Movement Disorders - UGent
Full name: |
Movement Disorders - UGent
|
Version number: |
v2
|
Laboratory: | |
Created: |
18 Jun 2019 - 11:53
|
Changed: |
16 Dec 2022 - 10:54
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
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 | |
GM2A | 100.00 | 1 | |
GNAL | 100.00 | 1 | |
GNAO1 | 99.86 | 1 | |
GNB1 | 100.00 | 1 | |
GPR88 | 100.00 | 1 | |
GRID2 | 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 |