Spastic Paraplegia (89 genes) - IPG

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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