SLC44A1 | Belgian Genetic Tests database

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Name:	solute carrier family 44 member 1
Symbol:	SLC44A1
XREF(s):	OMIM HGNC
Created:	15 Dec 2020 - 11:07
Changed:	15 Dec 2020 - 11:07

Related Genetic Tests

Related Gene Panels

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

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

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

Optic atrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACO2	99.99	1
AFG3L2	99.97	1
ATAD3A	99.62	1
AUH	99.95	1
C19ORF12	99.99	1
CISD2	96.27	1
DNAJC19	99.76	1
DNAJC30	100.00	1
DNM1L	99.40	1
FDXR	99.99	1
MCAT	99.99	1
MECR	99.63	1
MFF	99.97	1
MFN2	99.98	1
MTPAP	99.97	1
MTRFR	99.87	1
NBAS	99.86	1
NDUFS1	99.79	1
NDUFS2	99.66	1
NR2F1	99.99	1
MED12	99.95	1
OPA3	100.00	1
POLG	100.00	1
RTN4IP1	99.98	1
SLC25A46	99.88	1
SLC44A1	99.90	1
SLC52A2	100.00	1
SPG7	99.99	1
SSBP1	100.00	1
TIMM8A	100.00	1
TMEM126A	99.88	1
TSFM	100.00	1
WFS1	99.99	1
YME1L1	99.87	1
ZNHIT3	62.89	1