Movement Disorders - ULG
Full name: |
Movement Disorders - ULG
|
Laboratory: | |
Created: |
25 Jan 2023 - 16:53
|
Changed: |
12 Apr 2023 - 09:43
|
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 | |
MED12 | 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 | |
OPA3 | 100.00 | 0 | |
PAH | 100.00 | 0 | |
PANK2 | 95.70 | 0 | |
PARK7 | 100.00 | 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 | |
PODXL | 96.85 | 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 |