PHYH | Belgian Genetic Tests database

Analyte Export to PDF
Name:	phytanoyl-CoA 2-hydroxylase
Symbol:	PHYH
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	PAHX PHYH1 RD Refsum disease phytanoyl-CoA dioxygenase
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 (141 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
BEAN1	85.90	NM_001178020.2
KCNC3	88.90	NM_004977.2
SYT14	92.90	NM_001146261.2
PTF1A	94.90	NM_178161.2
ATXN10	95.40	NM_013236.3
ATXN2	96.20	NM_002973.3
FXN	96.40	NM_000144.4
ATXN3	97.20	NM_004993.5
TTC19	98.00	NM_017775.3
ATXN7	98.00	NM_000333.3
ABHD12	98.00	NM_001042472.2
FMR1	98.50	NM_002024.5
DAB1	98.80	NM_021080.4
CACNA2D2	98.90	NM_006030.3
APTX	99.00	NM_175073.2
TBP	99.30	NM_003194.4
CLN6	99.30	NM_017882.2
EIF2B2	99.50	NM_014239.3
CP	99.50	NM_000096.3
DNMT1	99.50	NM_001130823.2
MTPAP	99.50	NM_018109.3
PRRT2	99.60	NM_145239.2
DARS2	99.70	NM_018122.4
PNKP	99.80	NM_007254.3
CLCN2	99.80	NM_004366.5
PNPLA6	99.80	NM_006702.4
CACNA1A	99.80	NM_001127221.1
ATN1	99.80	NM_001007026.1
AFG3L2	99.80	NM_006796.2
AMPD2	99.80	NM_001257360.1
TRPC3	99.80	NM_001130698.1
GRM1	99.90	NM_001278064.1
TPP1	99.90	NM_000391.3
CACNA1G	99.90	NM_018896.4
ATP8A2	99.90	NM_016529.5
NPC1	99.90	NM_000271.4
PRKCG	99.90	NM_002739.4
SPG7	99.90	NM_003119.3
ATXN1	99.90	NM_000332.3
IFRD1	99.90	NM_001550.3
NKX6-2	99.90	NM_177400.2
TK2	99.90	NM_004614.4
TGM6	99.90	NM_198994.2
COX20	99.90	NM_198076.5
SLC9A1	100.00	NM_003047.4
TTPA	100.00	NM_000370.3
ATP2B3	100.00	NM_001001344.2
EIF2B4	100.00	NM_015636.3
PEX7	100.00	NM_000288.3
ANO10	100.00	NM_018075.4
SPTBN2	100.00	NM_006946.3
ITPR1	100.00	NM_002222.5
RUBCN	100.00	NM_001145642.4
PEX10	100.00	NM_153818.1
TMEM240	100.00	NM_001114748.1
WDR81	100.00	NM_001163809.1
CACNB4	100.00	NM_000726.4
ATM	100.00	NM_000051.3
VWA3B	100.00	NM_144992.4
AP1S2	100.00	NM_003916.4
SYNE1	100.00	NM_033071.3
SCYL1	100.00	NM_020680.3
STUB1	100.00	NM_005861.3
SLC1A3	100.00	NM_004172.4
LAMA1	100.00	NM_005559.3
NOP56	100.00	NM_006392.3
CYP27A1	100.00	NM_000784.3
KCNA1	100.00	NM_000217.2
SETX	100.00	NM_015046.6
CLN5	100.00	NM_006493.2
EIF2B3	100.00	NM_020365.4
PUM1	100.00	NM_001020658.1
MRE11	100.00	NM_005591.3
WWOX	100.00	NM_016373.3
GFAP	100.00	NM_002055.4
VLDLR	100.00	NM_003383.4
GBA2	100.00	NM_020944.2
KIF1C	100.00	NM_006612.5
CWF19L1	100.00	NM_018294.5
CCDC88C	100.00	NM_001080414.3
SACS	100.00	NM_014363.5
AAAS	100.00	NM_015665.5
ABCB7	100.00	NM_004299.5
ACO2	100.00	NM_001098.2
ARSA	100.00	NM_000487.5
ATCAY	100.00	NM_033064.4
ATG5	100.00	NM_004849.3
ATP1A3	100.00	NM_152296.5
CA8	100.00	NM_004056.5
CAPN1	100.00	NM_001198868.1
COQ8A	100.00	NM_020247.4
DNAJC19	100.00	NM_145261.3
DNAJC3	100.00	NM_006260.4
DNAJC5	100.00	NM_025219.2
EEF2	100.00	NM_001961.3
EIF2B1	100.00	NM_001414.3
EIF2B5	100.00	NM_003907.2
ELOVL4	100.00	NM_022726.3
ELOVL5	100.00	NM_021814.4
EXOSC3	100.00	NM_016042.3
FGF14	100.00	NM_004115.3
FLVCR1	100.00	NM_014053.3
FOLR1	100.00	NM_016725.2
GOSR2	100.00	NM_004287.4
GRID2	100.00	NM_001510.3
HEXA	100.00	NM_000520.5
HEXB	100.00	NM_000521.3
KCND3	100.00	NM_004980.4
KCNJ10	100.00	NM_002241.4
MARS2	100.00	NM_138395.3
MME	100.00	NM_007289.3
MTTP	100.00	NM_000253.3
NPC2	100.00	NM_006432.3
OPA1	100.00	NM_015560.2
PDYN	100.00	NM_024411.4
PHYH	100.00	NM_006214.3
PIK3R5	100.00	NM_001142633.2
PMM2	100.00	NM_000303.2
PMPCA	100.00	NM_015160.2
POLG	100.00	NM_002693.2
POLR3A	100.00	NM_007055.3
PPP2R2B	100.00	NM_181678.2
PRICKLE1	100.00	NM_153026.2
RNF170	100.00	NM_001160223.1
RNF216	100.00	NM_207111.3
SAMD9L	100.00	NM_152703.4
SEPSECS	100.00	NM_016955.3
SIL1	100.00	NM_022464.4
SLC52A2	100.00	NM_024531.4
SNX14	100.00	NM_153816.5
SRD5A3	100.00	NM_024592.4
TDP1	100.00	NM_018319.3
TDP2	100.00	NM_016614.2
TTBK2	100.00	NM_173500.3
TUBB4A	100.00	NM_006087.3
TWNK	100.00	NM_021830.4
VAMP1	100.00	NM_014231.4
WFS1	100.00	NM_006005.3
XRCC1	100.00	NM_006297.2
ZNF592	100.00	NM_014630.2
ATXN8OS	100.00	NG_016173.1

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

Cerebral palsy (212 genes) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACOX1
ADA2
ADCY5
ADD3
AFG3L2
AHI1
AIMP1
AKT3
ALDH3A2
ALDH5A1
AMT
AP4B1
AP4E1
AP4M1
AP4S1
ARG1
ARSA
ARX
ASPA
ATL1
ATM
ATP7B
AUTS2
BCKDHA
BCKDHB
BSCL2
BTD
MTRFR
CDKL5
CEP290
CLN3
COL4A1
COL4A2
COQ8A
CYP2U1
CYP7B1
DARS1
DBT
DDC
DDHD1
DDHD2
DLD
DYRK1A
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELP2
ERLIN2
F10
HYCC1
FH
FOXC1
FOXG1
GAD1
GALC
GALT
GAMT
GBA1
GCH1
GCSH
GFAP
GJC2
GLB1
GLDC
GLRA1
GM2A
GPHN
GRID2
GRIN1
GRIN2B
HESX1
HEXA
HIKESHI
HPRT1
HSPD1
IFIH1
ISG15
ITPR1
KANK1
KCNC3
KDM5C
KIF1A
KIF1C
KIF5A
L1CAM
L2HGDH
LAMA2
MARS2
MCPH1
MECP2
MOCS1
MOCS2
MTHFR
MTOR
MTPAP
MTTP
MMUT
NIPA1
NKX2-1
NKX6-2
NOTCH3
NPC1
NPC2
NPHP1
PAFAH1B1
PAK3
PANK2
PCCA
PCCB
PDHA1
PDHX
PHYH
PIK3CA
PLA2G6
PLAA
PLP1
PMM2
PNP
POLG
POLR1C
POLR3A
POLR3B
PPT1
PYCR2
QDPR
RARS1
REEP1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RTN2
SACS
SAMHD1
SCN8A
SEPSECS
SHH
SIX3
SLC16A2
SLC17A5
SLC19A3
SLC2A1
SLC5A6
SLC6A1
SLC6A5
SPAST
SPG11
SPG7
SPR
SPTBN2
SUOX
SURF1
TECPR2
TGIF1
TH
TPP1
TRAPPC12
TREX1
TSEN15
TSEN2
TSEN54
TTPA
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
UBE3A
USP18
VPS11
VPS37A
VPS53
ZFYVE26
ZIC2
ACTA2
ALS2
AMPD2
ATAD3A
CACNA1A
CTNNB1
DGUOK
EPHB4
FBXO31
FLVCR2
GNAO1
GNB1
JAM3
KCNQ2
KIDINS220
NT5C2
PCYT2
RASA1
SELENOI
ST3GAL5
STAT2
STING1
STXBP1
TAF2
YY1AP1
ZBTB18
ZC4H2

Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	100.00
AAGAB	97.88
ABCA12	100.00
ABCB6	100.00
ABCC6	99.97
ABHD5	100.00
ACD	100.00
ADAM10	100.00
ADAMTS2	95.82
ADAR	100.00
AIM1	100.00
AKT1	100.00
ALDH18A1	100.00
ALDH3A2	99.94
ALOX12B	100.00
ALOXE3	100.00
ANTXR1	100.00
AP1S1	100.00
AP3B1	100.00
APCDD1	99.97
AQP5	99.87
ARHGAP31	100.00
ARSL	99.95
ASAH1	100.00
ATM	100.00
ATP2A2	100.00
ATP2C1	100.00
ATP6V0A2	99.98
ATP6V1A	100.00
ATP6V1E1	99.99
ATP7A	100.00
AXIN2	100.00
B3GALT6	63.11
B4GALT7	90.91
BANF1	97.55
BCS1L	100.00
BLM	100.00
BLOC1S3	95.69
BLOC1S6	100.00
BRAF	96.86
LRMDA	100.00
KDF1	100.00
CARD14	99.96
CBL	100.00
CBS	99.92
CD151	99.99
CDH3	100.00
CDK4	100.00
CDKN1B	100.00
CDKN2A	99.69
CDSN	99.93
CERS3	100.00
CHST14	99.81
CHST8	100.00
CHUK	99.59
CLCF1	100.00
CLDN1	100.00
CLDN10	100.00
COG6	100.00
COL11A1	100.00
COL12A1	100.00
COL17A1	100.00
COL1A1	100.00
COL1A2	99.41
COL3A1	99.99
COL5A1	98.23
COL5A2	100.00
COL7A1	100.00
CREBBP	99.98
CRLF1	89.67
CSTA	100.00
CTC1	99.71
CTSC	100.00
CYLD	100.00
CYP26C1	97.30
CYP4F22	99.27
DDB2	100.00
DIP2B	99.71
DKC1	99.92
DLL4	100.00
DLX3	99.95
DNMT1	99.69
DOCK6	99.13
DOLK	100.00
DSC3	98.96
DSE	100.00
DSG1	100.00
DSG2	99.89
DSG4	100.00
DSP	100.00
DST	100.00
DTNBP1	99.96
GLB1	100.00
ECM1	100.00
EDA	99.05
EDAR	100.00
EDARADD	100.00
EDN3	99.95
EDNRB	100.00
EFEMP2	100.00
ELN	99.96
ELOVL4	100.00
ENPP1	97.25
EOGT	100.00
EP300	100.00
EPG5	99.99
ERCC2	99.35
ERCC3	100.00
ERCC4	99.99
ERCC5	100.00
ERCC6	100.00
ERCC8	100.00
EVC	94.53
EVC2	98.69
EXPH5	100.00
F12	99.81
FAM111B	100.00
RETREG1	93.87
FAM83G	100.00
FBLN5	100.00
FBN1	100.00
FBN2	100.00
FERMT1	99.96
FGFR2	100.00
FGFR3	99.36
FH	100.00
FKBP14	100.00
FLCN	100.00
FGFR1	100.00
FLG2	100.00
FOXN1	100.00
FZD6	100.00
GALNT3	100.00
GAN	98.95
GBA1	100.00
GGCX	99.91
GHR	99.21
GJA1	100.00
GJB2	100.00
GJB3	100.00
GJB4	100.00
GJB6	100.00
GLA	100.00
GNAS	100.00
GORAB	100.00
GPR143	89.17
GRHL2	100.00
GSN	97.95
GTF2E2	100.00
GTF2H5	100.00
HAMP	100.00
HCCS	100.00
HDAC8	99.82
HFE	100.00
HJV	100.00
HGD	100.00
HLCS	100.00
HOXC13	96.56
HPGD	99.87
HPS1	100.00
HPS3	99.99
HPS4	99.99
HPS5	100.00
HPS6	96.32
HR	99.78
HRAS	100.00
IFT122	99.99
IFT43	100.00
ELP1	100.00
IKBKG	96.27
IL31RA	100.00
INSR	96.81
ITGA3	99.99
ITGA6	100.00
ITGB4	98.77
JUP	100.00
KANK2	99.99
KCNH1	100.00
KCTD1	100.00
KDM6A	99.63
KDSR	99.98
KIF1A	99.07
KIT	99.98
KITLG	100.00
KL	96.52
KLHL24	100.00
KLLN	100.00
KMT2D	99.99
KRAS	100.00
KREMEN1	92.10
KRT1	99.80
KRT10	99.93
KRT14	100.00
KRT16	99.48
KRT17	92.10
KRT2	100.00
KRT5	100.00
KRT6A	100.00
KRT6B	100.00
KRT6C	99.44
KRT71	99.95
KRT74	99.99
KRT81	100.00
KRT83	99.99
KRT85	99.27
KRT86	99.98
KRT9	100.00
LAMA4	99.75
LAMB3	100.00
LAMC2	99.43
LEMD3	99.97
LIPH	100.00
LIPN	100.00
LMNA	99.52
LMX1B	99.55
LORICRIN	100.00
LPAR6	100.00
LRP1	100.00
LTBP4	99.49
LYST	100.00
LZTR1	99.92
MAP2K1	100.00
MAP2K2	99.99
MAPRE2	100.00
MBTPS2	100.00
MC1R	100.00
MEN1	99.83
MITF	100.00
MLH1	99.99
MLPH	100.00
MMP1	99.99
MMP2	99.93
MPDU1	100.00
MPLKIP	100.00
MSH2	100.00
MSH6	99.92
MSMO1	100.00
MSX1	99.53
MUTYH	100.00
MYO5A	99.78
NF1	98.85
NF2	99.97
NFKBIA	99.97
NGF	100.00
NHP2	100.00
NIPAL4	100.00
NIPBL	99.62
RMRP	100.00
NOP10	100.00
NOTCH1	98.81
NRAS	100.00
NSDHL	100.00
NTRK1	98.91
OCA2	99.73
OFD1	97.68
ORAI1	93.55
OSMR	100.00
PADI3	100.00
PARN	100.00
PAX3	100.00
PDGFRB	100.00
PEX7	96.12
PHYH	99.87
PIGL	100.00
PIK3CA	100.00
PKP1	100.00
PLCD1	99.74
PLEC	99.33
PLOD1	98.77
PLOD3	99.97
PMS2	98.83
PNPLA1	99.66
POFUT1	99.99
POGLUT1	100.00
POLD1	99.84
POLH	100.00
NT5C3A	100.00
PORCN	99.13
PPP1CB	100.00
PRDM12	83.27
PRDM5	100.00
PRKAR1A	100.00
PRKD1	97.12
PSAT1	99.73
PSENEN	100.00
PTCH1	99.03
PTCH2	100.00
PTDSS1	100.00
PTEN	99.64
PTPN11	94.81
NECTIN1	99.68
NECTIN4	99.41
PYCR1	100.00
RAB27A	100.00
RAD21	100.00
RAF1	100.00
RASA2	99.74
RBPJ	99.69
RECQL4	96.90
RET	96.88
RHBDF2	100.00
RIN2	100.00
RIPK4	99.98
RIT1	100.00
RNF113A	100.00
RPL21	84.30
RRAS	98.63
RSPO1	100.00
RTEL1	100.00
SASH1	99.88
SCN11A	99.99
SCN9A	99.99
SDHB	99.35
SDHD	99.95
SEC23B	100.00
SERPINB7	100.00
SERPINB8	100.00
SERPING1	97.68
SETBP1	100.00
SGPL1	100.00
SHOC2	100.00
HHAT	93.18
SKIC2	100.00
SLC24A5	100.00
SLC27A4	99.97
SLC29A3	95.73
SLC2A10	97.06
SLC39A13	100.00
SLC39A4	100.00
SLC45A2	100.00
SLC6A19	99.99
SLURP1	100.00
SMAD3	100.00
SMARCAD1	99.97
SMARCB1	100.00
SMC3	100.00
SMPD1	100.00
SNAI2	100.00
SNAP29	100.00
SNRPE	99.04
SOS1	100.00
SOS2	99.97
SOX10	97.31
SPINK5	100.00
SPRED1	100.00
SPRY1	100.00
SPTLC1	99.44
SRD5A3	98.97
ST14	99.95
STK11	99.81
STS	99.94
SUFU	100.00
SULT2B1	100.00
SUMF1	100.00
TAT	100.00
TCHH	100.00
TERT	93.51
TFR2	100.00
TGFB2	99.97
TGFB3	100.00
TGFBR1	91.97
TGFBR2	100.00
TGM1	100.00
TGM3	100.00
TGM5	100.00
TINF2	99.96
TMC6	99.87
TNXB	100.00
TP63	100.00
TRPS1	100.00
TRPV3	99.99
TSC1	100.00
TSC2	99.99
SKIC3	99.99
TUBB	100.00
TWIST2	99.15
TYR	100.00
TYRP1	100.00
UBR1	100.00
USB1	100.00
UVSSA	100.00
VPS33B	100.00
WDR19	100.00
WDR35	100.00
WNK1	100.00
WNT10A	94.15
WRAP53	100.00
WRN	100.00
XPA	97.89
XPC	100.00
ZMPSTE24	100.00
ZNF469	99.97
ZNF750	100.00
TERC	100.00	t

Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AMPD2	99.99	1
AP4B1	99.97	1
ATP13A2	99.98	1
CAMTA1	99.97	1
COA7	100.00	1
COQ8A	100.00	1
COX20	99.40	1
DARS2	99.86	1
EIF2B3	99.95	1
FLVCR1	99.93	1
GDAP2	99.96	1
GJC2	96.12	1
HPDL	100.00	1
IBA57	96.45	1
KCNA2	100.00	1
KCND3	100.00	1
MMACHC	99.99	1
MSTO1	98.87	1
PUM1	99.95	1
RNF220	99.95	1
SLC9A1	99.86	1
TMEM240	99.83	1
TOE1	99.99	1
VPS13D	99.85	1
ALDH18A1	99.96	1
CWF19L1	99.89	1
ENTPD1	99.90	1
ERLIN1	99.96	1
NKX6-2	96.38	1
NT5C2	99.89	1
PHYH	99.65	1
POLR3A	99.95	1
ATM	99.83	1
BSCL2	100.00	1
CAPN1	100.00	1
CLP1	100.00	1
FAR1	99.83	1
HIKESHI	99.89	1
MRE11	99.90	1
SCYL1	99.64	1
SPTBN2	99.99	1
TPP1	99.88	1
AAAS	99.98	1
B4GALNT1	99.95	1
EIF2B1	99.96	1
KCNA1	99.96	1
KIF5A	99.93	1
MTRFR	99.85	1
PRICKLE1	99.97	1
SCN8A	99.90	1
VAMP1	99.70	1
ATP7B	99.99	1
ATP8A2	99.96	1
EXOSC8	99.69	1
FGF14	99.79	1
KPNA3	99.96	1
SACS	99.98	1
SPART	99.99	1
AP4S1	87.70	1
ATL1	99.95	1
DDHD1	99.98	1
EIF2B2	99.84	1
GALC	99.88	1
GCH1	99.74	1
GLRX5	98.29	1
IRF2BPL	98.65	1
NPC2	99.99	1
TMEM63C	99.99	1
VRK1	99.94	1
ZFYVE26	99.96	1
AP4E1	99.89	1
CLN6	98.04	1
HEXA	99.98	1
NIPA1	96.26	1
POLG	99.98	1
SPG11	99.94	1
SPG21	99.99	1
TTBK2	99.88	1
WDR73	99.99	1
ARL6IP1	99.84	1
CHMP1A	100.00	1
FA2H	99.93	1
SPG7	99.99	1
STUB1	99.73	1
CACNA1G	99.89	1
COASY	99.98	1
GFAP	99.94	1
GOSR2	99.75	1
KIF1C	99.99	1
NPTX1	99.35	1
PCYT2	97.60	1
TSEN54	98.24	1
VPS53	99.98	1
WDR45B	99.96	1
WDR81	100.00	1
AFG3L2	99.82	1
NPC1	99.84	1
ATCAY	99.99	1
ATP1A3	99.99	1
C19ORF12	99.36	1
CACNA1A	99.66	1
CPT1C	99.99	1
DNMT1	99.88	1
EEF2	99.99	1
KCNC3	94.29	1
MAG	99.81	1
OPA3	100.00	1
PNKP	100.00	1
PNPLA6	99.88	1
PRKCG	99.90	1
RTN2	99.99	1
TUBB4A	98.81	1
ALS2	99.91	1
ATP5MC3	100.00	1
CYP27A1	99.96	1
DARS1	99.87	1
EIF2B4	99.94	1
HSPD1	99.95	1
KIDINS220	99.97	1
KIF1A	99.96	1
MARS2	100.00	1
PGAP1	99.64	1
REEP1	99.99	1
SELENOI	99.88	1
SLC1A4	99.95	1
SPAST	99.83	1
ABHD12	99.11	1
DNAJC5	99.99	1
PDYN	99.98	1
TGM6	100.00	1
ARSA	100.00	1
PLA2G6	99.98	1
ANO10	99.92	1
ATG7	99.98	1
BTD	99.99	1
CACNA2D2	99.32	1
CLCN2	99.97	1
CTNNB1	99.98	1
EIF2B5	99.95	1
ITPR1	99.94	1
OPA1	99.87	1
RUBCN	99.94	1
SLC33A1	99.82	1
TFG	99.34	1
TSEN2	86.92	1
AIMP1	99.90	1
CYP2U1	97.44	1
EXOSC9	99.86	1
GRID2	99.98	1
MTTP	99.96	1
RFC1	99.44	1
SEPSECS	99.84	1
UCHL1	99.99	1
CCT5	99.97	1
FAT2	99.94	1
HEXB	99.91	1
PCDH12	100.00	1
REEP2	100.00	1
SIL1	99.99	1
SLC1A3	99.90	1
SLC25A46	99.93	1
SQSTM1	100.00	1
THG1L	99.95	1
ABHD16A	100.00	1
ARG1	99.98	1
ELOVL4	99.92	1
ELOVL5	99.95	1
FARS2	99.98	1
GRM1	99.87	1
HACE1	99.91	1
PEX7	99.87	1
RARS2	97.34	1
SNX14	99.73	1
SYNE1	99.96	1
TDP2	99.85	1
AP4M1	100.00	1
AP5Z1	99.94	1
COG5	99.92	1
IFRD1	99.96	1
PMPCB	99.98	1
RNF216	99.99	1
SAMD9L	99.98	1
VPS41	99.95	1
CA8	99.97	1
CYP7B1	99.87	1
DDHD2	99.74	1
ERLIN2	99.94	1
GPAA1	99.88	1
RNF170	99.94	1
TTPA	99.97	1
WASHC5	99.90	1
APTX	99.92	1
AUH	99.95	1
EXOSC3	99.98	1
GBA2	99.97	1
INPP5E	99.75	1
PMPCA	99.99	1
SETX	99.96	1
SPTAN1	99.97	1
UBAP1	99.96	1
VLDLR	99.93	1
ABCB7	98.62	1
ABCD1	99.78	1
AIFM1	99.43	1
AP1S2	97.43	1
ATP2B3	99.82	1
CASK	99.40	1
L1CAM	99.90	1
PLP1	99.93	1

Ichthyosis and erythroderma (98 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCA12	95.00	NM_173076.3
ABHD5	95.00	NM_016006.6
ADAM17	95.00	NM_003183.6
ALDH3A2	95.00	NM_000382.3
ALOX12B	95.00	NM_001139.3
ALOXE3	95.00	NM_021628.3
AP1B1	95.00	NM_001127.4
AP1S1	95.00	NM_001283.5
ASPRV1	95.00	NM_152792.4
ASS1	95.00	NM_000050.4
ATP7A	95.00	NM_000052.7
BCKDHA	95.00	NM_000709.4
BCKDHB	95.00	NM_183050.4
BTD	95.00	NM_001370658.1
BTK	95.00	NM_000061.3
CAPN12	95.00	NM_144691.4
CARD14	95.00	NM_024110.4
CASP14	95.00	NM_012114.3
CAST	95.00	NM_001042440.5
CDSN	95.00	NM_001264.5
CERS3	95.00	NM_178842.5
CHST8	95.00	NM_001127896.2
CLDN1	95.00	NM_021101.5
CPS1	95.00	NM_001875.5
CSTA	95.00	NM_005213.4
CTSB	95.00	NM_001908.5
CYP4F22	95.00	NM_173483.4
DBT	95.00	NM_001918.5
DCLRE1C	95.00	NM_001033855.3
DLD	95.00	NM_000108.5
DSG1	95.00	NM_001942.4
EBP	95.00	NM_006579.3
ELOVL1	95.00	NM_001256399.2
ELOVL4	95.00	NM_022726.4
ERCC2	95.00	NM_000400.4
ERCC3	95.00	NM_000122.2
FLG	95.00	NM_002016.2
FLG2	95.00	NM_001014342.3
GBA1	95.00	NM_001005741.3
GJA1	95.00	NM_000165.5
GJB2	95.00	NM_004004.6
GJB3	95.00	NM_024009.3
GJB4	95.00	NM_153212.3
GJB6	95.00	NM_006783.5
GTF2E2	95.00	NM_002095.6
GTF2H5	95.00	NM_207118.3
HLCS	95.00	NM_000411.8
IL36RN	95.00	NM_012275.3
KDSR	95.00	NM_002035.4
KIT	95.00	NM_000222.3
KRT1	95.00	NM_006121.4
KRT10	95.00	NM_000421.5
KRT14	95.00	NM_000526.5
KRT16	95.00	NM_005557.4
KRT2	95.00	NM_000423.3
KRT5	95.00	NM_000424.4
KRT6C	95.00	NM_173086.5
KRT83	95.00	NM_002282.3
KRT9	95.00	NM_000226.4
LIPN	95.00	NM_001102469.2
LORICRIN	95.00	NM_000427.3
MBTPS2	95.00	NM_015884.4
MPLKIP	95.00	NM_138701.4
MMUT	95.00	NM_000255.4
NIPAL4	95.00	NM_001099287.2
NSDHL	95.00	NM_015922.3
PCCA	95.00	NM_000282.4
PCCB	95.00	NM_000532.5
PERP	95.00	NM_022121.5
PEX7	95.00	NM_000288.4
PHYH	95.00	NM_006214.4
PIGL	95.00	NM_004278.4
PNPLA1	95.00	NM_001145717.1
POMP	95.00	NM_015932.6
RAG1	95.00	NM_000448.3
RAG2	95.00	NM_000536.4
RNF113A	95.00	NM_006978.3
SDR9C7	95.00	NM_148897.3
SERPINB7	95.00	NM_003784.4
SERPINB8	95.00	NM_198833.2
SGPL1	95.00	NM_003901.4
SLC25A13	95.00	NM_014251.3
SLC27A4	95.00	NM_005094.4
SLC30A2	95.00	NM_001004434.3
SLC39A4	95.00	NM_130849.4
SNAP29	95.00	NM_004782.4
SPINK5	95.00	NM_006846.4
SREBF1	95.00	NM_004176.5
ST14	95.00	NM_021978.4
STS	95.00	NM_000351.7
SULT2B1	95.00	NM_177973.2
SUMF1	95.00	NM_182760.4
TBX1	95.00	NM_080647.1
TGM1	95.00	NM_000359.3
TGM5	95.00	NM_201631.4
TRPM4	95.00	NM_017636.4
VIPAS39	95.00	NM_022067.4
VPS33B	95.00	NM_018668.5

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 (148 genes) - IPG

Details

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

Neuropathy (genepanel) - UZA

Details

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

Neuropathy panel - UGent

Details

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

Retinal dystrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA4	99.30	1
ABCC6	98.57	1
ABHD12	99.98	1
ACBD5	99.97	1
ACO2	99.99	1
ADAM9	99.89	1
ADAMTS18	99.99	1
ADGRA3	99.90	1
ADGRV1	99.80	1
ADIPOR1	99.83	1
AFG3L2	99.97	1
AGBL5	99.98	1
AHI1	99.86	1
AHR	99.79	1
AIPL1	100.00	1
ALMS1	99.90	1
ARHGEF18	99.97	1
ARL2BP	99.89	1
ARL3	99.98	1
ARL6	99.90	1
ARMS2	100.00	1
ARSG	100.00	1
ASRGL1	99.84	1
ATF6	98.19	1
ATXN7	99.98	1
BBIP1	99.99	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
BEST1	99.86	1
MFRP	100.00	1
C2	99.99	1
C3	100.00	1
CA4	100.00	1
CABP4	100.00	1
CACNA1F	99.94	1
CACNA2D4	99.99	1
CAPN5	99.88	1
CC2D2A	99.95	1
CCT2	98.46	1
CDH23	99.95	1
CDH3	99.98	1
CDHR1	99.72	1
CEP164	99.99	1
CEP19	99.99	1
CEP250	99.93	1
CEP290	98.10	1
CEP78	99.95	1
CERKL	99.91	1
CFAP410	100.00	1
CFAP418	100.00	1
CFB	99.97	1
CFH	99.12	1
CHM	96.46	1
CIB2	100.00	1
CLCC1	93.17	1
CLN3	99.92	1
CLRN1	99.99	1
CLUAP1	99.95	1
CNGA1	99.60	1
CNGA3	99.95	1
CNGB1	97.53	1
CNGB3	99.96	1
CNNM4	99.93	1
COL11A1	90.72	1
COL2A1	99.87	1
COL9A1	99.91	1
CRB1	99.73	1
CRX	99.96	1
CSPP1	98.31	1
CTNNA1	99.98	1
CWC27	99.67	1
CYP4V2	99.98	1
DHDDS	98.65	1
DHX38	99.97	1
DMD	99.76	1
DRAM2	96.06	1
DTHD1	99.92	1
DYNC2H1	99.66	1
EFEMP1	99.68	1
ELOVL1	100.00	1
ELOVL4	99.91	1
EMC1	99.85	1
ERCC6	99.60	1
ESPN	100.00	1
EXOSC2	100.00	1
EYS	99.86	1
FAM161A	99.77	1
FBLN5	100.00	1
FBN2	99.90	1
FLVCR1	99.91	1
FSCN2	100.00	1
FZD4	100.00	1
GDF6	100.00	1
GNAT1	100.00	1
GNAT2	99.87	1
GNB3	100.00	1
GNPTG	100.00	1
GPR179	99.99	1
GRID2	99.97	1
GRK1	99.99	1
GRM6	100.00	1
GUCA1A	100.00	1
GUCA1B	99.99	1
GUCY2D	100.00	1
HARS1	99.96	1
HGSNAT	99.93	1
HK1	99.97	1
HMCN1	99.44	1
HMX1	100.00	1
HTRA1	100.00	1
IDH3A	99.98	1
IDH3B	100.00	1
IFT140	100.00	1
IFT172	99.98	1
IFT27	100.00	1
IFT43	99.97	1
IFT81	94.64	1
IFT88	98.26	1
IMPDH1	92.77	1
IMPG1	99.93	1
IMPG2	99.97	1
INPP5E	99.85	1
INVS	99.94	1
IQCB1	99.72	1
ITM2B	99.85	1
JAG1	100.00	1
KCNJ13	99.99	1
KCNV2	99.97	1
KIAA1549	99.98	1
KIF11	99.84	1
KIF3B	99.99	1
KIZ	99.98	1
KLHL7	99.95	1
LAMA1	99.98	1
LAMB2	99.99	1
LCA5	99.89	1
LRAT	100.00	1
LRIT3	100.00	1
LRP5	99.95	1
LZTFL1	100.00	1
MAK	99.47	1
MAPKAPK3	99.97	1
MERTK	98.90	1
MFN2	99.98	1
MFSD8	99.70	1
MIR204	100.00	1
MKKS	100.00	1
MKS1	99.92	1
MTRFR	99.87	1
MTTP	99.92	1
MVK	99.97	1
MYO7A	99.96	1
NBAS	99.86	1
NDP	99.98	1
NEK2	95.09	1
NEUROD1	100.00	1
NMNAT1	99.93	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NR2E3	100.00	1
NR2F1	99.99	1
NRL	100.00	1
NYX	100.00	1
OAT	90.17	1
OFD1	99.68	1
MED12	99.95	1
OPA3	100.00	1
OPN1LW	71.75	1
OPN1MW	30.23	1
OPN1SW	99.97	1
OTX2	100.00	1
PANK2	99.99	1
PAX2	99.99	1
PCARE	100.00	1
PCDH15	99.71	1
PCYT1A	100.00	1
PDE6A	99.98	1
PDE6B	100.00	1
PDE6C	99.91	1
PDE6G	100.00	1
PDE6H	99.97	1
PDZD7	98.09	1
PEX1	98.80	1
PEX2	100.00	1
PEX6	99.99	1
PEX7	99.72	1
PGK1	99.93	1
PHYH	100.00	1
PITPNM3	99.98	1
PLA2G5	99.91	1
PLK4	99.89	1
PNPLA6	99.99	1
POC1B	100.00	1
POC5	99.85	1
POMGNT1	99.69	1
PRCD	100.00	1
PRDM13	99.99	1
PROM1	99.97	1
PRPF3	99.73	1
PRPF31	99.99	1
PRPF4	99.96	1
PRPF6	99.98	1
PRPF8	99.98	1
PRPH2	99.98	1
PRPS1	99.95	1
RAB28	99.97	1
RAX2	100.00	1
RB1	99.84	1
RBP3	99.99	1
RBP4	99.99	1
RCBTB1	99.99	1
RD3	100.00	1
RDH11	99.99	1
RDH12	99.98	1
RDH5	100.00	1
REEP6	100.00	1
RGR	99.79	1
RGS9BP	100.00	1
RHO	100.00	1
RIMS1	99.85	1
RIMS2	99.97	1
RLBP1	99.99	1
ROM1	100.00	1
MAPRE2	99.98	1
RP1L1	100.00	1
RP2	99.58	1
RP9	99.83	1
RPE65	98.99	1
RPGR	94.45	1
RPGRIP1	99.95	1
RPGRIP1L	96.35	1
RS1	99.92	1
RTN4IP1	99.98	1
SAG	99.98	1
SAMD11	100.00	1
SAMD7	99.99	1
SCAPER	99.75	1
SCLT1	95.17	1
SDCCAG8	100.00	1
SEMA4A	99.81	1
SF3B2	99.98	1
SLC24A1	99.92	1
SLC25A46	99.88	1
SLC6A6	99.98	1
SLC7A14	99.99	1
SNRNP200	99.60	1
SPATA7	99.80	1
GPKOW	100.00	1
TEAD1	99.97	1
TIMM8A	100.00	1
TIMP3	100.00	1
TLR3	99.99	1
TLR4	99.99	1
TMEM126A	99.88	1
TMEM216	99.98	1
TMEM237	99.30	1
TOPORS	99.99	1
TREX1	100.00	1
TRIM32	100.00	1
TRNT1	99.97	1
TRPM1	99.96	1
TSPAN12	99.89	1
TTC8	99.67	1
TTLL5	99.95	1
TTPA	99.88	1
TUB	100.00	1
TUBGCP4	99.80	1
TUBGCP6	100.00	1
TULP1	99.99	1
UNC119	100.00	1
USH1C	99.99	1
USH1G	100.00	1
USH2A	99.88	1
VCAN	99.99	1
WDPCP	99.87	1
WDR19	99.80	1
WFS1	99.99	1
WHRN	99.96	1
ZNF408	99.99	1
ZNF423	98.94	1
ZNF513	99.97	1

Skin disorders - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AAAS	99.88	1
AAGAB	100.00	1
ABCA12	99.94	1
ABCB6	99.97	1
ABHD5	99.98	1
ADAM10	99.88	1
ADAR	99.84	1
ADGRE2	98.77	1
ALDH3A2	99.95	1
ALOX12B	100.00	1
ALOXE3	99.98	1
ALX4	100.00	1
ANTXR1	99.83	1
ANTXR2	99.67	1
AP1S1	99.49	1
AP3B1	99.89	1
AP3D1	100.00	1
APCDD1	99.99	1
AQP5	99.88	1
ARHGAP31	100.00	1
ARSL	99.93	1
ATP2A2	99.98	1
ATP6V1B2	99.99	1
ATP7A	99.87	1
AXIN2	100.00	1
BANF1	99.84	1
BCS1L	99.99	1
BLM	99.80	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BMS1	85.80	1
BRAF	99.78	1
C1QA	99.99	1
C1QB	99.58	1
C1QC	99.97	1
C5	99.92	1
CARD11	99.97	1
CARD14	99.99	1
CASP10	99.85	1
CASP14	99.86	1
CASP8	99.92	1
CAST	99.94	1
CBL	99.95	1
CD151	100.00	1
CDH1	99.98	1
CDH3	99.98	1
CDKN1B	100.00	1
CDKN1C	100.00	1
CDSN	99.94	1
CERS3	99.85	1
CHST8	100.00	1
CHUK	99.83	1
CLDN1	99.99	1
CLDN10	99.97	1
COG6	99.86	1
COL17A1	99.98	1
COL18A1	99.99	1
COL7A1	99.99	1
COX7B	99.86	1
CYP11B1	100.00	1
CSTB	99.99	1
CSTA	99.83	1
CTLA4	99.99	1
CTSC	99.97	1
CYLD	99.46	1
CYP11A1	99.99	1
CYP21A2	99.85	1
CYP26C1	99.92	1
CYP4F22	99.97	1
DCAF17	99.84	1
DCLRE1C	99.79	1
DCPS	99.98	1
DDB2	100.00	1
DHCR24	99.93	1
DIP2B	99.65	1
DKC1	99.59	1
DLL4	100.00	1
DOCK6	100.00	1
DOCK8	99.86	1
DPH1	100.00	1
DSC3	99.73	1
DSG1	99.35	1
DSG3	99.97	1
DSG4	99.91	1
DSP	100.00	1
DST	99.52	1
DSTYK	99.83	1
DTNBP1	99.89	1
GLB1	99.92	1
EDA	99.44	1
EDAR	99.89	1
EDARADD	99.98	1
EDN3	100.00	1
EDNRA	99.97	1
EDNRB	99.99	1
ELOVL4	99.91	1
ENPP1	99.88	1
EOGT	99.09	1
EPG5	99.95	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC4	99.92	1
ERCC5	99.99	1
ERCC6	99.60	1
ERCC8	99.79	1
EVC	99.95	1
EVC2	99.97	1
EXPH5	99.81	1
F12	99.99	1
FAM111B	99.98	1
FAS	99.99	1
FASLG	99.84	1
FECH	99.98	1
FERMT1	99.90	1
FGFR1	98.88	1
FGFR3	100.00	1
FOXN1	99.97	1
FZD6	99.95	1
GBA1	96.92	1
GINS1	99.99	1
GJA1	100.00	1
GJB2	100.00	1
GJB3	99.99	1
GJB4	100.00	1
GJB6	100.00	1
GPR143	99.60	1
GREM2	100.00	1
GRHL2	100.00	1
GRIN2B	99.99	1
GTF2E2	100.00	1
GTF2H5	100.00	1
HCCS	99.90	1
HOXC13	99.98	1
HPGD	99.98	1
HPS1	100.00	1
HPS3	99.91	1
HPS4	99.98	1
HPS5	99.91	1
HPS6	100.00	1
HR	99.95	1
HRAS	100.00	1
HSPA9	99.96	1
IFT122	99.98	1
IFT43	99.97	1
IKBKG	57.34	1
IL2RA	99.99	1
IL31RA	100.00	1
ITGA3	99.86	1
ITGA6	99.78	1
ITGB4	99.99	1
ITPR2	99.13	1
JUP	99.94	1
KCNH1	99.92	1
KCTD1	99.99	1
KDF1	99.86	1
KDSR	99.99	1
KEAP1	100.00	1
KIT	99.86	1
KITLG	99.46	1
KLHL24	99.90	1
KRAS	99.13	1
KREMEN1	99.88	1
KRT1	99.89	1
KRT10	100.00	1
KRT13	99.98	1
KRT14	99.99	1
KRT16	100.00	1
KRT17	100.00	1
KRT2	99.88	1
KRT3	99.89	1
KRT5	99.98	1
KRT6A	100.00	1
KRT6B	99.95	1
KRT6C	96.59	1
KRT7	99.87	1
KRT74	99.92	1
KRT83	100.00	1
KRT85	99.97	1
KRT9	100.00	1
LAMA4	99.90	1
LAMB3	99.99	1
LAMC2	99.54	1
LBR	99.66	1
LIPH	99.99	1
LIPN	99.94	1
LMNA	99.96	1
LMNB2	99.99	1
LORICRIN	100.00	1
LPAR6	99.99	1
LRMDA	99.87	1
LRP1	99.94	1
LYST	99.87	1
LZTR1	99.46	1
MBTPS2	99.81	1
MC1R	100.00	1
MC2R	100.00	1
MC4R	100.00	1
MCM4	99.96	1
MEN1	99.98	1
MITF	99.98	1
MLPH	100.00	1
MMP1	99.99	1
MPDU1	99.97	1
MPLKIP	99.99	1
MSX1	100.00	1
MYO5A	99.94	1
NECTIN1	99.99	1
NECTIN4	99.97	1
NF1	99.88	1
NFKBIA	99.99	1
NIPAL4	100.00	1
NLRC4	99.95	1
NLRP1	95.26	1
NLRP12	99.99	1
NLRP3	100.00	1
NNT	99.87	1
NOP10	99.99	1
NOTCH1	99.98	1
NR5A1	99.92	1
NRAS	99.66	1
NSDHL	99.87	1
OCA2	99.60	1
OSMR	99.95	1
PADI3	99.35	1
PAX3	100.00	1
PAX6	99.95	1
PDGFRB	99.99	1
PEPD	99.98	1
PEX7	99.72	1
PGM3	99.94	1
PHGDH	99.79	1
PHYH	100.00	1
PIEZO1	99.98	1
PIGL	99.98	1
PIGT	99.95	1
PKP1	99.98	1
PLCD1	99.98	1
PLCG2	99.99	1
PLEC	100.00	1
PMVK	99.60	1
PNPLA1	99.98	1
PNPLA2	100.00	1
PNPLA6	99.99	1
POFUT1	100.00	1
POGLUT1	99.99	1
POLA1	99.57	1
POLH	99.85	1
POMC	99.99	1
NT5C3A	99.95	1
PORCN	99.93	1
HCRT	99.85	1
PRKCD	99.96	1
PRKD1	99.96	1
PSAT1	99.98	1
PSENEN	100.00	1
PSMB8	99.96	1
PTCH1	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
PTPRF	99.92	1
RAB27A	99.94	1
RAD50	99.75	1
RAF1	99.97	1
RAG1	100.00	1
RAG2	100.00	1
RBM28	99.99	1
RBPJ	99.96	1
RECQL4	100.00	1
RET	99.97	1
RHBDF2	99.95	1
RIN2	99.99	1
RIT1	99.78	1
RMRP	100.00	1
RSPO1	99.99	1
SCN9A	99.83	1
SDR9C7	99.99	1
SERPINB7	99.93	1
SERPINB8	99.98	1
SERPING1	100.00	1
SGPL1	99.95	1
SHOC2	99.96	1
SLC24A5	99.99	1
SLC27A4	100.00	1
SLC29A3	99.98	1
SLC39A4	100.00	1
SLC45A2	100.00	1
SLURP1	100.00	1
SMARCA2	99.95	1
SMARCAD1	99.86	1
SNAI2	100.00	1
SNAP29	99.85	1
SNRPE	99.26	1
SOS1	99.68	1
SOS2	99.39	1
SOX10	100.00	1
SOX18	100.00	1
SPINK5	99.91	1
SPINT1	100.00	1
SPRED1	99.99	1
SRD5A3	99.94	1
ST14	100.00	1
ST3GAL5	99.96	1
STAT3	99.97	1
STIM1	99.99	1
STK11	100.00	1
STS	99.81	1
SULT2B1	99.92	1
SUMF1	99.95	1
TAT	99.99	1
TCHH	99.94	1
TERC	98.59	1
TGM1	99.82	1
TGM3	100.00	1
TGM5	100.00	1
TINF2	100.00	1
TP63	99.97	1
TRPM1	99.96	1
TRPS1	100.00	1
TRPV3	99.90	1
TWIST2	100.00	1
TXNRD2	99.97	1
TYRP1	99.97	1
UBR1	99.93	1
UROD	99.32	1
UROS	100.00	1
USB1	89.62	1
VCX	96.04	1
VCX3A	85.19	1
WDR19	99.80	1
WDR35	99.92	1
WNT10A	100.00	1
XPA	99.68	1
XPC	99.98	1
ZMPSTE24	98.70	1