Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Full name: |
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
|
Version number: |
WESAT_v3
|
Laboratory: | |
Created: |
11 Dec 2020 - 08:55
|
Changed: |
27 Nov 2023 - 11:55
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
AAAS | 99.98 | 1 | |
ABCB7 | 98.62 | 1 | |
ABCD1 | 99.78 | 1 | |
ABHD12 | 99.11 | 1 | |
ABHD16A | 100.00 | 1 | |
AFG3L2 | 99.82 | 1 | |
AIFM1 | 99.43 | 1 | |
AIMP1 | 99.90 | 1 | |
ALDH18A1 | 99.96 | 1 | |
ALS2 | 99.91 | 1 | |
AMPD2 | 99.99 | 1 | |
ANO10 | 99.92 | 1 | |
AP1S2 | 97.43 | 1 | |
AP4B1 | 99.97 | 1 | |
AP4E1 | 99.89 | 1 | |
AP4M1 | 100.00 | 1 | |
AP4S1 | 87.70 | 1 | |
AP5Z1 | 99.94 | 1 | |
APTX | 99.92 | 1 | |
ARG1 | 99.98 | 1 | |
ARL6IP1 | 99.84 | 1 | |
ARSA | 100.00 | 1 | |
ATCAY | 99.99 | 1 | |
ATG7 | 99.98 | 1 | |
ATL1 | 99.95 | 1 | |
ATM | 99.83 | 1 | |
ATP13A2 | 99.98 | 1 | |
ATP1A3 | 99.99 | 1 | |
ATP2B3 | 99.82 | 1 | |
ATP5MC3 | 100.00 | 1 | |
ATP7B | 99.99 | 1 | |
ATP8A2 | 99.96 | 1 | |
AUH | 99.95 | 1 | |
B4GALNT1 | 99.95 | 1 | |
BSCL2 | 100.00 | 1 | |
BTD | 99.99 | 1 | |
C19ORF12 | 99.36 | 1 | |
CA8 | 99.97 | 1 | |
CACNA1A | 99.66 | 1 | |
CACNA1G | 99.89 | 1 | |
CACNA2D2 | 99.32 | 1 | |
CAMTA1 | 99.97 | 1 | |
CAPN1 | 100.00 | 1 | |
CASK | 99.40 | 1 | |
CCT5 | 99.97 | 1 | |
CHMP1A | 100.00 | 1 | |
CLCN2 | 99.97 | 1 | |
CLN6 | 98.04 | 1 | |
CLP1 | 100.00 | 1 | |
COA7 | 100.00 | 1 | |
COASY | 99.98 | 1 | |
COG5 | 99.92 | 1 | |
COQ8A | 100.00 | 1 | |
COX20 | 99.40 | 1 | |
CPT1C | 99.99 | 1 | |
CTNNB1 | 99.98 | 1 | |
CWF19L1 | 99.89 | 1 | |
CYP27A1 | 99.96 | 1 | |
CYP2U1 | 97.44 | 1 | |
CYP7B1 | 99.87 | 1 | |
DARS1 | 99.87 | 1 | |
DARS2 | 99.86 | 1 | |
DDHD1 | 99.98 | 1 | |
DDHD2 | 99.74 | 1 | |
DNAJC5 | 99.99 | 1 | |
DNMT1 | 99.88 | 1 | |
EEF2 | 99.99 | 1 | |
EIF2B1 | 99.96 | 1 | |
EIF2B2 | 99.84 | 1 | |
EIF2B3 | 99.95 | 1 | |
EIF2B4 | 99.94 | 1 | |
EIF2B5 | 99.95 | 1 | |
ELOVL4 | 99.92 | 1 | |
ELOVL5 | 99.95 | 1 | |
ENTPD1 | 99.90 | 1 | |
ERLIN1 | 99.96 | 1 | |
ERLIN2 | 99.94 | 1 | |
EXOSC3 | 99.98 | 1 | |
EXOSC8 | 99.69 | 1 | |
EXOSC9 | 99.86 | 1 | |
FA2H | 99.93 | 1 | |
FAR1 | 99.83 | 1 | |
FARS2 | 99.98 | 1 | |
FAT2 | 99.94 | 1 | |
FGF14 | 99.79 | 1 | |
FLVCR1 | 99.93 | 1 | |
GALC | 99.88 | 1 | |
GBA2 | 99.97 | 1 | |
GCH1 | 99.74 | 1 | |
GDAP2 | 99.96 | 1 | |
GFAP | 99.94 | 1 | |
GJC2 | 96.12 | 1 | |
GLRX5 | 98.29 | 1 | |
GOSR2 | 99.75 | 1 | |
GPAA1 | 99.88 | 1 | |
GRID2 | 99.98 | 1 | |
GRM1 | 99.87 | 1 | |
HACE1 | 99.91 | 1 | |
HEXA | 99.98 | 1 | |
HEXB | 99.91 | 1 | |
HIKESHI | 99.89 | 1 | |
HPDL | 100.00 | 1 | |
HSPD1 | 99.95 | 1 | |
IBA57 | 96.45 | 1 | |
IFRD1 | 99.96 | 1 | |
INPP5E | 99.75 | 1 | |
IRF2BPL | 98.65 | 1 | |
ITPR1 | 99.94 | 1 | |
KCNA1 | 99.96 | 1 | |
KCNA2 | 100.00 | 1 | |
KCNC3 | 94.29 | 1 | |
KCND3 | 100.00 | 1 | |
KIDINS220 | 99.97 | 1 | |
KIF1A | 99.96 | 1 | |
KIF1C | 99.99 | 1 | |
KIF5A | 99.93 | 1 | |
KPNA3 | 99.96 | 1 | |
L1CAM | 99.90 | 1 | |
MAG | 99.81 | 1 | |
MARS2 | 100.00 | 1 | |
MMACHC | 99.99 | 1 | |
MRE11 | 99.90 | 1 | |
MSTO1 | 98.87 | 1 | |
MTRFR | 99.85 | 1 | |
MTTP | 99.96 | 1 | |
NIPA1 | 96.26 | 1 | |
NKX6-2 | 96.38 | 1 | |
NPC1 | 99.84 | 1 | |
NPC2 | 99.99 | 1 | |
NPTX1 | 99.35 | 1 | |
NT5C2 | 99.89 | 1 | |
OPA1 | 99.87 | 1 | |
OPA3 | 100.00 | 1 | |
PCDH12 | 100.00 | 1 | |
PCYT2 | 97.60 | 1 | |
PDYN | 99.98 | 1 | |
PEX7 | 99.87 | 1 | |
PGAP1 | 99.64 | 1 | |
PHYH | 99.65 | 1 | |
PLA2G6 | 99.98 | 1 | |
PLP1 | 99.93 | 1 | |
PMPCA | 99.99 | 1 | |
PMPCB | 99.98 | 1 | |
PNKP | 100.00 | 1 | |
PNPLA6 | 99.88 | 1 | |
POLG | 99.98 | 1 | |
POLR3A | 99.95 | 1 | |
PRICKLE1 | 99.97 | 1 | |
PRKCG | 99.90 | 1 | |
PUM1 | 99.95 | 1 | |
RARS2 | 97.34 | 1 | |
REEP1 | 99.99 | 1 | |
REEP2 | 100.00 | 1 | |
RFC1 | 99.44 | 1 | |
RNF170 | 99.94 | 1 | |
RNF216 | 99.99 | 1 | |
RNF220 | 99.95 | 1 | |
RTN2 | 99.99 | 1 | |
RUBCN | 99.94 | 1 | |
SACS | 99.98 | 1 | |
SAMD9L | 99.98 | 1 | |
SCN8A | 99.90 | 1 | |
SCYL1 | 99.64 | 1 | |
SELENOI | 99.88 | 1 | |
SEPSECS | 99.84 | 1 | |
SETX | 99.96 | 1 | |
SIL1 | 99.99 | 1 | |
SLC1A3 | 99.90 | 1 | |
SLC1A4 | 99.95 | 1 | |
SLC25A46 | 99.93 | 1 | |
SLC33A1 | 99.82 | 1 | |
SLC9A1 | 99.86 | 1 | |
SNX14 | 99.73 | 1 | |
SPART | 99.99 | 1 | |
SPAST | 99.83 | 1 | |
SPG11 | 99.94 | 1 | |
SPG21 | 99.99 | 1 | |
SPG7 | 99.99 | 1 | |
SPTAN1 | 99.97 | 1 | |
SPTBN2 | 99.99 | 1 | |
SQSTM1 | 100.00 | 1 | |
STUB1 | 99.73 | 1 | |
SYNE1 | 99.96 | 1 | |
TDP2 | 99.85 | 1 | |
TFG | 99.34 | 1 | |
TGM6 | 100.00 | 1 | |
THG1L | 99.95 | 1 | |
TMEM240 | 99.83 | 1 | |
TMEM63C | 99.99 | 1 | |
TOE1 | 99.99 | 1 | |
TPP1 | 99.88 | 1 | |
TSEN2 | 86.92 | 1 | |
TSEN54 | 98.24 | 1 | |
TTBK2 | 99.88 | 1 | |
TTPA | 99.97 | 1 | |
TUBB4A | 98.81 | 1 | |
UBAP1 | 99.96 | 1 | |
UCHL1 | 99.99 | 1 | |
VAMP1 | 99.70 | 1 | |
VLDLR | 99.93 | 1 | |
VPS13D | 99.85 | 1 | |
VPS41 | 99.95 | 1 | |
VPS53 | 99.98 | 1 | |
VRK1 | 99.94 | 1 | |
WASHC5 | 99.90 | 1 | |
WDR45B | 99.96 | 1 | |
WDR73 | 99.99 | 1 | |
WDR81 | 100.00 | 1 | |
ZFYVE26 | 99.96 | 1 |