Ataxia (722 genes) - ULB

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Full name:
Ataxia (722 genes) - ULB
Laboratory:
Centre de Génétique Humaine - Erasme ULB
Responsible personnel member:
Dr. Laurence Desmyter, M.Sc, PhD
Created:
12 Jul 2019 - 12:08
Changed:
14 Dec 2022 - 12:31
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AAAS 100.00 0 No comment
ABCB7 99.99 0 No comment
ABCD1 97.56 0 No comment
ABHD12 88.30 0 No comment
ABHD5 99.85 0 No comment
ACADVL 98.04 0 No comment
ACD 99.99 0 No comment
ACO2 100.00 0 No comment
ADGRG1 99.99 0 No comment
AFG3L2 94.80 0 No comment
AHI1 100.00 0 No comment
ALAS2 100.00 0 No comment
ALDH18A1 100.00 0 No comment
ALDH5A1 84.13 0 No comment
ALG6 100.00 0 No comment
ALS2 100.00 0 No comment
AMACR 96.78 0 No comment
AMPD2 99.90 0 No comment
AMT 100.00 0 No comment
ANO10 100.00 0 No comment
AP1S2 100.00 0 No comment
APTX 99.96 0 No comment
ARL13B 99.98 0 No comment
ARL6 100.00 0 No comment
ARSA 100.00 0 No comment
ARX 100.00 0 No comment
ASPA 100.00 0 No comment
ATCAY 100.00 0 No comment
ATG5 100.00 0 No comment
ATL1 99.89 0 No comment
ATM 100.00 0 No comment
ATP1A3 100.00 0 No comment
ATP2B2 100.00 0 No comment
ATP2B3 99.89 0 No comment
ATP7B 100.00 0 No comment
ATP8A2 99.91 0 No comment
ATXN1 100.00 0 No comment
ATXN10 98.19 0 No comment
ATXN2 93.25 0 No comment
ATXN3 99.47 0 No comment
ATXN7 98.67 0 No comment
B9D1 99.89 0 No comment
BBS1 100.00 0 No comment
BBS10 100.00 0 No comment
BBS12 100.00 0 No comment
BBS2 100.00 0 No comment
BBS4 99.97 0 No comment
BBS5 100.00 0 No comment
BBS7 99.99 0 No comment
BBS9 99.93 0 No comment
BEAN1 100.00 0 No comment
BIVM 100.00 0 No comment
BSCL2 100.00 0 No comment
BTD 100.00 0 No comment
C19ORF12 100.00 0 No comment
CA8 100.00 0 No comment
CACNA1A 99.53 0 No comment
CACNA1G 99.97 0 No comment
CACNB4 99.95 0 No comment
CAMTA1 99.98 0 No comment
CAPN1 99.97 0 No comment
CASK 99.99 0 No comment
CC2D2A 100.00 0 No comment
CCDC88C 99.64 0 No comment
CEP290 100.00 0 No comment
CEP41 100.00 0 No comment
CHMP1A 100.00 0 No comment
CLCN2 100.00 0 No comment
CLN5 98.80 0 No comment
CLN6 90.40 0 No comment
CLPP 97.95 0 No comment
COA7 100.00 0 No comment
COASY 100.00 0 No comment
COG5 99.95 0 No comment
COQ2 99.66 0 No comment
COQ6 100.00 0 No comment
COQ8A 99.92 0 No comment
COQ9 100.00 0 No comment
COX20 95.39 0 No comment
CP 100.00 0 No comment
CPLANE1 100.00 0 No comment
CRAT 99.29 0 No comment
CSTB 98.75 0 No comment
CWF19L1 100.00 0 No comment
CYP27A1 99.38 0 No comment
CYP2U1 93.20 0 No comment
CYP7B1 95.41 0 No comment
DARS1 100.00 0 No comment
DARS2 100.00 0 No comment
DDB2 100.00 0 No comment
DDHD2 100.00 0 No comment
DLAT 100.00 0 No comment
DMXL2 100.00 0 No comment
DNAJC19 99.65 0 No comment
DNAJC3 99.99 0 No comment
DNAJC5 100.00 0 No comment
DNMT1 99.54 0 No comment
EBF3 99.94 0 No comment
EEF2 100.00 0 No comment
EIF2B1 100.00 0 No comment
EIF2B2 99.61 0 No comment
EIF2B3 98.87 0 No comment
EIF2B4 100.00 0 No comment
EIF2B5 100.00 0 No comment
ELOVL4 100.00 0 No comment
ELOVL5 100.00 0 No comment
EPM2A 97.21 0 No comment
ERCC2 99.22 0 No comment
ERCC3 100.00 0 No comment
ERCC4 99.99 0 No comment
ERCC5 100.00 0 No comment
ETFA 100.00 0 No comment
ETFB 100.00 0 No comment
ETFDH 100.00 0 No comment
EXOSC3 100.00 0 No comment
FA2H 95.71 0 No comment
FARS2 100.00 0 No comment
FBXL4 100.00 0 No comment
FDXR 100.00 0 No comment
FGF14 100.00 0 No comment
FLVCR1 100.00 0 No comment
FMR1 99.99 0 No comment
FOLR1 100.00 0 No comment
FRMD7 99.98 0 No comment
FXN 100.00 0 No comment
GALC 98.98 0 No comment
GBA 100.00 0 No comment
GBA2 100.00 0 No comment
GBE1 100.00 0 No comment
GCDH 100.00 0 No comment
GCLC 99.98 0 No comment
GCSH 73.97 0 No comment
GFAP 100.00 0 No comment
GJC2 96.72 0 No comment
GLB1 100.00 0 No comment
GLDC 97.39 0 No comment
GLRX5 100.00 0 No comment
GM2A 100.00 0 No comment
GOSR2 100.00 0 No comment
GPAA1 95.08 0 No comment
GPR143 89.09 0 No comment
GRID2 100.00 0 No comment
GRM1 99.99 0 No comment
GSS 100.00 0 No comment
HARS2 100.00 0 No comment
HEPACAM 99.85 0 No comment
HERC1 100.00 0 No comment
HEXA 100.00 0 No comment
HEXB 99.19 0 No comment
HIBCH 100.00 0 No comment
HPRT1 92.71 0 No comment
HTRA1 75.65 0 No comment
IFRD1 98.86 0 No comment
IGDCC3 95.07 0 No comment
INPP5E 99.14 0 No comment
IRF2BPL 97.56 0 No comment
ITM2B 100.00 0 No comment
ITPR1 99.99 0 No comment
KCNA1 100.00 0 No comment
KCNC3 76.20 0 No comment
KCND3 100.00 0 No comment
KCNJ10 100.00 0 No comment
KCNJ6 100.00 0 No comment
KCNMA1 99.93 0 No comment
KIF1A 98.74 0 No comment
KIF1C 100.00 0 No comment
KIF5A 100.00 0 No comment
KIF5C 100.00 0 No comment
KIF7 99.64 0 No comment
L2HGDH 99.75 0 No comment
LAMA1 99.79 0 No comment
LAMB1 100.00 0 No comment
LARS2 100.00 0 No comment
LMNB1 97.00 0 No comment
LRPPRC 98.80 0 No comment
LYST 100.00 0 No comment
MED12 99.98 0 No comment
MFSD8 100.00 0 No comment
MKKS 100.00 0 No comment
MKS1 100.00 0 No comment
MLC1 98.57 0 No comment
MMACHC 100.00 0 No comment
MME 100.00 0 No comment
MRE11 99.05 0 No comment
MSTO1 99.96 0 No comment
MTFMT 97.83 0 No comment
MTPAP 99.98 0 No comment
MTRFR 100.00 0 No comment
MTRR 100.00 0 No comment
MTTP 100.00 0 No comment
MVK 100.00 0 No comment
NANS 100.00 0 No comment
NDUFAF6 95.61 0 No comment
NDUFS1 100.00 0 No comment
NDUFS2 100.00 0 No comment
NDUFS4 99.96 0 No comment
NDUFS7 93.34 0 No comment
NDUFS8 100.00 0 No comment
NDUFV1 99.62 0 No comment
NEFL 99.62 0 No comment
NEU1 100.00 0 No comment
NEXMIF 100.00 0 No comment
NHLRC1 96.01 0 No comment
NKX6-2 94.10 0 No comment
NOL3 100.00 0 No comment
NOP56 99.99 0 No comment
NOTCH3 93.46 0 No comment
NPC1 97.50 0 No comment
NPC2 100.00 0 No comment
NPHP1 100.00 0 No comment
NUBPL 99.92 0 No comment
OCLN 100.00 0 No comment
OFD1 97.13 0 No comment
OPA3 100.00 0 No comment
OPHN1 99.94 0 No comment
OTUD4 100.00 0 No comment
PAX6 100.00 0 No comment
PDGFRB 99.98 0 No comment
PDHX 100.00 0 No comment
PDSS1 85.11 0 No comment
PDSS2 100.00 0 No comment
PDYN 100.00 0 No comment
PEX10 87.10 0 No comment
PEX16 99.97 0 No comment
PEX2 100.00 0 No comment
PEX7 95.60 0 No comment
PHYH 99.81 0 No comment
PIK3R5 100.00 0 No comment
PLA2G6 100.00 0 No comment
PLEKHG4 100.00 0 No comment
PLP1 100.00 0 No comment
PMM2 100.00 0 No comment
PMPCA 100.00 0 No comment
PNKD 99.93 0 No comment
PNKP 99.84 0 No comment
PNPLA6 99.95 0 No comment
POLG 100.00 0 No comment
POLH 100.00 0 No comment
POLR3A 100.00 0 No comment
POLR3B 100.00 0 No comment
PPP2R2B 100.00 0 No comment
PRICKLE1 100.00 0 No comment
PRKCG 100.00 0 No comment
PRNP 99.92 0 No comment
PRPS1 99.91 0 No comment
PRRT2 100.00 0 No comment
PTEN 99.45 0 No comment
PUM1 100.00 0 No comment
RAB18 99.99 0 No comment
RAB3A 100.00 0 No comment
RAB3GAP1 100.00 0 No comment
RARS2 100.00 0 No comment
RELN 100.00 0 No comment
RNASEH2A 100.00 0 No comment
RNASEH2C 100.00 0 No comment
RNF170 100.00 0 No comment
RNF216 100.00 0 No comment
RPGRIP1L 96.40 0 No comment
RRM2B 100.00 0 No comment
RUBCN 96.60 0 No comment
SACS 99.95 0 No comment
SAMD9L 100.00 0 No comment
SAMHD1 100.00 0 No comment
SAR1B 100.00 0 No comment
SCN8A 100.00 0 No comment
SEC16A 99.98 0 No comment
SEPSECS 99.57 0 No comment
SERAC1 100.00 0 No comment
SETX 100.00 0 No comment
SIL1 99.95 0 No comment
SKOR1 98.57 0 No comment
SLC16A2 99.97 0 No comment
SLC17A5 100.00 0 No comment
SLC19A3 99.90 0 No comment
SLC1A3 100.00 0 No comment
SLC20A2 100.00 0 No comment
SLC25A15 100.00 0 No comment
SLC25A46 100.00 0 No comment
SLC2A1 100.00 0 No comment
SLC39A8 98.92 0 No comment
SLC52A2 100.00 0 No comment
SLC52A3 99.86 0 No comment
SLC9A1 100.00 0 No comment
SLC9A6 99.66 0 No comment
SMPD1 100.00 0 No comment
SNX14 99.98 0 No comment
SPAST 99.83 0 No comment
SPG11 100.00 0 No comment
SPG7 95.78 0 No comment
SPR 99.98 0 No comment
SPTBN2 99.93 0 No comment
SRD5A3 98.61 0 No comment
STUB1 99.69 0 No comment
SYNE1 100.00 0 No comment
SYT14 92.28 0 No comment
TANGO2 99.94 0 No comment
TBC1D20 95.06 0 No comment
TBCC 100.00 0 No comment
TBP 100.00 0 No comment
TCTN1 100.00 0 No comment
TCTN2 100.00 0 No comment
TCTN3 100.00 0 No comment
TDP1 100.00 0 No comment
TDP2 100.00 0 No comment
TGM6 100.00 0 No comment
TK2 100.00 0 No comment
TMEM138 100.00 0 No comment
TMEM216 99.87 0 No comment
TMEM231 100.00 0 No comment
TMEM237 99.85 0 No comment
TMEM240 96.75 0 No comment
TMEM67 99.95 0 No comment
TRIM32 100.00 0 No comment
TRPC3 99.48 0 No comment
TSEN2 100.00 0 No comment
TSEN34 100.00 0 No comment
TSEN54 91.60 0 No comment
TSFM 100.00 0 No comment
TTBK2 100.00 0 No comment
TTC19 100.00 0 No comment
TTC8 99.73 0 No comment
TTPA 96.80 0 No comment
TUBB4A 100.00 0 No comment
TUBG1 100.00 0 No comment
TWNK 100.00 0 No comment
TYMP 100.00 0 No comment
UBA5 100.00 0 No comment
VAMP1 100.00 0 No comment
VLDLR 96.00 0 No comment
VPS13A 100.00 0 No comment
VPS13B 100.00 0 No comment
VPS13D 100.00 0 No comment
VRK1 100.00 0 No comment
VWA3B 100.00 0 No comment
WASHC5 100.00 0 No comment
WDPCP 99.11 0 No comment
WDR73 100.00 0 No comment
WDR81 99.63 0 No comment
WFS1 100.00 0 No comment
WWOX 100.00 0 No comment
XPA 98.10 0 No comment
XPC 100.00 0 No comment
XPR1 99.91 0 No comment
XRCC1 99.95 0 No comment
ZC4H2 100.00 0 No comment
ZFYVE26 100.00 0 No comment
ZNF423 100.00 0 No comment
ZNF592 100.00 0 No comment