TK2	100.00	No comment
TMEM138	100.00	No comment
TMEM216	99.87	No comment
TMEM231	100.00	No comment
TMEM237	99.85	No comment
TMEM240	96.75	No comment
TMEM67	99.95	No comment
ACD	99.99	No comment
TRIM32	100.00	No comment
TRPC3	99.48	No comment
TSEN2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	91.60	No comment
TSFM	100.00	No comment
TTBK2	100.00	No comment
TTC19	100.00	No comment
TTC8	99.73	No comment
TTPA	96.80	No comment
TUBB4A	100.00	No comment
TUBG1	100.00	No comment
TYMP	100.00	No comment
UBA5	100.00	No comment
VAMP1	100.00	No comment
VLDLR	96.00	No comment
VPS13A	100.00	No comment
VPS13B	100.00	No comment
VPS13D	100.00	No comment
VRK1	100.00	No comment
VWA3B	100.00	No comment
WDPCP	99.11	No comment
WDR73	100.00	No comment
WDR81	99.63	No comment
WFS1	100.00	No comment
WWOX	100.00	No comment
XPA	98.10	No comment
XPC	100.00	No comment
XPR1	99.91	No comment
XRCC1	99.95	No comment
ZC4H2	100.00	No comment
ZFYVE26	100.00	No comment
ZNF423	100.00	No comment
ZNF592	100.00	No comment

Ataxia Spasticity - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AAAS	99.88	1
AARS1	99.99	1
ABCA2	100.00	1
ABCB7	99.58	1
ABCD1	99.98	1
ABHD12	99.98	1
ACO2	99.99	1
ADAR	99.84	1
ADGRG1	99.90	1
ADPRS	99.94	1
AFG3L2	99.97	1
AGTPBP1	99.68	1
AHI1	99.86	1
AIFM1	99.92	1
AIMP1	99.97	1
ALDH18A1	99.96	1
ALDH5A1	96.19	1
ALG6	93.37	1
ALS2	99.87	1
AMPD2	99.91	1
ANO10	99.93	1
AP4B1	96.92	1
AP4E1	99.94	1
AP4M1	99.98	1
AP4S1	87.89	1
AP5Z1	100.00	1
APOB	99.99	1
APTX	99.92	1
ARG1	99.95	1
ARL13B	99.53	1
ARL6IP1	99.51	1
ARSA	99.99	1
ARSI	100.00	1
ARX	95.36	1
ASPA	99.98	1
ATCAY	100.00	1
ATG5	99.81	1
ATL1	99.95	1
ATM	99.83	1
ATP13A2	99.96	1
ATP1A3	99.98	1
ATP2B3	99.98	1
ATP7B	100.00	1
ATP8A2	100.00	1
AUH	99.95	1
B4GALNT1	99.97	1
BCKDHA	99.97	1
BCKDHB	99.73	1
BCL11B	100.00	1
BCS1L	99.99	1
BICD2	99.99	1
BSCL2	99.99	1
BTD	100.00	1
C19ORF12	99.99	1
CA8	99.71	1
CACNA1A	98.16	1
CACNA1E	99.82	1
CACNA1G	99.95	1
CACNB4	99.20	1
CAMTA1	99.97	1
CAPN1	99.99	1
CC2D2A	99.95	1
CCDC88C	100.00	1
CCT5	99.99	1
CDK16	99.99	1
CEP290	98.10	1
CHP1	99.90	1
CLCN2	100.00	1
CNTNAP1	99.98	1
COA7	99.91	1
COQ2	99.90	1
COQ4	100.00	1
COQ8A	100.00	1
COQ9	99.62	1
COX10	99.99	1
COX15	100.00	1
COX20	99.67	1
CP	99.95	1
CPT1C	99.99	1
CSTB	100.00	1
CTBP1	99.98	1
CWF19L1	99.91	1
CYP27A1	100.00	1
CYP2U1	99.99	1
CYP7B1	99.82	1
DAB1	97.87	1
DARS1	98.85	1
DARS2	98.31	1
DBT	94.51	1
DDHD1	99.93	1
DDHD2	99.97	1
DDX3X	99.01	1
DEGS1	99.99	1
DLAT	99.65	1
DLD	99.89	1
DNAJC19	99.76	1
DNAJC3	99.92	1
DNAJC5	99.99	1
DNMT1	99.13	1
DOCK3	99.96	1
EARS2	99.96	1
EBF3	99.99	1
ECHS1	100.00	1
EEF2	99.95	1
EIF2AK1	99.90	1
ELOVL1	100.00	1
ELOVL4	99.91	1
ELOVL5	99.87	1
EMC1	99.85	1
ENTPD1	99.98	1
EPM2A	99.99	1
ERCC1	99.96	1
ERCC4	99.92	1
ERCC8	99.79	1
ERLIN1	99.98	1
ERLIN2	99.94	1
EXOSC3	100.00	1
FA2H	99.98	1
FARS2	100.00	1
FASTKD2	99.93	1
FAT2	99.99	1
FGF14	99.99	1
FITM2	99.99	1
FLRT1	100.00	1
FLVCR1	99.91	1
FOLR1	100.00	1
FRMD4A	100.00	1
FRMD7	99.97	1
GALC	99.92	1
GAN	99.98	1
GBA2	99.99	1
GBE1	99.73	1
GDAP2	95.02	1
GFAP	99.99	1
GFM2	99.87	1
GJC2	100.00	1
GLB1	100.00	1
GLRX5	100.00	1
GLS	99.78	1
GM2A	100.00	1
GOSR2	98.92	1
GPR143	99.60	1
GRID2	99.97	1
GRIN1	100.00	1
GRM1	100.00	1
GRN	100.00	1
GSX2	100.00	1
HACE1	99.76	1
HEXA	99.99	1
HEXB	99.91	1
HSD17B10	99.98	1
HSD17B4	99.71	1
HSPD1	83.42	1
IBA57	100.00	1
IFIH1	99.84	1
IFRD1	99.67	1
IFT140	100.00	1
INTS8	99.89	1
IRF2BPL	99.21	1
ISCA1	99.79	1
ITM2B	99.85	1
ITPR1	99.98	1
JAM2	91.82	1
KANK1	99.99	1
KCNA1	100.00	1
KCNA2	99.99	1
KCNA4	100.00	1
KCNC3	99.98	1
KCND3	99.98	1
KCNJ10	99.98	1
KCNJ6	100.00	1
KCNMA1	99.89	1
KCNQ2	100.00	1
KCTD7	99.98	1
KIDINS220	99.94	1
KIF1A	99.96	1
KIF1C	99.99	1
KIF5A	99.91	1
KLC2	100.00	1
L1CAM	99.98	1
L2HGDH	99.92	1
LAMA1	99.98	1
LAMB1	99.87	1
LIPT2	99.99	1
LYRM7	99.98	1
LYST	99.87	1
ERCC2	99.99	1
MAN2B1	99.99	1
MARS1	99.97	1
MARS2	100.00	1
MCOLN1	100.00	1
MECP2	99.95	1
MLC1	99.99	1
MMADHC	99.76	1
MME	97.17	1
MPV17	99.98	1
MRE11	99.93	1
MRPS34	100.00	1
MSTO1	76.34	1
MTCL1	100.00	1
MTPAP	99.97	1
MTRFR	99.87	1
MTTP	99.92	1
MYORG	99.99	1
NANS	100.00	1
NDUFA9	100.00	1
NDUFAF4	99.95	1
NDUFAF6	99.86	1
NDUFS1	99.79	1
NDUFS3	100.00	1
NDUFS7	99.99	1
NEFL	100.00	1
NEU1	99.98	1
NEXMIF	99.99	1
NF2	100.00	1
NHLRC1	100.00	1
NIPA1	99.91	1
NKX6-2	100.00	1
NOL3	100.00	1
NPC1	99.99	1
NPC2	100.00	1
NT5C2	99.96	1
NTNG2	99.98	1
NUP93	99.87	1
NUS1	99.90	1
OCLN	82.91	1
OFD1	99.68	1
MED12	99.95	1
OPA3	100.00	1
OPHN1	99.92	1
OTC	99.42	1
PARS2	99.99	1
PODXL	99.99	1
PCDH12	100.00	1
PCYT2	100.00	1
PDHA1	99.04	1
PDHX	99.64	1
PDYN	100.00	1
PEX10	100.00	1
PEX16	99.94	1
PEX7	99.72	1
PGAP1	99.56	1
PHYH	100.00	1
PIK3R5	99.99	1
PLA2G6	99.98	1
PLAA	99.79	1
PLD3	99.99	1
PLP1	99.98	1
PMM2	99.93	1
PMPCA	99.99	1
PMPCB	99.94	1
PNKP	100.00	1
PNPLA6	99.99	1
POLG	100.00	1
POLR3A	99.97	1
POLR3B	99.94	1
PRF1	100.00	1
PRKCG	99.99	1
PRNP	100.00	1
PRPS1	99.95	1
PRRT2	99.97	1
PSAP	99.94	1
PSEN1	100.00	1
PTPN23	100.00	1
PTRH2	99.99	1
PUM1	98.14	1
RAB11B	100.00	1
RAB18	99.76	1
RAB3GAP1	99.73	1
RAB3GAP2	99.69	1
REEP1	99.97	1
REEP2	99.99	1
RETREG1	99.99	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNF168	99.97	1
RNF170	99.90	1
RNF216	99.99	1
RORA	99.97	1
RPGRIP1L	96.35	1
RTN2	99.98	1
RTN4IP1	99.98	1
RUBCN	100.00	1
SACS	99.97	1
SAMD9L	99.95	1
SAMHD1	99.98	1
SARS1	98.53	1
SCN8A	99.77	1
SCYL1	100.00	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHD	82.93	1
SEPSECS	99.78	1
SETX	99.97	1
SIL1	99.95	1
SLC13A5	99.99	1
SLC16A2	99.97	1
SLC17A5	99.71	1
SLC19A3	99.95	1
SLC1A3	99.98	1
SLC1A4	99.97	1
SLC25A15	100.00	1
SLC25A46	99.88	1
SLC2A1	99.93	1
SLC33A1	99.67	1
SLC44A1	99.90	1
SLC52A2	100.00	1
SLC52A3	99.94	1
SLC6A8	99.99	1
SLC9A1	99.96	1
SLC9A6	99.42	1
SMPD1	100.00	1
SNAP25	99.89	1
SNX14	99.73	1
SOX10	100.00	1
SPART	99.98	1
SPAST	99.77	1
SPG11	99.89	1
SPG21	99.97	1
SPG7	99.99	1
SPR	99.99	1
SPTAN1	99.96	1
SPTBN2	99.98	1
SQSTM1	100.00	1
SRD5A3	99.94	1
STUB1	99.99	1
SUCLA2	99.96	1
SUOX	100.00	1
SURF1	100.00	1
SVBP	99.04	1
SYNE1	99.95	1
SYT14	99.94	1
TANGO2	99.85	1
TBC1D20	100.00	1
TDP1	99.97	1
TDP2	99.97	1
TECPR2	99.96	1
TENM3	99.99	1
TFG	98.68	1
TGM6	99.99	1
THG1L	99.99	1
TMEM216	99.98	1
TMEM231	88.88	1
TMEM240	99.99	1
TMEM67	99.69	1
TMX2	99.99	1
ACD	99.99	1
TRAK1	99.98	1
TRAPPC12	99.96	1
TRAPPC4	100.00	1
TRIT1	99.25	1
TRPC3	99.97	1
TSEN2	99.98	1
TSEN54	100.00	1
TTBK2	99.93	1
TTC19	99.99	1
TTPA	99.88	1
TUBA1A	99.97	1
TUBB4A	100.00	1
TUBG1	99.95	1
TWNK	100.00	1
UBA5	99.95	1
UBAP1	99.51	1
UBTF	99.99	1
UCHL1	99.99	1
UFC1	99.35	1
UFM1	99.25	1
UGP2	99.85	1
USP8	99.67	1
VAMP1	100.00	1
VCP	99.99	1
VLDLR	99.99	1
VPS13B	99.90	1
VPS13D	99.96	1
VPS37A	99.96	1
VRK1	99.98	1
VWA3B	98.82	1
WARS2	97.72	1
WASHC5	99.98	1
WDR45B	100.00	1
WDR48	99.42	1
WDR73	99.92	1
WDR81	100.00	1
WWOX	100.00	1
XRCC1	99.96	1
ZC4H2	99.98	1
ZFR	99.94	1
ZFYVE26	100.00	1
ZFYVE27	99.99	1

Cardiomyopathy, hereditary (208 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCC9	100.00	No comment
ACAD9	100.00	No comment
ACADVL	98.89	No comment
ACE	97.11	No comment
ACTA1	100.00	No comment
ACTC1	100.00	No comment
ACTN2	100.00	No comment
ADD3	100.00	No comment
ADRB2	100.00	No comment
AGXT	100.00	No comment
AGTR1	100.00	No comment
AKAP9	100.00	No comment
ALPK3	98.02	No comment
ANKRD1	100.00	No comment
APOA1	99.97	No comment
B2M	100.00	No comment
BAG3	100.00	No comment
BRAF	96.97	No comment
CACNA1C	100.00	No comment
CACNB2	100.00	No comment
CALM1	100.00	No comment
CALM2	100.00	No comment
CALM3	99.99	No comment
CALR3	100.00	No comment
CASQ2	100.00	No comment
CASZ1	95.56	No comment
CAV3	100.00	No comment
CAVIN4	100.00	No comment
CBL	100.00	No comment
CDH2	97.48	No comment
CHRM2	100.00	No comment
CMYA5	99.99	No comment
CNBP	100.00	No comment
COA5	100.00	No comment
COA6	100.00	No comment
COX10	100.00	No comment
COX15	100.00	No comment
CRYAB	100.00	No comment
CSRP3	100.00	No comment
CTF1	30.96	No comment
CTNNA3	100.00	No comment
DES	100.00	No comment
DLG1	100.00	No comment
DMD	100.00	No comment
DNAJC19	100.00	No comment
DNM1L	100.00	No comment
DOLK	100.00	No comment
DSC3	98.44	No comment
DSG2	99.61	No comment
DSP	100.00	No comment
DTNA	100.00	No comment
ECRG4	99.32	No comment
ELAC2	99.99	No comment
ELN	100.00	No comment
EMD	99.84	No comment
EYA4	100.00	No comment
FBXO32	100.00	No comment
CFH	100.00	No comment
FHL2	100.00	No comment
FHOD3	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNC	100.00	No comment
FLT1	99.53	No comment
FOXD4	100.00	No comment
FXN	89.89	No comment
GAA	100.00	No comment
GATA4	80.69	No comment
GATA5	97.28	No comment
GATA6	81.11	No comment
GATAD1	88.18	No comment
GLA	100.00	No comment
GTPBP3	100.00	No comment
HACD1	95.46	No comment
HADHB	100.00	No comment
HAND1	100.00	No comment
HCN4	92.35	No comment
HIF1A	100.00	No comment
HRAS	100.00	No comment
HSPB6	99.65	No comment
HSPB7	100.00	No comment
ILK	100.00	No comment
INS-IGF2	99.94	No comment
ISL1	100.00	No comment
JPH2	95.10	No comment
JUP	100.00	No comment
KARS1	100.00	No comment
KAT2B	94.80	No comment
KCND2	100.00	No comment
KCNE1	100.00	No comment
KCNH2	94.44	No comment
KCNJ12	100.00	No comment
KCNQ1	91.07	No comment
KIF20A	100.00	No comment
KLF10	100.00	No comment
LAMA2	100.00	No comment
LAMA4	100.00	No comment
LAMP2	100.00	No comment
LDB3	100.00	No comment
LMNA	99.93	No comment
LRRC10	100.00	No comment
MAP2K1	100.00	No comment
MAP2K2	99.98	No comment
MIB1	100.00	No comment
MIB2	99.31	No comment
MRPL3	100.00	No comment
MRPL44	100.00	No comment
MTO1	95.75	No comment
MYBPC3	100.00	No comment
MYH15	100.00	No comment
MYH6	100.00	No comment
MYH7	100.00	No comment
MYH7B	99.96	No comment
MYL2	100.00	No comment
MYL3	100.00	No comment
MYLK2	100.00	No comment
MYO6	100.00	No comment
MYOM1	100.00	No comment
MYOM3	100.00	No comment
MYOZ1	100.00	No comment
MYOZ2	100.00	No comment
MYPN	100.00	No comment
NAA10	96.03	No comment
NCOA6	100.00	No comment
NDUFAF1	100.00	No comment
NDUFV2	100.00	No comment
NEB	99.99	No comment
NEBL	100.00	No comment
NEXN	100.00	No comment
NKX2-5	100.00	No comment
NPPA	100.00	No comment
NRAP	100.00	No comment
OBSCN	99.26	No comment
OBSL1	98.31	No comment
MED12	100.00	No comment
PDLIM3	100.00	No comment
PKP2	99.87	No comment
PLEC	99.82	No comment
PLEKHM2	99.60	No comment
PLN	100.00	No comment
PPCS	100.00	No comment
PRDM16	100.00	No comment
PRKAG2	95.88	No comment
PRNP	100.00	No comment
PSEN1	100.00	No comment
PSEN2	100.00	No comment
PTEN	98.86	No comment
PTPN11	98.80	No comment
RAF1	100.00	No comment
RANGRF	100.00	No comment
RBM20	99.82	No comment
RIT1	100.00	No comment
RPSA	97.87	No comment
RRAGC	99.99	No comment
RTKN2	100.00	No comment
RYR2	100.00	No comment
S100A1	100.00	No comment
SCN4B	100.00	No comment
SCN5A	100.00	No comment
SDHA	98.02	No comment
SGCB	94.58	No comment
SGCD	100.00	No comment
SGCG	100.00	No comment
SGK1	99.99	No comment
SHOC2	100.00	No comment
SLC12A1	100.00	No comment
SLC22A5	100.00	No comment
SLC25A3	100.00	No comment
SLC25A4	99.09	No comment
SMC1A	100.00	No comment
SNTA1	84.25	No comment
SOD2	100.00	No comment
SOS1	100.00	No comment
SYNE1	100.00	No comment
SYNE2	100.00	No comment
SYNM	92.59	No comment
TAF1A	100.00	No comment
TAX1BP3	100.00	No comment
WWTR1	99.81	No comment
TBX20	100.00	No comment
TBX5	100.00	No comment
TCAP	100.00	No comment
TCF21	100.00	No comment
TGFB3	100.00	No comment
TJP1	99.14	No comment
TK2	95.90	No comment
TMED4	100.00	No comment
TMEM43	100.00	No comment
TMEM87B	99.37	No comment
TMPO	99.87	No comment
TNNI3	100.00	No comment
TNNI3K	100.00	No comment
TNNT2	100.00	No comment
TNNT3	100.00	No comment
TPM1	99.98	No comment
TRIM54	99.66	No comment
TRIM55	100.00	No comment
TRIM63	100.00	No comment
TRPM4	100.00	No comment
TSFM	93.22	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TXNRD2	96.90	No comment
VCL	100.00	No comment
VEGFA	98.73	No comment
YWHAE	98.69	No comment
ZBTB17	100.00	No comment

Dementia, young onset (gene panel)

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
APOE	100.00	1
APP	100.00	1
CHCHD10	100.00	1
CHMP2B	100.00	1
CSF1R	100.00	1
FUS	100.00	1
GRN	100.00	1
HTRA1	95.00	1
ITM2B	100.00	1
MAPT	100.00	1
NOTCH3	98.00	1
OPTN	100.00	1
PRNP	100.00	1
PSEN1	100.00	1
PSEN2	100.00	1
TARDBP	100.00	1
TBK1	100.00	1
TREM2	100.00	1
TYROBP	100.00	1
UBQLN2	100.00	1
VCP	100.00	1

Movement Disorders - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.99	1
ACTB	100.00	1
ACTL6B	99.90	1
ADAR	99.84	1
ADCY5	99.98	1
ADH1C	99.94	1
AFG3L2	99.97	1
ALDH5A1	96.19	1
ANO3	99.98	1
AP3D1	100.00	1
AP4M1	99.98	1
APTX	99.92	1
ARSA	99.99	1
ARV1	99.85	1
ARX	95.36	1
ATM	99.83	1
ATP13A2	99.96	1
ATP1A3	99.98	1
ATP6AP2	99.55	1
ATP7B	100.00	1
ATP8A2	100.00	1
ATXN2	99.88	1
AUH	99.95	1
BCAP31	99.95	1
BCS1L	99.99	1
C19ORF12	99.99	1
CACNA1A	99.98	1
CACNA1B	100.00	1
CACNA1E	99.82	1
CARS2	99.99	1
CHCHD2	99.89	1
CHMP2B	99.80	1
CHRNA4	100.00	1
CHRNB2	99.99	1
CIZ1	99.94	1
CLPB	99.97	1
CNTNAP1	99.98	1
COASY	99.98	1
COL6A3	99.99	1
COQ9	99.62	1
COX10	99.99	1
COX15	100.00	1
CP	99.95	1
CRAT	99.99	1
CSF1R	99.92	1
CTC1	100.00	1
CYP27A1	100.00	1
DCAF17	99.84	1
DCTN1	99.98	1
DDC	99.67	1
DEGS1	99.99	1
DHDDS	98.65	1
DHX30	99.96	1
DLAT	99.65	1
DLD	99.89	1
DMXL2	99.86	1
DNAJC13	99.86	1
DNAJC5	99.99	1
DNAJC6	99.48	1
DNAL4	99.89	1
DRD3	100.00	1
EARS2	99.96	1
ECHS1	100.00	1
EEF1A2	100.00	1
EIF4G1	100.00	1
EPRS1	99.53	1
ETHE1	84.97	1
FA2H	99.98	1
FASTKD2	99.93	1
FBXO7	99.98	1
FITM2	99.99	1
FOXG1	99.91	1
FOXRED1	100.00	1
FTL	99.99	1
FUCA1	98.72	1
FUS	99.93	1
GABRB2	99.92	1
GAMT	100.00	1
GBA1	96.92	1
GBE1	99.73	1
GCDH	100.00	1
GCH1	99.94	1
GFAP	99.99	1
GFM2	99.87	1
GIGYF2	99.94	1
GJC2	100.00	1
GLB1	100.00	1
GRID2	100.00	1
GM2A	100.00	1
GNAL	100.00	1
GNAO1	99.86	1
GNB1	100.00	1
GPR88	100.00	1
GRIN1	100.00	1
GRIN2B	99.99	1
GRN	100.00	1
GSX2	100.00	1
GTPBP2	99.98	1
HEXA	99.99	1
HIBCH	99.70	1
HPRT1	97.80	1
HSD17B10	99.98	1
HTRA2	99.99	1
HTT	99.98	1
IFIH1	99.84	1
IREB2	99.90	1
IRF2BPL	99.21	1
JAM2	91.82	1
JPH3	100.00	1
KCNA4	100.00	1
KCNMA1	99.89	1
KCNQ2	100.00	1
KCTD17	100.00	1
KMT2B	99.99	1
LIPT1	99.89	1
LIPT2	99.99	1
LRP10	99.99	1
LRPPRC	99.80	1
LRRK2	99.44	1
LYST	99.87	1
MAPT	99.80	1
MAT1A	99.70	1
MCOLN1	100.00	1
MDH2	99.54	1
MECP2	99.95	1
MECR	99.63	1
MED20	99.99	1
MICU1	99.56	1
MMADHC	99.76	1
MPV17	99.98	1
MRE11	99.93	1
MRPS34	100.00	1
MYBPC1	99.77	1
MYORG	99.99	1
NAXD	99.99	1
NDUFA1	99.93	1
NDUFA10	99.98	1
NDUFA12	99.21	1
NDUFA9	100.00	1
NDUFAF4	99.95	1
NDUFAF6	99.86	1
NDUFS1	99.79	1
NDUFS3	100.00	1
NDUFS7	99.99	1
NDUFS8	100.00	1
NHLRC2	99.83	1
NKX2-1	100.00	1
NKX6-2	100.00	1
NPC1	99.99	1
NPC2	100.00	1
NTNG2	99.98	1
NUP62	100.00	1
PANK2	99.99	1
PARK7	99.93	1
PCCA	99.90	1
PCCB	99.97	1
PCDH12	100.00	1
PCDH19	99.98	1
PDE10A	87.37	1
PDE8B	99.98	1
PDGFB	99.99	1
PDGFRB	99.99	1
PDHA1	99.04	1
PDHX	99.64	1
PEAR1	99.89	1
PEX16	99.94	1
PINK1	99.69	1
PLA2G6	99.98	1
PLEKHG2	99.99	1
PLP1	99.98	1
PMPCB	99.94	1
PNKD	100.00	1
PNKP	100.00	1
PNPLA8	99.92	1
PNPT1	99.56	1
PODXL	93.29	1
POLG	100.00	1
POLR3A	99.97	1
PON1	99.70	1
PRKN	99.99	1
PRKRA	99.94	1
PRNP	100.00	1
PRRT2	99.97	1
PTRHD1	100.00	1
PTS	99.93	1
QDPR	99.92	1
RAB11B	100.00	1
RAB39B	99.99	1
RAD51	90.17	1
RELN	99.98	1
REPS1	99.93	1
RHOBTB2	100.00	1
RIC3	100.00	1
RNF216	99.99	1
SCN11A	99.94	1
SCN4A	99.98	1
SCN8A	99.77	1
SCP2	94.94	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHD	82.93	1
SEPSECS	99.78	1
SERAC1	99.90	1
SETX	99.97	1
SGCE	93.12	1
SLC18A2	100.00	1
SLC19A3	99.95	1
SLC20A2	99.95	1
SLC25A42	99.99	1
SLC2A1	99.93	1
SLC30A10	99.99	1
SLC30A9	99.75	1
SLC39A14	92.87	1
SLC44A1	99.90	1
SLC6A3	99.96	1
SLC6A8	99.99	1
SMPD1	100.00	1
SNCA	99.97	1
SNCAIP	99.99	1
SPG11	99.89	1
SPR	99.99	1
SQSTM1	100.00	1
STUB1	99.99	1
SUCLA2	99.96	1
SUOX	100.00	1
SURF1	100.00	1
SYNJ1	99.91	1
SYT1	99.70	1
TAF1	99.84	1
TANGO2	99.85	1
TBC1D24	100.00	1
TENM4	99.99	1
TH	99.99	1
THAP1	99.96	1
TIMM8A	100.00	1
TOR1A	100.00	1
TPI1	99.95	1
TPK1	99.96	1
TRAK1	99.98	1
TRAPPC11	99.93	1
TRAPPC12	99.96	1
TRIT1	99.25	1
TSEN2	99.98	1
TSFM	100.00	1
TUBB4A	100.00	1
TXN2	99.88	1
UBA5	99.95	1
UBTF	99.99	1
UCHL1	99.99	1
UFM1	99.25	1
UGDH	99.77	1
UQCRQ	99.96	1
VAC14	99.91	1
VAMP2	100.00	1
VCP	99.99	1
VPS13A	99.68	1
VPS13C	99.65	1
VPS13D	99.96	1
VPS16	100.00	1
VPS35	99.83	1
WARS2	97.72	1
WDR45	99.99	1
WDR73	99.92	1
XK	99.98	1
XPR1	99.13	1
YY1	100.00	1
ZC4H2	99.98	1
ZNF142	100.00	1

Movement Disorders - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	0
ABAT	100.00	0
ACTB	100.00	0
ACTL6B	100.00	0
ADAR	100.00	0
ADCY5	94.82	0
ADPRS	97.19	0
AFG3L2	95.73	0
AGTPBP1	97.48	0
AIMP1	100.00	0
ALDH5A1	91.82	0
ALG13	99.52	0
ALG6	100.00	0
ALS2	100.00	0
AMT	100.00	0
ANO3	99.99	0
AOPEP	98.17	0
AP3D1	100.00	0
AP4M1	100.00	0
AP5Z1	100.00	0
APTX	100.00	0
ARG1	100.00	0
ARHGEF9	100.00	0
ARSA	100.00	0
ARV1	100.00	0
ARX	76.27	0
ASAH1	100.00	0
ASNS	100.00	0
ASS1	100.00	0
ATAD1	100.00	0
ATCAY	100.00	0
ATM	100.00	0
ATN1	100.00	0
ATP13A2	99.13	0
ATP1A2	99.91	0
ATP1A3	100.00	0
ATP6AP2	98.93	0
ATP7B	100.00	0
ATP8A2	100.00	0
ATXN2	97.08	0
AUH	98.84	0
BCAP31	100.00	0
BCKDHA	100.00	0
BCKDHB	100.00	0
BCS1L	100.00	0
BSCL2	100.00	0
BTK	100.00	0
C19ORF12	100.00	0
C9ORF72	100.00	0
CA8	100.00	0
CACNA1A	100.00	0
CACNA1B	95.99	0
CACNA1E	99.97	0
CACNA1G	100.00	0
CACNB4	100.00	0
CARS2	95.22	0
CBS	100.00	0
CDKL5	99.33	0
CEP290	99.99	0
CHCHD2	100.00	0
CHMP2B	100.00	0
CHRNA2	99.97	0
CHRNA4	99.98	0
CHRNB2	100.00	0
CIZ1	99.96	0
CLCN2	100.00	0
CLCN3	100.00	0
CLCN6	100.00	0
CLPB	100.00	0
CLTC	100.00	0
CNTNAP1	100.00	0
COASY	100.00	0
COL6A3	100.00	0
COQ8A	100.00	0
COQ9	100.00	0
COX10	100.00	0
COX15	100.00	0
COX20	100.00	0
CP	99.98	0
CRAT	100.00	0
CRH	100.00	0
CRLF1	89.13	0
CSF1R	100.00	0
CSTB	100.00	0
CTC1	100.00	0
CTDP1	90.20	0
CTNNB1	100.00	0
CTSA	100.00	0
CTSD	100.00	0
CTSF	89.18	0
CUL4B	98.64	0
CWF19L1	100.00	0
CYB5R3	95.77	0
CYFIP2	100.00	0
CYP27A1	99.38	0
DARS1	100.00	0
DBT	100.00	0
DCAF17	99.11	0
DCC	100.00	0
DCTN1	100.00	0
DDC	100.00	0
DEGS1	100.00	0
DEPDC5	100.00	0
DHDDS	100.00	0
DHX30	100.00	0
DLAT	100.00	0
DLD	100.00	0
DMXL2	99.99	0
DNAJB2	100.00	0
DNAJC12	100.00	0
DNAJC13	100.00	0
DNAJC19	100.00	0
DNAJC5	100.00	0
DNAJC6	100.00	0
DNAL4	100.00	0
DNM1L	100.00	0
DNMT1	99.83	0
EARS2	100.00	0
ECHS1	100.00	0
EEF1A2	98.47	0
ELOVL4	100.00	0
EPRS1	100.00	0
ETHE1	100.00	0
FA2H	92.84	0
FARS2	100.00	0
FASTKD2	100.00	0
FBXL4	100.00	0
FBXO7	100.00	0
FGF14	100.00	0
FITM2	100.00	0
FOLR1	100.00	0
FOXG1	87.63	0
FOXRED1	100.00	0
FRRS1L	87.33	0
FTL	100.00	0
FUCA1	99.67	0
FUS	100.00	0
FXN	96.07	0
GABRA2	100.00	0
GABRB2	100.00	0
GALT	100.00	0
GAMT	98.07	0
GBA1	100.00	0
GBE1	100.00	0
GCDH	100.00	0
GCH1	98.16	0
GFAP	100.00	0
GFM1	100.00	0
GFM2	99.99	0
GJC2	88.27	0
GLB1	100.00	0
GLDC	97.21	0
GLRA1	100.00	0
GLRB	100.00	0
GM2A	100.00	0
GNAL	100.00	0
GNAO1	100.00	0
GNB1	100.00	0
GOSR2	100.00	0
GPHN	100.00	0
GPR88	77.04	0
GRID2	100.00	0
GRIN1	100.00	0
GRIN2B	100.00	0
GRN	100.00	0
GSX2	100.00	0
GTPBP2	99.48	0
HECW2	100.00	0
HEXA	100.00	0
HEXB	99.87	0
HIBCH	100.00	0
HPRT1	97.15	0
HSD17B10	100.00	0
HTT	99.18	0
IFIH1	100.00	0
IREB2	100.00	0
IRF2BPL	99.88	0
IVD	100.00	0
JAM2	100.00	0
JPH3	100.00	0
KCNA1	100.00	0
KCNA2	100.00	0
KCNA4	100.00	0
KCNC3	78.67	0
KCND3	100.00	0
KCNMA1	100.00	0
KCNQ2	100.00	0
KCNT1	99.92	0
KCTD17	95.63	0
KCTD7	99.64	0
KIF1C	100.00	0
KIF5A	100.00	0
KMT2B	96.75	0
L2HGDH	100.00	0
LIAS	100.00	0
LIPT1	100.00	0
LIPT2	92.08	0
LMNB1	98.51	0
LRPPRC	100.00	0
LRRK2	100.00	0
LYST	100.00	0
MAPT	100.00	0
MARS2	100.00	0
MCEE	100.00	0
MCOLN1	98.10	0
MDH2	100.00	0
MECP2	100.00	0
MECR	100.00	0
MED20	100.00	0
MEF2C	100.00	0
MFSD8	100.00	0
MICU1	100.00	0
MMAA	100.00	0
MMAB	100.00	0
MMADHC	100.00	0
MMUT	100.00	0
MPV17	100.00	0
MRE11	100.00	0
MRPS34	99.28	0
MTHFR	100.00	0
MTR	100.00	0
MTRFR	100.00	0
MTRR	100.00	0
MYBPC1	100.00	0
MYORG	100.00	0
NALCN	100.00	0
NAXD	100.00	0
NDUFA1	100.00	0
NDUFA10	99.52	0
NDUFA12	100.00	0
NDUFA2	100.00	0
NDUFA9	100.00	0
NDUFAF2	100.00	0
NDUFAF4	100.00	0
NDUFAF5	100.00	0
NDUFAF6	95.34	0
NDUFS1	100.00	0
NDUFS3	100.00	0
NDUFS4	100.00	0
NDUFS7	100.00	0
NDUFS8	100.00	0
NDUFV1	100.00	0
NEU1	100.00	0
NGLY1	100.00	0
NHLRC2	100.00	0
NKX2-1	89.99	0
NKX6-2	70.62	0
NPC1	100.00	0
NPC2	100.00	0
NTN1	94.10	0
NTNG2	91.87	0
NUP62	100.00	0
MED12	100.00	0
OPA3	100.00	0
PAH	100.00	0
PANK2	95.70	0
PARK7	100.00	0
PODXL	96.85	0
PCBD1	92.74	0
PCCA	100.00	0
PCCB	100.00	0
PCDH12	100.00	0
PCDH19	100.00	0
PDE10A	100.00	0
PDE2A	100.00	0
PDE8B	97.56	0
PDGFB	100.00	0
PDGFRB	100.00	0
PDHA1	100.00	0
PDHB	100.00	0
PDHX	100.00	0
PDYN	100.00	0
PEX16	100.00	0
PGK1	100.00	0
PIGP	100.00	0
PINK1	91.10	0
PLA2G6	100.00	0
PLEKHG2	100.00	0
PLP1	100.00	0
PMM2	100.00	0
PMPCB	100.00	0
PNKD	100.00	0
PNKP	100.00	0
PNPLA8	100.00	0
PNPT1	100.00	0
POLG	100.00	0
POLR1C	100.00	0
POLR3A	100.00	0
PPT1	100.00	0
PRICKLE1	100.00	0
PRKCG	100.00	0
PRKN	100.00	0
PRKRA	100.00	0
PRNP	100.00	0
PRRT2	100.00	0
PTRHD1	100.00	0
PTS	100.00	0
PUM1	100.00	0
PURA	88.25	0
QDPR	99.38	0
RAB11B	100.00	0
RAB39B	100.00	0
RAD51	100.00	0
RELN	100.00	0
REPS1	100.00	0
RHOBTB2	100.00	0
RNF216	100.00	0
SACS	100.00	0
SCARB2	100.00	0
SCN11A	99.99	0
SCN1A	100.00	0
SCN2A	100.00	0
SCN4A	100.00	0
SCN8A	100.00	0
SCP2	100.00	0
SCYL1	100.00	0
SDHA	98.70	0
SDHAF1	96.31	0
SDHD	100.00	0
SEPSECS	100.00	0
SERAC1	100.00	0
SETD5	100.00	0
SETX	100.00	0
SGCE	100.00	0
SLC16A2	100.00	0
SLC18A2	100.00	0
SLC19A3	99.96	0
SLC1A3	100.00	0
SLC20A2	100.00	0
SLC25A19	100.00	0
SLC25A42	99.96	0
SLC2A1	100.00	0
SLC30A10	100.00	0
SLC30A9	100.00	0
SLC39A14	99.95	0
SLC39A8	99.72	0
SLC44A1	97.36	0
SLC6A1	100.00	0
SLC6A3	100.00	0
SLC6A5	100.00	0
SLC6A8	96.54	0
SLC9A6	97.84	0
SMPD1	100.00	0
SNCA	100.00	0
SPG11	100.00	0
SPOP	100.00	0
SPR	97.94	0
SPTBN2	100.00	0
SQSTM1	95.44	0
SRD5A3	98.74	0
ST3GAL5	92.43	0
STUB1	99.46	0
STXBP1	100.00	0
SUCLA2	100.00	0
SUCLG1	99.97	0
SUMF1	100.00	0
SUOX	100.00	0
SURF1	92.90	0
SYNE1	100.00	0
SYNJ1	100.00	0
SYT1	100.00	0
TACO1	99.96	0
TAF1	100.00	0
TANGO2	100.00	0
TARDBP	100.00	0
TBC1D24	100.00	0
TBK1	100.00	0
TBL1XR1	100.00	0
TENM4	100.00	0
TGM6	100.00	0
TH	100.00	0
THAP1	100.00	0
TIMM8A	100.00	0
TMEM240	100.00	0
TOR1A	100.00	0
TPI1	100.00	0
TPK1	100.00	0
TRAK1	100.00	0
TRAPPC11	100.00	0
TRAPPC12	100.00	0
TREM2	100.00	0
TRIT1	100.00	0
TSC1	100.00	0
TSC2	100.00	0
TSEN2	100.00	0
TSEN54	94.95	0
TSFM	92.64	0
TTPA	87.42	0
TUBB4A	100.00	0
TXN2	100.00	0
TYROBP	100.00	0
UBA5	100.00	0
UBQLN2	99.91	0
UBR4	99.78	0
UBTF	100.00	0
UFM1	100.00	0
UGDH	100.00	0
UNC13A	99.92	0
UQCRQ	100.00	0
VAC14	100.00	0
VAMP1	100.00	0
VAMP2	100.00	0
VCP	98.45	0
VPS13A	100.00	0
VPS13C	100.00	0
VPS13D	100.00	0
VPS16	100.00	0
VPS35	100.00	0
VPS41	100.00	0
VPS4A	100.00	0
VWA3B	100.00	0
WARS2	100.00	0
WDR45	100.00	0
WDR73	100.00	0
WDR81	100.00	0
WWOX	100.00	0
XK	99.86	0
XPA	99.77	0
XPC	100.00	0
XPR1	100.00	0
YY1	100.00	0
ZC4H2	100.00	0
ZFYVE26	100.00	0
ZNF142	100.00	0

Neurodegeneration (99 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ANG	100.00	1	NM_001145.4
ANXA11	100.00	1	NM_145868.2
APP	100.00	1	NM_000484.4
ATP13A2	100.00	1	NM_022089.4
CHMP2B	100.00	1	NM_014043.4
DCTN1	100.00	1	NM_004082.4
ERBB4	100.00	1	NM_005235.3
FIG4	100.00	1	NM_014845.6
FUS	100.00	1	NM_004960.4
GBA1	100.00	1	NM_000157.4
GRN	100.00	1	NM_002087.3
KIF5A	100.00	1	NM_004984.4
LRRK2	100.00	1	NM_198578.4
MAPT	100.00	1	NM_001123066.3
MATR3	100.00	1	NM_018834.6
NEFH	100.00	1	NM_021076.4
NEK1	100.00	1	NM_001199397.3
NOTCH3	100.00	1	NM_000435.3
OPTN	100.00	1	NM_001008212.2
PARK7	100.00	1	NM_007262.5
PFN1	100.00	1	NM_005022.4
PINK1	100.00	1	NM_032409.3
PRKN	100.00	1	NM_004562.3
PRNP	100.00	1	NM_000311.5
PRPH	100.00	1	NM_006262.4
PSEN1	100.00	1	NM_000021.4
PSEN2	100.00	1	NM_000447.3
SETX	100.00	1	NM_015046.7
SIGMAR1	100.00	1	NM_005866.4
SNCA	100.00	1	NM_000345.4
SOD1	100.00	1	NM_000454.5
SPG11	100.00	1	NM_025137.4
TARDBP	100.00	1	NM_007375.4
TUBA4A	100.00	1	NM_006000.3
UBQLN2	100.00	1	NM_013444.3
VAPB	100.00	1	NM_004738.5
VCP	100.00	1	NM_007126.5
AARS2	100.00	1	NM_020745.4
ABAT	100.00	1	NM_020686.6
ABCB7	100.00	1	NM_001271696.3
ABCD1	100.00	1	NM_000033.4
ADPRS	100.00	1	NM_017825.3
AFG3L2	100.00	1	NM_006796.3
AP5Z1	100.00	1	NM_014855.3
APOE	100.00	1	NM_000041.4
ARSA	100.00	1	NM_000487.6
ATP1A3	100.00	1	NM_152296.5
ATP6AP2	100.00	1	NM_005765.3
C19ORF12	100.00	1	NM_031448.6
C9ORF72	100.00	1	NM_018325.5
CCNF	100.00	1	NM_001761.3
CHCHD10	100.00	1	NM_213720.3
CHCHD2	100.00	1	NM_016139.4
CLN3	100.00	1	NM_001042432.2
CLN5	100.00	1	NM_006493.4
CLN6	100.00	1	NM_017882.3
CLN8	100.00	1	NM_018941.4
COA7	100.00	1	NM_023077.3
COASY	100.00	1	NM_025233.7
CRAT	100.00	1	NM_000755.5
CSF1R	100.00	1	NM_005211.3
CTSD	100.00	1	NM_001909.5
CTSF	100.00	1	NM_003793.4
DNAJC13	100.00	1	NM_015268.4
DNAJC5	100.00	1	NM_025219.3
DNAJC6	100.00	1	NM_001256864.2
EIF4G1	100.00	1	NM_198241.3
FA2H	100.00	1	NM_024306.5
FBXO7	100.00	1	NM_012179.4
FTL	100.00	1	NM_000146.4
FXN	100.00	1	NM_000144.5
GCH1	100.00	1	NM_000161.3
GIGYF2	100.00	1	NM_001103146.3
GLUD2	100.00	1	NM_012084.4
GRID2	100.00	1	NM_001510.4
IREB2	100.00	1	NM_004136.4
ITM2B	100.00	1	NM_021999.5
KLC4	100.00	1	NM_201521.3
MFSD8	100.00	1	NM_001371596.2
NPC1	100.00	1	NM_000271.5
NPC2	100.00	1	NM_006432.5
PANK2	100.00	1	NM_153638.3
PGAP1	100.00	1	NM_024989.4
PLA2G6	100.00	1	NM_003560.4
PODXL	94.00	1	NM_001018111.3
POLG	100.00	1	NM_001126131.2
PPT1	100.00	1	NM_000310.4
RAB18	100.00	1	NM_021252.5
REPS1	100.00	1	NM_001286611.1
SLC6A3	100.00	1	NM_001044.5
SPG21	100.00	1	NM_016630.7
SQSTM1	100.00	1	NM_003900.5
SYNJ1	100.00	1	NM_003895.3
TBK1	100.00	1	NM_013254.4
UBTF	100.00	1	NM_014233.4
UCHL1	100.00	1	NM_004181.5
VPS13C	100.00	1	NM_020821.3
VPS35	100.00	1	NM_018206.6
WDR45	100.00	1	NM_001029896.2

Neuromuscular disorders (548 genes) - ULB

Details

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

Neuropathy (genepanel) - UZA

Details

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

Progressive Myoclonic Epilepsy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ASAH1	99.90	1
ATP13A2	99.96	1
BSCL2	99.99	1
CACNA1A	98.16	1
CERS1	100.00	1
CLN3	99.92	1
CLN5	100.00	1
CLN6	100.00	1
CLN8	100.00	1
CSTB	100.00	1
CTSD	100.00	1
CTSF	99.96	1
DNAJC5	99.99	1
EPM2A	99.99	1
FARS2	100.00	1
GBA1	96.92	1
GOSR2	98.92	1
GRN	100.00	1
KCNC1	100.00	1
KCTD7	99.98	1
KIF5A	99.91	1
LMNB2	99.99	1
MFSD8	99.70	1
MTFMT	99.98	1
NEU1	99.98	1
NHLRC1	100.00	1
PPT1	97.48	1
PRICKLE1	99.87	1
PRNP	100.00	1
SACS	99.97	1
SCARB2	99.99	1
SERPINI1	99.98	1
TBC1D24	100.00	1
ACD	99.99	1