Hereditary spastic paraplegia (188 genes) - ULB

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Full name:
Hereditary spastic paraplegia (188 genes) - ULB
Laboratory:
Centre de Génétique Humaine - Erasme ULB
Created:
15 Jul 2019 - 10:48
Changed:
03 May 2023 - 14:28
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABCD1 97.56 1
ABHD12 88.30 1
ADAR 100.00 1
AFG3L2 94.80 1
AIMP1 99.97 1
ALDH18A1 100.00 1
ALDH3A2 99.94 1
ALS2 100.00 1
AMPD2 99.90 1
ANG 100.00 1
AP4B1 100.00 1
AP4E1 99.99 1
AP4M1 100.00 1
AP4S1 100.00 1
AP5Z1 99.25 1
ARG1 100.00 1
ARL6IP1 100.00 1
ARSI 99.82 1
ASPA 100.00 1
ATAD3A 97.50 1
ATL1 99.89 1
ATP13A2 98.30 1
AUH 99.24 1
B4GALNT1 99.99 1
BICD2 100.00 1
BSCL2 100.00 1
BTD 100.00 1
C19ORF12 100.00 1
CAPN1 99.97 1
CCT5 99.92 1
CDK16 99.96 1
CLN8 100.00 1
COASY 100.00 1
CPT1C 100.00 1
CSF1R 99.99 1
CTNNB1 100.00 1
CYP27A1 99.38 1
CYP2U1 93.20 1
CYP7B1 100.00 1
DARS1 100.00 1
DARS2 100.00 1
DDHD1 99.58 1
DDHD2 100.00 1
DSTYK 100.00 1
ELOVL4 100.00 1
ENTPD1 100.00 1
ERCC2 98.91 1
ERLIN1 100.00 1
ERLIN2 100.00 1
EXOSC3 100.00 1
FA2H 95.71 1
FARS2 100.00 1
FBXO7 99.78 1
FIG4 100.00 1
FLRT1 100.00 1
FRMD7 99.98 1
FUS 100.00 1
FXN 100.00 1
GAD1 100.00 1
GALC 98.98 1
GAN 98.52 1
GARS1 97.89 1
GART 99.99 1
GBA1 100.00 1
GBA2 100.00 1
GBE1 100.00 1
GCH1 99.71 1
GFAP 100.00 1
GJA1 100.00 1
GJC2 96.72 1
GLB1 100.00 1
GLRX5 100.00 1
GLTP 100.00 1
GPR143 89.09 1
GSN 97.80 1
HACE1 98.41 1
HEPACAM 99.85 1
HEXA 100.00 1
HSD17B4 100.00 1
HSPD1 100.00 1
HYCC1 100.00 1
IBA57 92.01 1
IFIH1 100.00 1
IRF2BPL 97.56 1
KCNJ6 100.00 1
KCNMA1 99.93 1
KDM5C 99.97 1
KIDINS220 100.00 1
KIF1A 98.74 1
KIF1C 100.00 1
KIF5A 100.00 1
KLC2 100.00 1
KLC4 99.99 1
L1CAM 99.98 1
L2HGDH 99.75 1
LAMB1 100.00 1
LYST 100.00 1
MARS1 100.00 1
MARS2 100.00 1
MED12 99.98 1
MFN2 100.00 1
MLC1 98.57 1
MTPAP 99.98 1
MTRFR 100.00 1
NANS 100.00 1
NEFL 100.00 1
NEXMIF 100.00 1
NIPA1 92.99 1
NKX6-2 100.00 1
NT5C2 100.00 1
OCLN 100.00 1
OPA3 100.00 1
OPTN 100.00 1
PANK2 100.00 1
PDYN 100.00 1
PGAP1 100.00 1
PLA2G6 100.00 1
PLP1 100.00 1
PNPLA6 99.95 1
POLR3A 100.00 1
POLR3B 100.00 1
PPP2R2B 100.00 1
PRUNE1 100.00 1
PSEN1 100.00 1
PUM1 100.00 1
RAB18 99.99 1
RAB3GAP1 100.00 1
RAB3GAP2 100.00 1
RARS1 99.99 1
REEP1 100.00 1
REEP2 97.04 1
RETREG1 100.00 1
RNASEH2A 100.00 1
RNASEH2B 94.58 1
RNASEH2C 100.00 1
RNASET2 100.00 1
RTN2 99.44 1
SACS 99.95 1
SAMD9L 100.00 1
SAMHD1 100.00 1
SERAC1 100.00 1
SETX 100.00 1
SIL1 99.95 1
SLC16A2 99.97 1
SLC25A15 100.00 1
SLC25A46 100.00 1
SLC2A1 100.00 1
SLC33A1 100.00 1
SLC39A14 99.94 1
SMPD1 100.00 1
SOD1 100.00 1
SOX10 100.00 1
SPART 100.00 1
SPAST 99.83 1
SPG11 100.00 1
SPG21 100.00 1
SPG7 95.78 1
SPR 99.98 1
SUN1 100.00 1
SYNE1 100.00 1
TANGO2 99.94 1
TARDBP 99.43 1
TBC1D20 95.06 1
TECPR2 99.92 1
TFG 99.98 1
TGM6 100.00 1
TH 98.79 1
TRPV4 100.00 1
TTBK2 100.00 1
TUBB4A 100.00 1
TUBG1 100.00 1
UBQLN2 99.30 1
UCHL1 99.66 1
USP8 100.00 1
VAMP1 100.00 1
VAPB 99.77 1
VCP 97.10 1
VPS13B 100.00 1
VPS37A 99.28 1
WASHC5 100.00 1
WDR45 100.00 1
WDR45B 99.94 1
WDR48 100.00 1
ZC4H2 100.00 1
ZFR 100.00 1
ZFYVE26 100.00 1
ZFYVE27 100.00 1