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Autosomal recessive spastic paraplegia type 55

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Name:
Autosomal recessive spastic paraplegia type 55
Description:
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.
ORPHAcode:
320375
Synonyms:
SPG55
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
MTRFR
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 NM_001605.2
    ABCD1 100.00 0 NM_000033.3
    ABHD12 98.00 0 NM_001042472.2
    AGTPBP1 99.90 0 NM_001286715.1
    AIFM1 100.00 0 NM_004208.3
    APTX 99.00 0 NM_175073.2
    ARHGEF10 100.00 0 NM_014629.3
    ATL1 100.00 0 NM_015915.4
    ATL3 100.00 0 NM_015459.4
    ATP1A1 100.00 0 NM_000701.7
    ATP7A 100.00 0 NM_000052.6
    BAG3 100.00 0 NM_004281.3
    BICD2 100.00 0 NM_001003800.1
    BSCL2 100.00 0 NM_032667.6
    MTRFR 100.00 0 NM_152269.4
    CCT5 100.00 0 NM_012073.4
    CD59 100.00 0 NM_203330.2
    CNTNAP1 100.00 0 NM_003632.2
    COA7 100.00 0 NM_023077.2
    COX6A1 100.00 0 NM_004373.3
    CTDP1 98.90 0 NM_004715.4
    DCAF8 100.00 0 NM_015726.3
    DCTN1 100.00 0 NM_004082.4
    DGAT2 100.00 0 NM_032564.4
    DHTKD1 99.90 0 NM_018706.6
    DNAJB2 100.00 0 NM_001039550.1
    DNM2 100.00 0 NM_001005360.2
    DNMT1 99.50 0 NM_001130823.2
    DRP2 100.00 0 NM_001939.2
    DST 100.00 0 NM_001723.5
    DYNC1H1 100.00 0 NM_001376.4
    EGR2 100.00 0 NM_000399.4
    ELP1 100.00 0 NM_003640.4
    FBLN5 100.00 0 NM_006329.3
    FBXO38 100.00 0 NM_030793.4
    FGD4 100.00 0 NM_139241.3
    FIG4 100.00 0 NM_014845.5
    FLVCR1 100.00 0 NM_014053.3
    GAN 100.00 0 NM_022041.3
    GARS1 100.00 0 NM_002047.3
    GDAP1 100.00 0 NM_018972.3
    GJB1 100.00 0 NM_000166.5
    GJB3 100.00 0 NM_024009.2
    GLA 100.00 0 NM_000169.2
    GNB4 100.00 0 NM_021629.3
    HADHA 100.00 0 NM_000182.4
    HADHB 100.00 0 NM_000183.2
    HARS1 100.00 0 NM_002109.5
    HINT1 100.00 0 NM_005340.6
    HK1 100.00 0 NM_000188.2
    HOXD10 100.00 0 NM_002148.3
    HSPB1 99.00 0 NM_001540.4
    HSPB3 100.00 0 NM_006308.2
    HSPB8 100.00 0 NM_014365.2
    IARS2 100.00 0 NM_018060.3
    IFRD1 99.90 0 NM_001550.3
    IGHMBP2 100.00 0 NM_002180.2
    INF2 98.80 0 NM_022489.3
    ITPR3 99.50 0 NM_002224.3
    KARS1 100.00 0 NM_001130089.1
    KIF1A 99.90 0 NM_004321.7
    KIF1B 100.00 0 NM_015074.3
    KIF5A 100.00 0 NM_004984.3
    KLHL13 100.00 0 NM_033495.3
    LITAF 100.00 0 NM_004862.3
    LMNA 99.90 0 NM_170707.3
    LRSAM1 100.00 0 NM_138361.5
    MARS1 100.00 0 NM_004990.3
    MCM3AP 100.00 0 NM_003906.4
    MED25 100.00 0 NM_030973.3
    MFN2 100.00 0 NM_014874.3
    MME 100.00 0 NM_007289.3
    MORC2 100.00 0 NM_001303256.2
    MPV17 100.00 0 NM_002437.4
    MPZ 100.00 0 NM_000530.7
    MTMR2 100.00 0 NM_016156.5
    MYH7B 99.80 0 NM_024729.3
    NAGLU 99.70 0 NM_000263.3
    NDRG1 100.00 0 NM_006096.3
    NEFH 99.50 0 NM_021076.3
    NEFL 99.60 0 NM_006158.4
    NGF 100.00 0 NM_002506.2
    NTRK1 100.00 0 NM_001012331.1
    MED12 100.00 0 NM_015560.2
    OPA3 100.00 0 NM_025136.3
    PDK3 100.00 0 NM_001142386.2
    PDXK 100.00 0 NM_003681.4
    PEX1 100.00 0 NM_000466.2
    PEX7 100.00 0 NM_000288.3
    PHYH 100.00 0 NM_006214.3
    PLEKHG5 99.80 0 NM_020631.4
    PMP2 100.00 0 NM_002677.4
    PMP22 100.00 0 NM_000304.3
    PNKP 99.80 0 NM_007254.3
    POLG 100.00 0 NM_002693.2
    PRDM12 90.30 0 NM_021619.2
    PRNP 100.00 0 NM_000311.4
    PRPS1 100.00 0 NM_002764.3
    PRX 100.00 0 NM_181882.2
    RAB7A 100.00 0 NM_004637.5
    REEP1 100.00 0 NM_022912.2
    RETREG1 99.40 0 NM_001034850.2
    SBF1 99.70 0 NM_002972.3
    SBF2 100.00 0 NM_030962.3
    SCN10A 100.00 0 NM_006514.3
    SCN11A 99.80 0 NM_014139.2
    SCN9A 100.00 0 NM_002977.3
    SCO2 100.00 0 NM_005138.2
    SCP2 100.00 0 NM_002979.4
    SEPTIN9 99.20 0 NM_006640.4
    SETX 100.00 0 NM_015046.6
    SGPL1 100.00 0 NM_003901.3
    SH3BP4 100.00 0 NM_014521.2
    SH3TC2 100.00 0 NM_024577.3
    SIGMAR1 100.00 0 NM_005866.3
    SLC12A6 100.00 0 NM_133647.1
    SLC25A46 100.00 0 NM_138773.3
    SLC5A7 100.00 0 NM_021815.4
    SORD 91.20 0 NM_003104.5
    SOX10 100.00 0 NM_006941.3
    SPG11 100.00 0 NM_025137.3
    SPTLC1 100.00 0 NM_006415.3
    SPTLC2 100.00 0 NM_004863.3
    SURF1 99.00 0 NM_003172.3
    TDP1 100.00 0 NM_018319.3
    TECPR2 100.00 0 NM_014844.4
    TFG 100.00 0 NM_006070.5
    TRIM2 100.00 0 NM_001130067.1
    TRPA1 100.00 0 NM_007332.2
    TRPV4 99.90 0 NM_021625.4
    TTR 100.00 0 NM_000371.3
    TUBB3 100.00 0 NM_006086.3
    TWNK 100.00 0 NM_021830.4
    TYMP 100.00 0 NM_001953.4
    VCP 99.90 0 NM_007126.4
    VRK1 100.00 0 NM_003384.2
    WARS1 99.80 0 NM_004184.3
    WNK1 99.80 0 NM_018979.3
    YARS1 100.00 0 NM_003680.3
  • 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