Ataxia Spasticity - UGent

Gene panel Export to PDF
Full name:
Ataxia Spasticity - UGent
Version number:
v2
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
04 Jun 2019 - 13:40
Changed:
16 Dec 2022 - 13:57
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AAAS 99.88 1
AARS1 99.99 1
ABCA2 100.00 1
ABCB7 99.58 1
ABCD1 99.98 1
ABHD12 99.98 1
ACD 99.99 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
ERCC2 99.99 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
MAN2B1 99.99 1
MARS1 99.97 1
MARS2 100.00 1
MCOLN1 100.00 1
MECP2 99.95 1
MED12 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
OPA3 100.00 1
OPHN1 99.92 1
OTC 99.42 1
PARS2 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
PODXL 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
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