Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA

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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