Hereditary Spastic Paraplegia (94 genes) - KUL

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Full name:
Hereditary Spastic Paraplegia (94 genes) - KUL
Abbreviation:
HSP
Laboratory:
Created:
17 Sep 2020 - 14:23
Changed:
29 Aug 2022 - 11:53
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABCD1 95.00 0 interpretable range CS1>95%
ADAR 95.00 0 interpretable range CS1>95%
AFG3L2 95.00 0 interpretable range CS1>95%
AIMP1 95.00 0 interpretable range CS1>95%
ALDH18A1 95.00 0 interpretable range CS1>95%
ALDH3A2 95.00 0 interpretable range CS1>95%
ALS2 95.00 0 interpretable range CS1>95%
AMPD2 95.00 0 interpretable range CS1>95%
AP4B1 95.00 0 interpretable range CS1>95%
AP4E1 95.00 0 interpretable range CS1>95%
AP4M1 95.00 0 interpretable range CS1>95%
AP4S1 95.00 0 interpretable range CS1>95%
AP5Z1 95.00 0 interpretable range CS1>95%
ARL6IP1 95.00 0 interpretable range CS1>95%
ARSI 95.00 0 interpretable range CS1>95%
ATL1 95.00 0 interpretable range CS1>95%
ATP13A2 95.00 0 interpretable range CS1>95%
B4GALNT1 95.00 0 interpretable range CS1>95%
BICD2 95.00 0 interpretable range CS1>95%
BRAF 95.00 0 interpretable range CS1>95%
BSCL2 95.00 0 interpretable range CS1>95%
C19ORF12 95.00 0 interpretable range CS1>95%
CAPN1 95.00 0 interpretable range CS1>95%
CBL 95.00 0 interpretable range CS1>95%
CCT5 95.00 0 interpretable range CS1>95%
CPT1C 95.00 0 interpretable range CS1>95%
CYP27A1 95.00 0 interpretable range CS1>95%
CYP2U1 95.00 0 interpretable range CS1>95%
CYP7B1 95.00 0 interpretable range CS1>95%
DARS1 95.00 0 interpretable range CS1>95%
DDHD1 95.00 0 interpretable range CS1>95%
DDHD2 95.00 0 interpretable range CS1>95%
DSTYK 95.00 0 interpretable range CS1>95%
ENTPD1 95.00 0 interpretable range CS1>95%
ERCC2 95.00 0 interpretable range CS1>95%
ERLIN1 95.00 0 interpretable range CS1>95%
ERLIN2 95.00 0 interpretable range CS1>95%
FA2H 95.00 0 interpretable range CS1>95%
FARS2 95.00 0 interpretable range CS1>95%
FLRT1 95.00 0 interpretable range CS1>95%
GBA2 95.00 0 interpretable range CS1>95%
GCH1 95.00 0 interpretable range CS1>95%
GJC2 95.00 0 interpretable range CS1>95%
HACE1 95.00 0 interpretable range CS1>95%
HRAS 95.00 0 interpretable range CS1>95%
HSPD1 95.00 0 interpretable range CS1>95%
IBA57 95.00 0 interpretable range CS1>95%
KCNA2 95.00 0 interpretable range CS1>95%
KDM5C 95.00 0 interpretable range CS1>95%
KIDINS220 95.00 0 interpretable range CS1>95%
KIF1A 95.00 0 interpretable range CS1>95%
KIF1C 95.00 0 interpretable range CS1>95%
KIF5A 95.00 0 interpretable range CS1>95%
KLC2 95.00 0 interpretable range CS1>95%
KRAS 95.00 0 interpretable range CS1>95%
L1CAM 95.00 0 interpretable range CS1>95%
MAP2K1 95.00 0 interpretable range CS1>95%
MAP2K2 95.00 0 interpretable range CS1>95%
MARS1 95.00 0 interpretable range CS1>95%
MARS2 95.00 0 interpretable range CS1>95%
MTPAP 95.00 0 interpretable range CS1>95%
MTRFR 95.00 0 interpretable range CS1>95%
NIPA1 95.00 0 interpretable range CS1>95%
NKX6-2 95.00 0 interpretable range CS1>95%
NRAS 95.00 0 interpretable range CS1>95%
NT5C2 95.00 0 interpretable range CS1>95%
OPA3 95.00 0 interpretable range CS1>95%
PCYT2 95.00 0 interpretable range CS1>95%
PGAP1 95.00 0 interpretable range CS1>95%
PLP1 95.00 0 interpretable range CS1>95%
PNPLA6 95.00 0 interpretable range CS1>95%
POLR3A 95.00 0 interpretable range CS1>95%
PTPN11 95.00 0 interpretable range CS1>95%
RAB3GAP2 95.00 0 interpretable range CS1>95%
RAF1 95.00 0 interpretable range CS1>95%
REEP1 95.00 0 interpretable range CS1>95%
REEP2 95.00 0 interpretable range CS1>95%
RIT1 95.00 0 interpretable range CS1>95%
RNASEH2B 95.00 0 interpretable range CS1>95%
RTN2 95.00 0 interpretable range CS1>95%
SACS 95.00 0 interpretable range CS1>95%
SERAC1 95.00 0 interpretable range CS1>95%
SHOC2 95.00 0 interpretable range CS1>95%
SLC16A2 95.00 0 interpretable range CS1>95%
SLC1A4 95.00 0 interpretable range CS1>95%
SLC2A1 95.00 0 interpretable range CS1>95%
SLC33A1 95.00 0 interpretable range CS1>95%
SOS1 95.00 0 interpretable range CS1>95%
SPART 95.00 0 interpretable range CS1>95%
SPAST 95.00 0 interpretable range CS1>95%
SPG11 95.00 0 interpretable range CS1>95%
SPG21 95.00 0 interpretable range CS1>95%
SPG7 95.00 0 interpretable range CS1>95%
TECPR2 95.00 0 interpretable range CS1>95%
TFG 95.00 0 interpretable range CS1>95%
TUBB4A 95.00 0 interpretable range CS1>95%
UBAP1 95.00 0 interpretable range CS1>95%
UCHL1 95.00 0 interpretable range CS1>95%
USP8 95.00 0 interpretable range CS1>95%
VAMP1 95.00 0 interpretable range CS1>95%
VPS37A 95.00 0 interpretable range CS1>95%
WASHC5 95.00 0 interpretable range CS1>95%
WDR48 95.00 0 interpretable range CS1>95%
ZFR 95.00 0 interpretable range CS1>95%
ZFYVE26 95.00 0 interpretable range CS1>95%
ZFYVE27 95.00 0 interpretable range CS1>95%