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  2. Autosomal dominant spastic paraplegia type 17

Autosomal dominant spastic paraplegia type 17

Disease Export to PDF
Name:
Autosomal dominant spastic paraplegia type 17
Description:
A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.
ORPHAcode:
100998
Synonyms:
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
BSCL2
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