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Autosomal recessive spastic paraplegia type 54

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Name:
Autosomal recessive spastic paraplegia type 54
Description:
Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
ORPHAcode:
320380
Synonyms:
SPG54
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
DDHD2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Spastic Paraplegia (89 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    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
    B4GALNT1 100.00 1 NM_001478.5
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    C19ORF12 100.00 1 NM_031448.6
    CCT5 100.00 1 NM_012073.5
    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
    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
    FLRT1 100.00 1 NM_013280.4
    GAD1 100.00 1 NM_000817.3
    GBA2 100.00 1 NM_020944.3
    GJA1 100.00 1 NM_000165.5
    GJC2 100.00 1 NM_020435.4
    HSPD1 100.00 1 NM_002156.5
    KIF1A 100.00 1 NM_001244008.1
    KIF1C 100.00 1 NM_006612.6
    KIF5A 100.00 1 NM_004984.4
    L1CAM 100.00 1 NM_001278116.2
    MAG 100.00 1 NM_002361.4
    MARS1 100.00 1 NM_004990.4
    NIPA1 100.00 1 NM_144599.5
    NT5C2 100.00 1 NM_001351169.2
    PGAP1 100.00 1 NM_024989.4
    PLP1 100.00 1 NM_000533.5
    PNPLA6 100.00 1 NM_001166111.2
    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
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    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
    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
    ATXN1 100.00 1 NM_000332.3
    CAPN1 100.00 1 NM_005186.4
    COA8 100.00 1 NM_001370595.1
    CPT1C 100.00 1 NM_001199753.1
    CYP27A1 100.00 1 NM_000784.4
    DSTYK 100.00 1 NM_015375.3
    FARS2 100.00 1 NM_006567.5
    GFAP 100.00 1 NM_002055.5
    GLRX5 100.00 1 NM_016417.3
    HACE1 100.00 1 NM_020771.4
    IBA57 100.00 1 NM_001010867.4
    ITPR1 100.00 1 NM_001168272.1
    KIDINS220 100.00 1 NM_020738.4
    KLC2 100.00 1 NM_001134775.1
    KLC4 100.00 1 NM_201521.3
    PCYT2 100.00 1 NM_002861.5
    RAB18 100.00 1 NM_021252.5
    RAB3GAP1 100.00 1 NM_012233.3
    TBC1D20 100.00 1 NM_144628.4
    UBAP1 100.00 1 NM_016525.5
    UCHL1 100.00 1 NM_004181.5
    ZFYVE27 100.00 1 NM_001002261.3