HTRA1 | Belgian Genetic Tests database

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Name:	HtrA serine peptidase 1
Symbol:	HTRA1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	ARMD7 HtrA IGFBP5-protease
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt Reactome
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Related Gene Panels

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

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

Leukodystrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS2	99.98	1
ABAT	99.98	1
ABCD1	99.98	1
ACBD5	99.97	1
ACER3	99.76	1
ACOX1	99.98	1
ACP5	100.00	1
ACTL6B	99.90	1
ADAR	99.84	1
ADGRG1	99.90	1
ADSL	99.93	1
AGA	99.92	1
AIFM1	99.92	1
AIMP1	99.97	1
AIMP2	99.99	1
ALDH3A2	99.95	1
ALDH5A1	96.19	1
APP	99.92	1
ARSA	99.99	1
ASAH1	99.90	1
ASPA	99.98	1
ATAD3A	99.62	1
ATP7A	99.87	1
ATP7B	100.00	1
AUH	99.95	1
B3GALNT2	92.79	1
BCAP31	99.95	1
BCS1L	99.99	1
BOLA3	99.22	1
BTD	100.00	1
CBS	17.79	1
CIC	98.32	1
CLCN2	100.00	1
CLN3	99.92	1
CLN5	100.00	1
CLN6	100.00	1
CLN8	100.00	1
CNP	99.98	1
CNTNAP1	99.98	1
COA8	99.94	1
COL4A1	99.99	1
COL4A2	99.98	1
COX10	99.99	1
COX15	100.00	1
CYP21A2	99.91	1
CSF1R	99.92	1
CTC1	100.00	1
CTSA	99.98	1
CTSD	100.00	1
CTSF	99.96	1
CYP27A1	100.00	1
DAG1	100.00	1
DARS1	98.85	1
DARS2	98.31	1
DCAF17	99.84	1
DDHD2	99.97	1
DEGS1	99.99	1
DGUOK	99.93	1
DLAT	99.65	1
DLD	99.89	1
DMXL2	99.86	1
DNAJC5	99.99	1
EARS2	99.96	1
ECHS1	100.00	1
EIF2AK1	99.90	1
EIF2AK2	99.70	1
EIF2B1	99.98	1
EIF2B2	99.90	1
EIF2B3	97.26	1
EIF2B4	99.96	1
EIF2B5	99.98	1
EPRS1	99.53	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC6	99.60	1
ERCC8	99.79	1
FA2H	99.98	1
HYCC1	99.81	1
FAR1	99.82	1
FARS2	100.00	1
FASTKD2	99.93	1
FBXL4	100.00	1
FDX2	99.99	1
CFH	99.97	1
FIG4	99.83	1
FKTN	99.94	1
FLVCR2	100.00	1
FOLR1	100.00	1
FUCA1	98.72	1
GALC	99.92	1
GALT	100.00	1
GAN	99.98	1
GBE1	99.73	1
GFAP	99.99	1
GFM1	99.95	1
GFM2	99.87	1
GJA1	100.00	1
GJB1	100.00	1
GJC2	100.00	1
GLA	99.90	1
GLB1	100.00	1
GM2A	100.00	1
GNAS	100.00	1
GPHN	99.94	1
GRN	100.00	1
GTF2H5	100.00	1
HEPACAM	100.00	1
HEXA	99.99	1
HEXB	99.91	1
HIKESHI	99.78	1
HLCS	99.97	1
HMGCL	99.31	1
HSD17B4	99.71	1
HSPD1	83.42	1
HTRA1	100.00	1
IBA57	100.00	1
IFIH1	99.84	1
IKBKG	57.34	1
ISCA2	100.00	1
IVD	100.00	1
JAM3	100.00	1
KARS1	99.98	1
L2HGDH	99.92	1
LAMA2	99.95	1
LARGE1	100.00	1
LARS2	99.96	1
LIPT1	99.89	1
LIPT2	99.99	1
LMNB1	99.73	1
LYRM7	99.98	1
MAN2B1	99.99	1
MANBA	99.81	1
MARS2	100.00	1
MCOLN1	100.00	1
MFSD8	99.70	1
MLC1	99.99	1
MMUT	99.68	1
MOCS1	99.95	1
MOCS2	99.96	1
MPLKIP	99.99	1
MPV17	99.98	1
MRPS34	100.00	1
MTFMT	99.98	1
MTHFR	99.97	1
MTO1	90.25	1
NAXD	99.99	1
NAXE	99.99	1
NDUFA2	99.95	1
NDUFA9	100.00	1
NDUFAF1	100.00	1
NDUFAF3	100.00	1
NDUFAF4	99.95	1
NDUFAF6	99.86	1
NDUFS1	99.79	1
NDUFS2	99.66	1
NDUFS4	99.99	1
NDUFS7	99.99	1
NDUFS8	100.00	1
NDUFV1	99.99	1
NEU1	99.98	1
NKX6-2	100.00	1
NOTCH3	99.99	1
NPC1	99.99	1
NPC2	100.00	1
NTNG2	99.98	1
NUBPL	99.62	1
OCLN	82.91	1
OCRL	99.89	1
PAH	99.96	1
PARS2	99.99	1
PCCA	99.90	1
PCCB	99.97	1
PDGFB	99.99	1
PDGFRB	99.99	1
PDHA1	99.04	1
PDHB	99.94	1
PDHX	99.64	1
PDP1	100.00	1
PEX1	98.80	1
PEX10	100.00	1
PEX11B	99.62	1
PEX12	100.00	1
PEX13	99.36	1
PEX14	100.00	1
PEX16	99.94	1
PEX19	99.25	1
PEX2	100.00	1
PEX26	100.00	1
PEX3	99.85	1
PEX5	99.89	1
PEX6	99.99	1
PEX7	99.72	1
PLEKHG2	99.99	1
PLP1	99.98	1
PLPBP	99.99	1
PMPCB	99.94	1
PNPT1	99.56	1
POLG	100.00	1
POLR1C	100.00	1
POLR3A	99.97	1
POLR3B	99.94	1
POLR3K	100.00	1
POMGNT1	99.69	1
POMT1	99.96	1
POMT2	99.98	1
PPT1	97.48	1
PRF1	100.00	1
PSAP	99.94	1
PSAT1	99.98	1
PSPH	99.09	1
PYCR2	99.95	1
QDPR	99.92	1
RARS1	99.76	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNASET2	99.99	1
SAMHD1	99.98	1
SCP2	94.94	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHAF2	99.96	1
SDHB	97.32	1
SDHD	82.93	1
SEPSECS	99.78	1
SGO1	99.90	1
SHANK3	98.45	1
SLC13A3	99.98	1
SLC16A2	99.97	1
SLC17A5	99.71	1
SLC20A2	99.95	1
SLC25A12	99.72	1
SLC44A1	99.90	1
SLC7A2	99.97	1
SNAP29	99.85	1
SNORD118	100.00	1
SOX10	100.00	1
SPG11	99.89	1
STN1	99.88	1
STX11	100.00	1
STXBP2	100.00	1
SUCLA2	99.96	1
SUMF1	99.95	1
SUOX	100.00	1
SURF1	100.00	1
TACO1	100.00	1
TMEM106B	99.92	1
TMEM63A	99.91	1
ACD	99.99	1
TREM2	100.00	1
TREX1	100.00	1
TSEN54	100.00	1
TTR	100.00	1
TUBB4A	100.00	1
TWNK	100.00	1
TYMP	99.87	1
TYROBP	99.95	1
UBTF	99.99	1
UFM1	99.25	1
UNC13D	100.00	1
VPS11	99.99	1
WARS2	97.72	1
WT1	99.99	1
XPR1	99.13	1
ZFYVE26	100.00	1

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

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

Stroke - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA1	99.92	1
ABCC6	98.57	1
ACAD9	100.00	1
ACP5	100.00	1
ACTA2	99.99	1
ACVRL1	99.88	1
ADA2	100.00	1
APP	99.92	1
ASS1	77.52	1
ATP7A	99.87	1
C1R	99.99	1
CACNA1A	98.16	1
CBS	17.79	1
CCM2	99.93	1
CD59	100.00	1
COG6	99.86	1
COL1A1	99.90	1
COL3A1	99.87	1
COL4A1	99.99	1
COL4A2	99.98	1
COL5A1	99.99	1
COL5A2	99.86	1
COQ8A	100.00	1
CYP21A2	99.91	1
CST3	100.00	1
CTSA	99.98	1
DYRK1B	99.99	1
EFEMP2	99.94	1
ENG	100.00	1
ENPP1	99.88	1
ESCO2	99.92	1
F10	99.98	1
F13A1	99.43	1
F2	99.99	1
F5	99.59	1
F7	100.00	1
F8A1	21.76	1
FBN1	99.85	1
FGA	99.98	1
FGB	99.93	1
FGG	99.98	1
FOXC1	100.00	1
GAA	100.00	1
GATA3	99.96	1
GCDH	100.00	1
GGCX	99.88	1
GLA	99.90	1
GUCY1A1	99.99	1
HBB	100.00	1
HSD11B2	99.99	1
HTRA1	100.00	1
ITM2B	99.85	1
IVD	100.00	1
JAG1	100.00	1
JAK2	99.52	1
JAM3	100.00	1
KNG1	99.99	1
KRIT1	99.33	1
LMNA	99.96	1
MFAP5	99.96	1
MFN2	99.98	1
MMACHC	99.98	1
MMUT	99.68	1
MTHFR	99.97	1
MYH11	99.16	1
NF1	99.88	1
NOTCH3	99.99	1
OTC	99.42	1
PCCA	99.90	1
PCCB	99.97	1
PCNT	99.97	1
PDCD10	99.94	1
PDE3A	99.97	1
PKD1	99.98	1
PLG	99.89	1
PLOD1	99.93	1
PLOD3	99.89	1
PROC	99.98	1
PROS1	99.84	1
PTPN11	99.98	1
RASA1	99.05	1
SAMHD1	99.98	1
SERPINE1	99.90	1
SLC19A2	98.86	1
SLC2A10	100.00	1
SMAD3	99.99	1
SMAD4	99.97	1
SMARCAL1	99.97	1
SPARC	99.94	1
STAT1	99.83	1
STIM1	99.99	1
TGFB2	99.87	1
TGFB3	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
THBD	100.00	1
TREX1	100.00	1
TSC1	99.99	1
TSC2	99.98	1
TTR	100.00	1
VHL	100.00	1
YY1AP1	99.98	1