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Autosomal spastic paraplegia type 30

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Name:
Autosomal spastic paraplegia type 30
Description:
A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
ORPHAcode:
101010
Synonyms:
SPG30
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
KIF1A
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
  • Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AMPD2 99.99 1
    AP4B1 99.97 1
    ATP13A2 99.98 1
    CAMTA1 99.97 1
    COA7 100.00 1
    COQ8A 100.00 1
    COX20 99.40 1
    DARS2 99.86 1
    EIF2B3 99.95 1
    FLVCR1 99.93 1
    GDAP2 99.96 1
    GJC2 96.12 1
    HPDL 100.00 1
    IBA57 96.45 1
    KCNA2 100.00 1
    KCND3 100.00 1
    MMACHC 99.99 1
    MSTO1 98.87 1
    PUM1 99.95 1
    RNF220 99.95 1
    SLC9A1 99.86 1
    TMEM240 99.83 1
    TOE1 99.99 1
    VPS13D 99.85 1
    ALDH18A1 99.96 1
    CWF19L1 99.89 1
    ENTPD1 99.90 1
    ERLIN1 99.96 1
    NKX6-2 96.38 1
    NT5C2 99.89 1
    PHYH 99.65 1
    POLR3A 99.95 1
    ATM 99.83 1
    BSCL2 100.00 1
    CAPN1 100.00 1
    CLP1 100.00 1
    FAR1 99.83 1
    HIKESHI 99.89 1
    MRE11 99.90 1
    SCYL1 99.64 1
    SPTBN2 99.99 1
    TPP1 99.88 1
    AAAS 99.98 1
    B4GALNT1 99.95 1
    EIF2B1 99.96 1
    KCNA1 99.96 1
    KIF5A 99.93 1
    MTRFR 99.85 1
    PRICKLE1 99.97 1
    SCN8A 99.90 1
    VAMP1 99.70 1
    ATP7B 99.99 1
    ATP8A2 99.96 1
    EXOSC8 99.69 1
    FGF14 99.79 1
    KPNA3 99.96 1
    SACS 99.98 1
    SPART 99.99 1
    AP4S1 87.70 1
    ATL1 99.95 1
    DDHD1 99.98 1
    EIF2B2 99.84 1
    GALC 99.88 1
    GCH1 99.74 1
    GLRX5 98.29 1
    IRF2BPL 98.65 1
    NPC2 99.99 1
    TMEM63C 99.99 1
    VRK1 99.94 1
    ZFYVE26 99.96 1
    AP4E1 99.89 1
    CLN6 98.04 1
    HEXA 99.98 1
    NIPA1 96.26 1
    POLG 99.98 1
    SPG11 99.94 1
    SPG21 99.99 1
    TTBK2 99.88 1
    WDR73 99.99 1
    ARL6IP1 99.84 1
    CHMP1A 100.00 1
    FA2H 99.93 1
    SPG7 99.99 1
    STUB1 99.73 1
    CACNA1G 99.89 1
    COASY 99.98 1
    GFAP 99.94 1
    GOSR2 99.75 1
    KIF1C 99.99 1
    NPTX1 99.35 1
    PCYT2 97.60 1
    TSEN54 98.24 1
    VPS53 99.98 1
    WDR45B 99.96 1
    WDR81 100.00 1
    AFG3L2 99.82 1
    NPC1 99.84 1
    ATCAY 99.99 1
    ATP1A3 99.99 1
    C19ORF12 99.36 1
    CACNA1A 99.66 1
    CPT1C 99.99 1
    DNMT1 99.88 1
    EEF2 99.99 1
    KCNC3 94.29 1
    MAG 99.81 1
    OPA3 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    PRKCG 99.90 1
    RTN2 99.99 1
    TUBB4A 98.81 1
    ALS2 99.91 1
    ATP5MC3 100.00 1
    CYP27A1 99.96 1
    DARS1 99.87 1
    EIF2B4 99.94 1
    HSPD1 99.95 1
    KIDINS220 99.97 1
    KIF1A 99.96 1
    MARS2 100.00 1
    PGAP1 99.64 1
    REEP1 99.99 1
    SELENOI 99.88 1
    SLC1A4 99.95 1
    SPAST 99.83 1
    ABHD12 99.11 1
    DNAJC5 99.99 1
    PDYN 99.98 1
    TGM6 100.00 1
    ARSA 100.00 1
    PLA2G6 99.98 1
    ANO10 99.92 1
    ATG7 99.98 1
    BTD 99.99 1
    CACNA2D2 99.32 1
    CLCN2 99.97 1
    CTNNB1 99.98 1
    EIF2B5 99.95 1
    ITPR1 99.94 1
    OPA1 99.87 1
    RUBCN 99.94 1
    SLC33A1 99.82 1
    TFG 99.34 1
    TSEN2 86.92 1
    AIMP1 99.90 1
    CYP2U1 97.44 1
    EXOSC9 99.86 1
    GRID2 99.98 1
    MTTP 99.96 1
    RFC1 99.44 1
    SEPSECS 99.84 1
    UCHL1 99.99 1
    CCT5 99.97 1
    FAT2 99.94 1
    HEXB 99.91 1
    PCDH12 100.00 1
    REEP2 100.00 1
    SIL1 99.99 1
    SLC1A3 99.90 1
    SLC25A46 99.93 1
    SQSTM1 100.00 1
    THG1L 99.95 1
    ABHD16A 100.00 1
    ARG1 99.98 1
    ELOVL4 99.92 1
    ELOVL5 99.95 1
    FARS2 99.98 1
    GRM1 99.87 1
    HACE1 99.91 1
    PEX7 99.87 1
    RARS2 97.34 1
    SNX14 99.73 1
    SYNE1 99.96 1
    TDP2 99.85 1
    AP4M1 100.00 1
    AP5Z1 99.94 1
    COG5 99.92 1
    IFRD1 99.96 1
    PMPCB 99.98 1
    RNF216 99.99 1
    SAMD9L 99.98 1
    VPS41 99.95 1
    CA8 99.97 1
    CYP7B1 99.87 1
    DDHD2 99.74 1
    ERLIN2 99.94 1
    GPAA1 99.88 1
    RNF170 99.94 1
    TTPA 99.97 1
    WASHC5 99.90 1
    APTX 99.92 1
    AUH 99.95 1
    EXOSC3 99.98 1
    GBA2 99.97 1
    INPP5E 99.75 1
    PMPCA 99.99 1
    SETX 99.96 1
    SPTAN1 99.97 1
    UBAP1 99.96 1
    VLDLR 99.93 1
    ABCB7 98.62 1
    ABCD1 99.78 1
    AIFM1 99.43 1
    AP1S2 97.43 1
    ATP2B3 99.82 1
    CASK 99.40 1
    L1CAM 99.90 1
    PLP1 99.93 1
  • 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