Spastic Paraplegia (89 genes) - IPG
Full name: |
Spastic Paraplegia (89 genes) - IPG
|
Version number: |
V4
|
Laboratory: | |
Created: |
04 Jul 2019 - 10:44
|
Changed: |
01 Dec 2023 - 12:53
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ADAR | 100.00 | 1 | NM_001111.5 |
AFG3L2 | 100.00 | 1 | NM_006796.3 |
ALDH18A1 | 100.00 | 1 | NM_002860.4 |
ALDH3A2 | 100.00 | 1 | NM_000382.3 |
ALS2 | 100.00 | 1 | NM_020919.4 |
AMPD2 | 100.00 | 1 | NM_001368809.2 |
AP4B1 | 100.00 | 1 | NM_001253852.3 |
AP4E1 | 100.00 | 1 | NM_007347.5 |
AP4M1 | 100.00 | 1 | NM_004722.4 |
AP4S1 | 100.00 | 1 | NM_001128126.3 |
AP5Z1 | 100.00 | 1 | NM_014855.3 |
ARL6IP1 | 100.00 | 1 | NM_015161.3 |
ARSI | 100.00 | 1 | NM_001012301.4 |
ATL1 | 100.00 | 1 | NM_015915.5 |
ATXN1 | 100.00 | 1 | NM_000332.3 |
B4GALNT1 | 100.00 | 1 | NM_001478.5 |
BICD2 | 100.00 | 1 | NM_001003800.2 |
BSCL2 | 100.00 | 1 | NM_001122955.3 |
C19ORF12 | 100.00 | 1 | NM_031448.6 |
CAPN1 | 100.00 | 1 | NM_005186.4 |
CCT5 | 100.00 | 1 | NM_012073.5 |
COA8 | 100.00 | 1 | NM_001370595.1 |
CPT1C | 100.00 | 1 | NM_001199753.1 |
CYP27A1 | 100.00 | 1 | NM_000784.4 |
CYP2U1 | 100.00 | 1 | NM_183075.3 |
CYP7B1 | 100.00 | 1 | NM_004820.5 |
DDHD1 | 100.00 | 1 | NM_001160148.2 |
DDHD2 | 100.00 | 1 | NM_015214.3 |
DSTYK | 100.00 | 1 | NM_015375.3 |
ENTPD1 | 100.00 | 1 | NM_001776.6 |
ERLIN1 | 100.00 | 1 | NM_006459.4 |
ERLIN2 | 100.00 | 1 | NM_007175.8 |
FA2H | 100.00 | 1 | NM_024306.5 |
FARS2 | 100.00 | 1 | NM_006567.5 |
FLRT1 | 100.00 | 1 | NM_013280.4 |
GAD1 | 100.00 | 1 | NM_000817.3 |
GBA2 | 100.00 | 1 | NM_020944.3 |
GFAP | 100.00 | 1 | NM_002055.5 |
GJA1 | 100.00 | 1 | NM_000165.5 |
GJC2 | 100.00 | 1 | NM_020435.4 |
GLRX5 | 100.00 | 1 | NM_016417.3 |
HACE1 | 100.00 | 1 | NM_020771.4 |
HSPD1 | 100.00 | 1 | NM_002156.5 |
IBA57 | 100.00 | 1 | NM_001010867.4 |
ITPR1 | 100.00 | 1 | NM_001168272.1 |
KIDINS220 | 100.00 | 1 | NM_020738.4 |
KIF1A | 100.00 | 1 | NM_001244008.1 |
KIF1C | 100.00 | 1 | NM_006612.6 |
KIF5A | 100.00 | 1 | NM_004984.4 |
KLC2 | 100.00 | 1 | NM_001134775.1 |
KLC4 | 100.00 | 1 | NM_201521.3 |
L1CAM | 100.00 | 1 | NM_001278116.2 |
MAG | 100.00 | 1 | NM_002361.4 |
MARS1 | 100.00 | 1 | NM_004990.4 |
MTRFR | 100.00 | 1 | NM_152269.5 |
NIPA1 | 100.00 | 1 | NM_144599.5 |
NT5C2 | 100.00 | 1 | NM_001351169.2 |
PCYT2 | 100.00 | 1 | NM_002861.5 |
PGAP1 | 100.00 | 1 | NM_024989.4 |
PLP1 | 100.00 | 1 | NM_000533.5 |
PNPLA6 | 100.00 | 1 | NM_001166111.2 |
RAB18 | 100.00 | 1 | NM_021252.5 |
RAB3GAP1 | 100.00 | 1 | NM_012233.3 |
RAB3GAP2 | 100.00 | 1 | NM_012414.4 |
REEP1 | 100.00 | 1 | NM_001371279.1 |
REEP2 | 100.00 | 1 | NM_001271803.2 |
RTN2 | 100.00 | 1 | NM_005619.5 |
SACS | 100.00 | 1 | NM_014363.6 |
SETX | 100.00 | 1 | NM_015046.7 |
SLC16A2 | 100.00 | 1 | NM_006517.5 |
SLC33A1 | 100.00 | 1 | NM_004733.4 |
SPART | 100.00 | 1 | NM_015087.5 |
SPAST | 100.00 | 1 | NM_014946.3 |
SPG11 | 100.00 | 1 | NM_025137.4 |
SPG21 | 100.00 | 1 | NM_016630.7 |
SPG7 | 100.00 | 1 | NM_003119.4 |
TBC1D20 | 100.00 | 1 | NM_144628.4 |
TECPR2 | 100.00 | 1 | NM_014844.5 |
TFG | 100.00 | 1 | NM_006070.6 |
UBAP1 | 100.00 | 1 | NM_016525.5 |
UCHL1 | 100.00 | 1 | NM_004181.5 |
USP8 | 100.00 | 1 | NM_005154.5 |
VCP | 100.00 | 1 | NM_007126.5 |
VPS37A | 100.00 | 1 | NM_152415.3 |
WASHC5 | 100.00 | 1 | NM_014846.4 |
WDR48 | 100.00 | 1 | NM_020839.4 |
ZFR | 100.00 | 1 | NM_016107.5 |
ZFYVE26 | 100.00 | 1 | NM_015346.4 |
ZFYVE27 | 100.00 | 1 | NM_001002261.3 |