Hereditary Spastic Paraplegia (94 genes) - KUL
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% |