1. Analytes
  2. UCHL1

UCHL1

Analyte Export to PDF
Name:
ubiquitin C-terminal hydrolase L1
Symbol:
UCHL1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
PGP9.5
Uch-L1
ubiquitin thiolesterase
XREF(s):
Orphanet
Reactome
Ensembl
Genatlas
HGNC
OMIM
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Ataxia Spasticity - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AARS1 99.99 1
    ABCA2 100.00 1
    ABCB7 99.58 1
    ABCD1 99.98 1
    ABHD12 99.98 1
    ACO2 99.99 1
    ADAR 99.84 1
    ADGRG1 99.90 1
    ADPRS 99.94 1
    AFG3L2 99.97 1
    AGTPBP1 99.68 1
    AHI1 99.86 1
    AIFM1 99.92 1
    AIMP1 99.97 1
    ALDH18A1 99.96 1
    ALDH5A1 96.19 1
    ALG6 93.37 1
    ALS2 99.87 1
    AMPD2 99.91 1
    ANO10 99.93 1
    AP4B1 96.92 1
    AP4E1 99.94 1
    AP4M1 99.98 1
    AP4S1 87.89 1
    AP5Z1 100.00 1
    APOB 99.99 1
    APTX 99.92 1
    ARG1 99.95 1
    ARL13B 99.53 1
    ARL6IP1 99.51 1
    ARSA 99.99 1
    ARSI 100.00 1
    ARX 95.36 1
    ASPA 99.98 1
    ATCAY 100.00 1
    ATG5 99.81 1
    ATL1 99.95 1
    ATM 99.83 1
    ATP13A2 99.96 1
    ATP1A3 99.98 1
    ATP2B3 99.98 1
    ATP7B 100.00 1
    ATP8A2 100.00 1
    AUH 99.95 1
    B4GALNT1 99.97 1
    BCKDHA 99.97 1
    BCKDHB 99.73 1
    BCL11B 100.00 1
    BCS1L 99.99 1
    BICD2 99.99 1
    BSCL2 99.99 1
    BTD 100.00 1
    C19ORF12 99.99 1
    CA8 99.71 1
    CACNA1A 98.16 1
    CACNA1E 99.82 1
    CACNA1G 99.95 1
    CACNB4 99.20 1
    CAMTA1 99.97 1
    CAPN1 99.99 1
    CC2D2A 99.95 1
    CCDC88C 100.00 1
    CCT5 99.99 1
    CDK16 99.99 1
    CEP290 98.10 1
    CHP1 99.90 1
    CLCN2 100.00 1
    CNTNAP1 99.98 1
    COA7 99.91 1
    COQ2 99.90 1
    COQ4 100.00 1
    COQ8A 100.00 1
    COQ9 99.62 1
    COX10 99.99 1
    COX15 100.00 1
    COX20 99.67 1
    CP 99.95 1
    CPT1C 99.99 1
    CSTB 100.00 1
    CTBP1 99.98 1
    CWF19L1 99.91 1
    CYP27A1 100.00 1
    CYP2U1 99.99 1
    CYP7B1 99.82 1
    DAB1 97.87 1
    DARS1 98.85 1
    DARS2 98.31 1
    DBT 94.51 1
    DDHD1 99.93 1
    DDHD2 99.97 1
    DDX3X 99.01 1
    DEGS1 99.99 1
    DLAT 99.65 1
    DLD 99.89 1
    DNAJC19 99.76 1
    DNAJC3 99.92 1
    DNAJC5 99.99 1
    DNMT1 99.13 1
    DOCK3 99.96 1
    EARS2 99.96 1
    EBF3 99.99 1
    ECHS1 100.00 1
    EEF2 99.95 1
    EIF2AK1 99.90 1
    ELOVL1 100.00 1
    ELOVL4 99.91 1
    ELOVL5 99.87 1
    EMC1 99.85 1
    ENTPD1 99.98 1
    EPM2A 99.99 1
    ERCC1 99.96 1
    ERCC4 99.92 1
    ERCC8 99.79 1
    ERLIN1 99.98 1
    ERLIN2 99.94 1
    EXOSC3 100.00 1
    FA2H 99.98 1
    FARS2 100.00 1
    FASTKD2 99.93 1
    FAT2 99.99 1
    FGF14 99.99 1
    FITM2 99.99 1
    FLRT1 100.00 1
    FLVCR1 99.91 1
    FOLR1 100.00 1
    FRMD4A 100.00 1
    FRMD7 99.97 1
    GALC 99.92 1
    GAN 99.98 1
    GBA2 99.99 1
    GBE1 99.73 1
    GDAP2 95.02 1
    GFAP 99.99 1
    GFM2 99.87 1
    GJC2 100.00 1
    GLB1 100.00 1
    GLRX5 100.00 1
    GLS 99.78 1
    GM2A 100.00 1
    GOSR2 98.92 1
    GPR143 99.60 1
    GRID2 99.97 1
    GRIN1 100.00 1
    GRM1 100.00 1
    GRN 100.00 1
    GSX2 100.00 1
    HACE1 99.76 1
    HEXA 99.99 1
    HEXB 99.91 1
    HSD17B10 99.98 1
    HSD17B4 99.71 1
    HSPD1 83.42 1
    IBA57 100.00 1
    IFIH1 99.84 1
    IFRD1 99.67 1
    IFT140 100.00 1
    INTS8 99.89 1
    IRF2BPL 99.21 1
    ISCA1 99.79 1
    ITM2B 99.85 1
    ITPR1 99.98 1
    JAM2 91.82 1
    KANK1 99.99 1
    KCNA1 100.00 1
    KCNA2 99.99 1
    KCNA4 100.00 1
    KCNC3 99.98 1
    KCND3 99.98 1
    KCNJ10 99.98 1
    KCNJ6 100.00 1
    KCNMA1 99.89 1
    KCNQ2 100.00 1
    KCTD7 99.98 1
    KIDINS220 99.94 1
    KIF1A 99.96 1
    KIF1C 99.99 1
    KIF5A 99.91 1
    KLC2 100.00 1
    L1CAM 99.98 1
    L2HGDH 99.92 1
    LAMA1 99.98 1
    LAMB1 99.87 1
    LIPT2 99.99 1
    LYRM7 99.98 1
    LYST 99.87 1
    ERCC2 99.99 1
    MAN2B1 99.99 1
    MARS1 99.97 1
    MARS2 100.00 1
    MCOLN1 100.00 1
    MECP2 99.95 1
    MLC1 99.99 1
    MMADHC 99.76 1
    MME 97.17 1
    MPV17 99.98 1
    MRE11 99.93 1
    MRPS34 100.00 1
    MSTO1 76.34 1
    MTCL1 100.00 1
    MTPAP 99.97 1
    MTRFR 99.87 1
    MTTP 99.92 1
    MYORG 99.99 1
    NANS 100.00 1
    NDUFA9 100.00 1
    NDUFAF4 99.95 1
    NDUFAF6 99.86 1
    NDUFS1 99.79 1
    NDUFS3 100.00 1
    NDUFS7 99.99 1
    NEFL 100.00 1
    NEU1 99.98 1
    NEXMIF 99.99 1
    NF2 100.00 1
    NHLRC1 100.00 1
    NIPA1 99.91 1
    NKX6-2 100.00 1
    NOL3 100.00 1
    NPC1 99.99 1
    NPC2 100.00 1
    NT5C2 99.96 1
    NTNG2 99.98 1
    NUP93 99.87 1
    NUS1 99.90 1
    OCLN 82.91 1
    OFD1 99.68 1
    MED12 99.95 1
    OPA3 100.00 1
    OPHN1 99.92 1
    OTC 99.42 1
    PARS2 99.99 1
    PODXL 99.99 1
    PCDH12 100.00 1
    PCYT2 100.00 1
    PDHA1 99.04 1
    PDHX 99.64 1
    PDYN 100.00 1
    PEX10 100.00 1
    PEX16 99.94 1
    PEX7 99.72 1
    PGAP1 99.56 1
    PHYH 100.00 1
    PIK3R5 99.99 1
    PLA2G6 99.98 1
    PLAA 99.79 1
    PLD3 99.99 1
    PLP1 99.98 1
    PMM2 99.93 1
    PMPCA 99.99 1
    PMPCB 99.94 1
    PNKP 100.00 1
    PNPLA6 99.99 1
    POLG 100.00 1
    POLR3A 99.97 1
    POLR3B 99.94 1
    PRF1 100.00 1
    PRKCG 99.99 1
    PRNP 100.00 1
    PRPS1 99.95 1
    PRRT2 99.97 1
    PSAP 99.94 1
    PSEN1 100.00 1
    PTPN23 100.00 1
    PTRH2 99.99 1
    PUM1 98.14 1
    RAB11B 100.00 1
    RAB18 99.76 1
    RAB3GAP1 99.73 1
    RAB3GAP2 99.69 1
    REEP1 99.97 1
    REEP2 99.99 1
    RETREG1 99.99 1
    RNASEH2A 99.95 1
    RNASEH2B 99.94 1
    RNASEH2C 99.99 1
    RNF168 99.97 1
    RNF170 99.90 1
    RNF216 99.99 1
    RORA 99.97 1
    RPGRIP1L 96.35 1
    RTN2 99.98 1
    RTN4IP1 99.98 1
    RUBCN 100.00 1
    SACS 99.97 1
    SAMD9L 99.95 1
    SAMHD1 99.98 1
    SARS1 98.53 1
    SCN8A 99.77 1
    SCYL1 100.00 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SDHD 82.93 1
    SEPSECS 99.78 1
    SETX 99.97 1
    SIL1 99.95 1
    SLC13A5 99.99 1
    SLC16A2 99.97 1
    SLC17A5 99.71 1
    SLC19A3 99.95 1
    SLC1A3 99.98 1
    SLC1A4 99.97 1
    SLC25A15 100.00 1
    SLC25A46 99.88 1
    SLC2A1 99.93 1
    SLC33A1 99.67 1
    SLC44A1 99.90 1
    SLC52A2 100.00 1
    SLC52A3 99.94 1
    SLC6A8 99.99 1
    SLC9A1 99.96 1
    SLC9A6 99.42 1
    SMPD1 100.00 1
    SNAP25 99.89 1
    SNX14 99.73 1
    SOX10 100.00 1
    SPART 99.98 1
    SPAST 99.77 1
    SPG11 99.89 1
    SPG21 99.97 1
    SPG7 99.99 1
    SPR 99.99 1
    SPTAN1 99.96 1
    SPTBN2 99.98 1
    SQSTM1 100.00 1
    SRD5A3 99.94 1
    STUB1 99.99 1
    SUCLA2 99.96 1
    SUOX 100.00 1
    SURF1 100.00 1
    SVBP 99.04 1
    SYNE1 99.95 1
    SYT14 99.94 1
    TANGO2 99.85 1
    TBC1D20 100.00 1
    TDP1 99.97 1
    TDP2 99.97 1
    TECPR2 99.96 1
    TENM3 99.99 1
    TFG 98.68 1
    TGM6 99.99 1
    THG1L 99.99 1
    TMEM216 99.98 1
    TMEM231 88.88 1
    TMEM240 99.99 1
    TMEM67 99.69 1
    TMX2 99.99 1
    ACD 99.99 1
    TRAK1 99.98 1
    TRAPPC12 99.96 1
    TRAPPC4 100.00 1
    TRIT1 99.25 1
    TRPC3 99.97 1
    TSEN2 99.98 1
    TSEN54 100.00 1
    TTBK2 99.93 1
    TTC19 99.99 1
    TTPA 99.88 1
    TUBA1A 99.97 1
    TUBB4A 100.00 1
    TUBG1 99.95 1
    TWNK 100.00 1
    UBA5 99.95 1
    UBAP1 99.51 1
    UBTF 99.99 1
    UCHL1 99.99 1
    UFC1 99.35 1
    UFM1 99.25 1
    UGP2 99.85 1
    USP8 99.67 1
    VAMP1 100.00 1
    VCP 99.99 1
    VLDLR 99.99 1
    VPS13B 99.90 1
    VPS13D 99.96 1
    VPS37A 99.96 1
    VRK1 99.98 1
    VWA3B 98.82 1
    WARS2 97.72 1
    WASHC5 99.98 1
    WDR45B 100.00 1
    WDR48 99.42 1
    WDR73 99.92 1
    WDR81 100.00 1
    WWOX 100.00 1
    XRCC1 99.96 1
    ZC4H2 99.98 1
    ZFR 99.94 1
    ZFYVE26 100.00 1
    ZFYVE27 99.99 1
  • 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
  • Hereditary Spastic Paraplegia (94 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCD1 95.00 0 interpretable range CS1>95%
    ADAR 95.00 0 interpretable range CS1>95%
    AFG3L2 95.00 0 interpretable range CS1>95%
    AIMP1 95.00 0 interpretable range CS1>95%
    ALDH18A1 95.00 0 interpretable range CS1>95%
    ALDH3A2 95.00 0 interpretable range CS1>95%
    ALS2 95.00 0 interpretable range CS1>95%
    AMPD2 95.00 0 interpretable range CS1>95%
    AP4B1 95.00 0 interpretable range CS1>95%
    AP4E1 95.00 0 interpretable range CS1>95%
    AP4M1 95.00 0 interpretable range CS1>95%
    AP4S1 95.00 0 interpretable range CS1>95%
    AP5Z1 95.00 0 interpretable range CS1>95%
    ARL6IP1 95.00 0 interpretable range CS1>95%
    ARSI 95.00 0 interpretable range CS1>95%
    ATL1 95.00 0 interpretable range CS1>95%
    ATP13A2 95.00 0 interpretable range CS1>95%
    B4GALNT1 95.00 0 interpretable range CS1>95%
    BICD2 95.00 0 interpretable range CS1>95%
    BSCL2 95.00 0 interpretable range CS1>95%
    MTRFR 95.00 0 interpretable range CS1>95%
    C19ORF12 95.00 0 interpretable range CS1>95%
    CAPN1 95.00 0 interpretable range CS1>95%
    CCT5 95.00 0 interpretable range CS1>95%
    CPT1C 95.00 0 interpretable range CS1>95%
    CYP27A1 95.00 0 interpretable range CS1>95%
    CYP2U1 95.00 0 interpretable range CS1>95%
    CYP7B1 95.00 0 interpretable range CS1>95%
    DARS1 95.00 0 interpretable range CS1>95%
    DDHD1 95.00 0 interpretable range CS1>95%
    DDHD2 95.00 0 interpretable range CS1>95%
    DSTYK 95.00 0 interpretable range CS1>95%
    ENTPD1 95.00 0 interpretable range CS1>95%
    ERLIN1 95.00 0 interpretable range CS1>95%
    ERLIN2 95.00 0 interpretable range CS1>95%
    FA2H 95.00 0 interpretable range CS1>95%
    FARS2 95.00 0 interpretable range CS1>95%
    FLRT1 95.00 0 interpretable range CS1>95%
    GBA2 95.00 0 interpretable range CS1>95%
    GCH1 95.00 0 interpretable range CS1>95%
    GJC2 95.00 0 interpretable range CS1>95%
    HACE1 95.00 0 interpretable range CS1>95%
    HSPD1 95.00 0 interpretable range CS1>95%
    IBA57 95.00 0 interpretable range CS1>95%
    KCNA2 95.00 0 interpretable range CS1>95%
    KDM5C 95.00 0 interpretable range CS1>95%
    KIDINS220 95.00 0 interpretable range CS1>95%
    KIF1A 95.00 0 interpretable range CS1>95%
    KIF1C 95.00 0 interpretable range CS1>95%
    KIF5A 95.00 0 interpretable range CS1>95%
    KLC2 95.00 0 interpretable range CS1>95%
    L1CAM 95.00 0 interpretable range CS1>95%
    ERCC2 95.00 0 interpretable range CS1>95%
    MARS1 95.00 0 interpretable range CS1>95%
    MARS2 95.00 0 interpretable range CS1>95%
    MTPAP 95.00 0 interpretable range CS1>95%
    NIPA1 95.00 0 interpretable range CS1>95%
    NKX6-2 95.00 0 interpretable range CS1>95%
    NT5C2 95.00 0 interpretable range CS1>95%
    OPA3 95.00 0 interpretable range CS1>95%
    PCYT2 95.00 0 interpretable range CS1>95%
    PGAP1 95.00 0 interpretable range CS1>95%
    PLP1 95.00 0 interpretable range CS1>95%
    PNPLA6 95.00 0 interpretable range CS1>95%
    POLR3A 95.00 0 interpretable range CS1>95%
    RAB3GAP2 95.00 0 interpretable range CS1>95%
    REEP1 95.00 0 interpretable range CS1>95%
    REEP2 95.00 0 interpretable range CS1>95%
    RNASEH2B 95.00 0 interpretable range CS1>95%
    RTN2 95.00 0 interpretable range CS1>95%
    SACS 95.00 0 interpretable range CS1>95%
    SERAC1 95.00 0 interpretable range CS1>95%
    SLC16A2 95.00 0 interpretable range CS1>95%
    SLC1A4 95.00 0 interpretable range CS1>95%
    SLC2A1 95.00 0 interpretable range CS1>95%
    SLC33A1 95.00 0 interpretable range CS1>95%
    SPART 95.00 0 interpretable range CS1>95%
    SPAST 95.00 0 interpretable range CS1>95%
    SPG11 95.00 0 interpretable range CS1>95%
    SPG21 95.00 0 interpretable range CS1>95%
    SPG7 95.00 0 interpretable range CS1>95%
    TECPR2 95.00 0 interpretable range CS1>95%
    TFG 95.00 0 interpretable range CS1>95%
    TUBB4A 95.00 0 interpretable range CS1>95%
    UBAP1 95.00 0 interpretable range CS1>95%
    UCHL1 95.00 0 interpretable range CS1>95%
    USP8 95.00 0 interpretable range CS1>95%
    VAMP1 95.00 0 interpretable range CS1>95%
    VPS37A 95.00 0 interpretable range CS1>95%
    WASHC5 95.00 0 interpretable range CS1>95%
    WDR48 95.00 0 interpretable range CS1>95%
    ZFR 95.00 0 interpretable range CS1>95%
    ZFYVE26 95.00 0 interpretable range CS1>95%
    ZFYVE27 95.00 0 interpretable range CS1>95%
    BRAF 95.00 0 interpretable range CS1>95%
    CBL 95.00 0 interpretable range CS1>95%
    HRAS 95.00 0 interpretable range CS1>95%
    KRAS 95.00 0 interpretable range CS1>95%
    MAP2K1 95.00 0 interpretable range CS1>95%
    MAP2K2 95.00 0 interpretable range CS1>95%
    NRAS 95.00 0 interpretable range CS1>95%
    PTPN11 95.00 0 interpretable range CS1>95%
    RAF1 95.00 0 interpretable range CS1>95%
    SHOC2 95.00 0 interpretable range CS1>95%
    SOS1 95.00 0 interpretable range CS1>95%
    RIT1 95.00 0 interpretable range CS1>95%
  • Hereditary spastic paraplegia (188 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCD1 97.56 1
    ABHD12 88.30 1
    ADAR 100.00 1
    AFG3L2 94.80 1
    AIMP1 99.97 1
    ALDH18A1 100.00 1
    ALDH3A2 99.94 1
    ALS2 100.00 1
    AMPD2 99.90 1
    ANG 100.00 1
    AP4B1 100.00 1
    AP4E1 99.99 1
    AP4M1 100.00 1
    AP4S1 100.00 1
    AP5Z1 99.25 1
    ARG1 100.00 1
    ARL6IP1 100.00 1
    ARSI 99.82 1
    ASPA 100.00 1
    ATAD3A 97.50 1
    ATL1 99.89 1
    ATP13A2 98.30 1
    AUH 99.24 1
    B4GALNT1 99.99 1
    BICD2 100.00 1
    BSCL2 100.00 1
    BTD 100.00 1
    MTRFR 100.00 1
    C19ORF12 100.00 1
    CAPN1 99.97 1
    CCT5 99.92 1
    CDK16 99.96 1
    CLN8 100.00 1
    COASY 100.00 1
    CPT1C 100.00 1
    CSF1R 99.99 1
    CTNNB1 100.00 1
    CYP27A1 99.38 1
    CYP2U1 93.20 1
    CYP7B1 100.00 1
    DARS1 100.00 1
    DARS2 100.00 1
    DDHD1 99.58 1
    DDHD2 100.00 1
    DSTYK 100.00 1
    ELOVL4 100.00 1
    ENTPD1 100.00 1
    ERCC2 98.91 1
    ERLIN1 100.00 1
    ERLIN2 100.00 1
    EXOSC3 100.00 1
    FA2H 95.71 1
    HYCC1 100.00 1
    RETREG1 100.00 1
    FARS2 100.00 1
    FBXO7 99.78 1
    FIG4 100.00 1
    FLRT1 100.00 1
    FRMD7 99.98 1
    FUS 100.00 1
    FXN 100.00 1
    GAD1 100.00 1
    GALC 98.98 1
    GAN 98.52 1
    GARS1 97.89 1
    GART 99.99 1
    GBA1 100.00 1
    GBA2 100.00 1
    GBE1 100.00 1
    GCH1 99.71 1
    GFAP 100.00 1
    GJA1 100.00 1
    GJC2 96.72 1
    GLB1 100.00 1
    GLRX5 100.00 1
    GLTP 100.00 1
    GPR143 89.09 1
    GSN 97.80 1
    HACE1 98.41 1
    HEPACAM 99.85 1
    HEXA 100.00 1
    HSD17B4 100.00 1
    HSPD1 100.00 1
    IBA57 92.01 1
    IFIH1 100.00 1
    IRF2BPL 97.56 1
    KCNJ6 100.00 1
    KCNMA1 99.93 1
    KDM5C 99.97 1
    WASHC5 100.00 1
    NEXMIF 100.00 1
    KIDINS220 100.00 1
    KIF1A 98.74 1
    KIF1C 100.00 1
    KIF5A 100.00 1
    KLC2 100.00 1
    KLC4 99.99 1
    L1CAM 99.98 1
    L2HGDH 99.75 1
    LAMB1 100.00 1
    LYST 100.00 1
    MARS1 100.00 1
    MARS2 100.00 1
    MFN2 100.00 1
    MLC1 98.57 1
    MTPAP 99.98 1
    NANS 100.00 1
    NEFL 100.00 1
    NIPA1 92.99 1
    NKX6-2 100.00 1
    NT5C2 100.00 1
    OCLN 100.00 1
    MED12 99.98 1
    OPA3 100.00 1
    OPTN 100.00 1
    PANK2 100.00 1
    PDYN 100.00 1
    PGAP1 100.00 1
    PLA2G6 100.00 1
    PLP1 100.00 1
    PNPLA6 99.95 1
    POLR3A 100.00 1
    POLR3B 100.00 1
    PPP2R2B 100.00 1
    PRUNE1 100.00 1
    PSEN1 100.00 1
    PUM1 100.00 1
    RAB18 99.99 1
    RAB3GAP1 100.00 1
    RAB3GAP2 100.00 1
    RARS1 99.99 1
    REEP1 100.00 1
    REEP2 97.04 1
    RNASEH2A 100.00 1
    RNASEH2B 94.58 1
    RNASEH2C 100.00 1
    RNASET2 100.00 1
    RTN2 99.44 1
    SACS 99.95 1
    SAMD9L 100.00 1
    SAMHD1 100.00 1
    SERAC1 100.00 1
    SETX 100.00 1
    SIL1 99.95 1
    SLC16A2 99.97 1
    SLC25A15 100.00 1
    SLC25A46 100.00 1
    SLC2A1 100.00 1
    SLC33A1 100.00 1
    SLC39A14 99.94 1
    SMPD1 100.00 1
    SOD1 100.00 1
    SOX10 100.00 1
    SPAST 99.83 1
    SPG11 100.00 1
    SPART 100.00 1
    SPG21 100.00 1
    SPG7 95.78 1
    SPR 99.98 1
    SUN1 100.00 1
    SYNE1 100.00 1
    TANGO2 99.94 1
    TARDBP 99.43 1
    TBC1D20 95.06 1
    TECPR2 99.92 1
    TFG 99.98 1
    TGM6 100.00 1
    TH 98.79 1
    TRPV4 100.00 1
    TTBK2 100.00 1
    TUBB4A 100.00 1
    TUBG1 100.00 1
    UBQLN2 99.30 1
    UCHL1 99.66 1
    USP8 100.00 1
    VAMP1 100.00 1
    VAPB 99.77 1
    VCP 97.10 1
    VPS13B 100.00 1
    VPS37A 99.28 1
    WDR45 100.00 1
    WDR45B 99.94 1
    WDR48 100.00 1
    ZC4H2 100.00 1
    ZFR 100.00 1
    ZFYVE26 100.00 1
    ZFYVE27 100.00 1
  • Movement Disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 99.99 1
    ACTB 100.00 1
    ACTL6B 99.90 1
    ADAR 99.84 1
    ADCY5 99.98 1
    ADH1C 99.94 1
    AFG3L2 99.97 1
    ALDH5A1 96.19 1
    ANO3 99.98 1
    AP3D1 100.00 1
    AP4M1 99.98 1
    APTX 99.92 1
    ARSA 99.99 1
    ARV1 99.85 1
    ARX 95.36 1
    ATM 99.83 1
    ATP13A2 99.96 1
    ATP1A3 99.98 1
    ATP6AP2 99.55 1
    ATP7B 100.00 1
    ATP8A2 100.00 1
    ATXN2 99.88 1
    AUH 99.95 1
    BCAP31 99.95 1
    BCS1L 99.99 1
    C19ORF12 99.99 1
    CACNA1A 99.98 1
    CACNA1B 100.00 1
    CACNA1E 99.82 1
    CARS2 99.99 1
    CHCHD2 99.89 1
    CHMP2B 99.80 1
    CHRNA4 100.00 1
    CHRNB2 99.99 1
    CIZ1 99.94 1
    CLPB 99.97 1
    CNTNAP1 99.98 1
    COASY 99.98 1
    COL6A3 99.99 1
    COQ9 99.62 1
    COX10 99.99 1
    COX15 100.00 1
    CP 99.95 1
    CRAT 99.99 1
    CSF1R 99.92 1
    CTC1 100.00 1
    CYP27A1 100.00 1
    DCAF17 99.84 1
    DCTN1 99.98 1
    DDC 99.67 1
    DEGS1 99.99 1
    DHDDS 98.65 1
    DHX30 99.96 1
    DLAT 99.65 1
    DLD 99.89 1
    DMXL2 99.86 1
    DNAJC13 99.86 1
    DNAJC5 99.99 1
    DNAJC6 99.48 1
    DNAL4 99.89 1
    DRD3 100.00 1
    EARS2 99.96 1
    ECHS1 100.00 1
    EEF1A2 100.00 1
    EIF4G1 100.00 1
    EPRS1 99.53 1
    ETHE1 84.97 1
    FA2H 99.98 1
    FASTKD2 99.93 1
    FBXO7 99.98 1
    FITM2 99.99 1
    FOXG1 99.91 1
    FOXRED1 100.00 1
    FTL 99.99 1
    FUCA1 98.72 1
    FUS 99.93 1
    GABRB2 99.92 1
    GAMT 100.00 1
    GBA1 96.92 1
    GBE1 99.73 1
    GCDH 100.00 1
    GCH1 99.94 1
    GFAP 99.99 1
    GFM2 99.87 1
    GIGYF2 99.94 1
    GJC2 100.00 1
    GLB1 100.00 1
    GRID2 100.00 1
    GM2A 100.00 1
    GNAL 100.00 1
    GNAO1 99.86 1
    GNB1 100.00 1
    GPR88 100.00 1
    GRIN1 100.00 1
    GRIN2B 99.99 1
    GRN 100.00 1
    GSX2 100.00 1
    GTPBP2 99.98 1
    HEXA 99.99 1
    HIBCH 99.70 1
    HPRT1 97.80 1
    HSD17B10 99.98 1
    HTRA2 99.99 1
    HTT 99.98 1
    IFIH1 99.84 1
    IREB2 99.90 1
    IRF2BPL 99.21 1
    JAM2 91.82 1
    JPH3 100.00 1
    KCNA4 100.00 1
    KCNMA1 99.89 1
    KCNQ2 100.00 1
    KCTD17 100.00 1
    KMT2B 99.99 1
    LIPT1 99.89 1
    LIPT2 99.99 1
    LRP10 99.99 1
    LRPPRC 99.80 1
    LRRK2 99.44 1
    LYST 99.87 1
    MAPT 99.80 1
    MAT1A 99.70 1
    MCOLN1 100.00 1
    MDH2 99.54 1
    MECP2 99.95 1
    MECR 99.63 1
    MED20 99.99 1
    MICU1 99.56 1
    MMADHC 99.76 1
    MPV17 99.98 1
    MRE11 99.93 1
    MRPS34 100.00 1
    MYBPC1 99.77 1
    MYORG 99.99 1
    NAXD 99.99 1
    NDUFA1 99.93 1
    NDUFA10 99.98 1
    NDUFA12 99.21 1
    NDUFA9 100.00 1
    NDUFAF4 99.95 1
    NDUFAF6 99.86 1
    NDUFS1 99.79 1
    NDUFS3 100.00 1
    NDUFS7 99.99 1
    NDUFS8 100.00 1
    NHLRC2 99.83 1
    NKX2-1 100.00 1
    NKX6-2 100.00 1
    NPC1 99.99 1
    NPC2 100.00 1
    NTNG2 99.98 1
    NUP62 100.00 1
    PANK2 99.99 1
    PARK7 99.93 1
    PCCA 99.90 1
    PCCB 99.97 1
    PCDH12 100.00 1
    PCDH19 99.98 1
    PDE10A 87.37 1
    PDE8B 99.98 1
    PDGFB 99.99 1
    PDGFRB 99.99 1
    PDHA1 99.04 1
    PDHX 99.64 1
    PEAR1 99.89 1
    PEX16 99.94 1
    PINK1 99.69 1
    PLA2G6 99.98 1
    PLEKHG2 99.99 1
    PLP1 99.98 1
    PMPCB 99.94 1
    PNKD 100.00 1
    PNKP 100.00 1
    PNPLA8 99.92 1
    PNPT1 99.56 1
    PODXL 93.29 1
    POLG 100.00 1
    POLR3A 99.97 1
    PON1 99.70 1
    PRKN 99.99 1
    PRKRA 99.94 1
    PRNP 100.00 1
    PRRT2 99.97 1
    PTRHD1 100.00 1
    PTS 99.93 1
    QDPR 99.92 1
    RAB11B 100.00 1
    RAB39B 99.99 1
    RAD51 90.17 1
    RELN 99.98 1
    REPS1 99.93 1
    RHOBTB2 100.00 1
    RIC3 100.00 1
    RNF216 99.99 1
    SCN11A 99.94 1
    SCN4A 99.98 1
    SCN8A 99.77 1
    SCP2 94.94 1
    SDHA 99.98 1
    SDHAF1 99.99 1
    SDHD 82.93 1
    SEPSECS 99.78 1
    SERAC1 99.90 1
    SETX 99.97 1
    SGCE 93.12 1
    SLC18A2 100.00 1
    SLC19A3 99.95 1
    SLC20A2 99.95 1
    SLC25A42 99.99 1
    SLC2A1 99.93 1
    SLC30A10 99.99 1
    SLC30A9 99.75 1
    SLC39A14 92.87 1
    SLC44A1 99.90 1
    SLC6A3 99.96 1
    SLC6A8 99.99 1
    SMPD1 100.00 1
    SNCA 99.97 1
    SNCAIP 99.99 1
    SPG11 99.89 1
    SPR 99.99 1
    SQSTM1 100.00 1
    STUB1 99.99 1
    SUCLA2 99.96 1
    SUOX 100.00 1
    SURF1 100.00 1
    SYNJ1 99.91 1
    SYT1 99.70 1
    TAF1 99.84 1
    TANGO2 99.85 1
    TBC1D24 100.00 1
    TENM4 99.99 1
    TH 99.99 1
    THAP1 99.96 1
    TIMM8A 100.00 1
    TOR1A 100.00 1
    TPI1 99.95 1
    TPK1 99.96 1
    TRAK1 99.98 1
    TRAPPC11 99.93 1
    TRAPPC12 99.96 1
    TRIT1 99.25 1
    TSEN2 99.98 1
    TSFM 100.00 1
    TUBB4A 100.00 1
    TXN2 99.88 1
    UBA5 99.95 1
    UBTF 99.99 1
    UCHL1 99.99 1
    UFM1 99.25 1
    UGDH 99.77 1
    UQCRQ 99.96 1
    VAC14 99.91 1
    VAMP2 100.00 1
    VCP 99.99 1
    VPS13A 99.68 1
    VPS13C 99.65 1
    VPS13D 99.96 1
    VPS16 100.00 1
    VPS35 99.83 1
    WARS2 97.72 1
    WDR45 99.99 1
    WDR73 99.92 1
    XK 99.98 1
    XPR1 99.13 1
    YY1 100.00 1
    ZC4H2 99.98 1
    ZNF142 100.00 1
  • Neurodegeneration (99 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    APP 100.00 1 NM_000484.4
    ATP13A2 100.00 1 NM_022089.4
    CHMP2B 100.00 1 NM_014043.4
    DCTN1 100.00 1 NM_004082.4
    ERBB4 100.00 1 NM_005235.3
    FIG4 100.00 1 NM_014845.6
    FUS 100.00 1 NM_004960.4
    GBA1 100.00 1 NM_000157.4
    GRN 100.00 1 NM_002087.3
    KIF5A 100.00 1 NM_004984.4
    LRRK2 100.00 1 NM_198578.4
    MAPT 100.00 1 NM_001123066.3
    MATR3 100.00 1 NM_018834.6
    NEFH 100.00 1 NM_021076.4
    NEK1 100.00 1 NM_001199397.3
    NOTCH3 100.00 1 NM_000435.3
    OPTN 100.00 1 NM_001008212.2
    PARK7 100.00 1 NM_007262.5
    PFN1 100.00 1 NM_005022.4
    PINK1 100.00 1 NM_032409.3
    PRKN 100.00 1 NM_004562.3
    PRNP 100.00 1 NM_000311.5
    PRPH 100.00 1 NM_006262.4
    PSEN1 100.00 1 NM_000021.4
    PSEN2 100.00 1 NM_000447.3
    SETX 100.00 1 NM_015046.7
    SIGMAR1 100.00 1 NM_005866.4
    SNCA 100.00 1 NM_000345.4
    SOD1 100.00 1 NM_000454.5
    SPG11 100.00 1 NM_025137.4
    TARDBP 100.00 1 NM_007375.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    VCP 100.00 1 NM_007126.5
    AARS2 100.00 1 NM_020745.4
    ABAT 100.00 1 NM_020686.6
    ABCB7 100.00 1 NM_001271696.3
    ABCD1 100.00 1 NM_000033.4
    ADPRS 100.00 1 NM_017825.3
    AFG3L2 100.00 1 NM_006796.3
    AP5Z1 100.00 1 NM_014855.3
    APOE 100.00 1 NM_000041.4
    ARSA 100.00 1 NM_000487.6
    ATP1A3 100.00 1 NM_152296.5
    ATP6AP2 100.00 1 NM_005765.3
    C19ORF12 100.00 1 NM_031448.6
    C9ORF72 100.00 1 NM_018325.5
    CCNF 100.00 1 NM_001761.3
    CHCHD10 100.00 1 NM_213720.3
    CHCHD2 100.00 1 NM_016139.4
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLN8 100.00 1 NM_018941.4
    COA7 100.00 1 NM_023077.3
    COASY 100.00 1 NM_025233.7
    CRAT 100.00 1 NM_000755.5
    CSF1R 100.00 1 NM_005211.3
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    DNAJC13 100.00 1 NM_015268.4
    DNAJC5 100.00 1 NM_025219.3
    DNAJC6 100.00 1 NM_001256864.2
    EIF4G1 100.00 1 NM_198241.3
    FA2H 100.00 1 NM_024306.5
    FBXO7 100.00 1 NM_012179.4
    FTL 100.00 1 NM_000146.4
    FXN 100.00 1 NM_000144.5
    GCH1 100.00 1 NM_000161.3
    GIGYF2 100.00 1 NM_001103146.3
    GLUD2 100.00 1 NM_012084.4
    GRID2 100.00 1 NM_001510.4
    IREB2 100.00 1 NM_004136.4
    ITM2B 100.00 1 NM_021999.5
    KLC4 100.00 1 NM_201521.3
    MFSD8 100.00 1 NM_001371596.2
    NPC1 100.00 1 NM_000271.5
    NPC2 100.00 1 NM_006432.5
    PANK2 100.00 1 NM_153638.3
    PGAP1 100.00 1 NM_024989.4
    PLA2G6 100.00 1 NM_003560.4
    PODXL 94.00 1 NM_001018111.3
    POLG 100.00 1 NM_001126131.2
    PPT1 100.00 1 NM_000310.4
    RAB18 100.00 1 NM_021252.5
    REPS1 100.00 1 NM_001286611.1
    SLC6A3 100.00 1 NM_001044.5
    SPG21 100.00 1 NM_016630.7
    SQSTM1 100.00 1 NM_003900.5
    SYNJ1 100.00 1 NM_003895.3
    TBK1 100.00 1 NM_013254.4
    UBTF 100.00 1 NM_014233.4
    UCHL1 100.00 1 NM_004181.5
    VPS13C 100.00 1 NM_020821.3
    VPS35 100.00 1 NM_018206.6
    WDR45 100.00 1 NM_001029896.2
  • Neuropathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 99.94 1
    ABCA1 99.92 1
    ABHD12 99.11 1
    ADPRS 100.00 1
    AGTPBP1 99.40 1
    AIFM1 99.43 1
    ARHGEF10 100.00 1
    ARSA 100.00 1
    ATL1 99.95 1
    ATL3 99.86 1
    ATM 99.83 1
    ATP1A1 99.94 1
    ATP7A 99.35 1
    B4GALNT1 99.95 1
    BAG3 100.00 1
    BICD2 100.00 1
    BSCL2 100.00 1
    CADM3 99.94 1
    CD59 99.97 1
    CFAP276 99.73 1
    CHCHD10 97.06 1
    CLTCL1 99.98 1
    CNTNAP1 99.80 1
    COA7 100.00 1
    COX20 99.40 1
    COX6A1 99.99 1
    CTDP1 98.02 1
    CTNNB1 99.98 1
    CYP27A1 99.96 1
    DARS2 99.86 1
    DCAF8 99.98 1
    DCTN1 99.95 1
    DGAT2 99.99 1
    DGUOK 99.76 1
    DHTKD1 99.88 1
    DNAJB2 100.00 1
    DNAJC3 99.58 1
    DNM2 99.96 1
    DNMT1 99.88 1
    DRP2 99.45 1
    DST 99.92 1
    DYNC1H1 99.97 1
    EGR2 100.00 1
    ELP1 99.96 1
    ETFDH 99.76 1
    FBLN5 92.79 1
    FBXO38 99.93 1
    FGD4 99.89 1
    FIG4 99.94 1
    FLVCR1 99.93 1
    FXN 97.92 1
    GALC 99.88 1
    GAN 99.84 1
    GARS1 99.86 1
    GBA2 99.97 1
    GBE1 99.84 1
    GBF1 99.95 1
    GDAP1 99.93 1
    GJB1 99.99 1
    GJB3 100.00 1
    GJC2 96.12 1
    GLA 99.64 1
    GNB4 99.95 1
    GSN 97.83 1
    HADHA 99.96 1
    HADHB 99.97 1
    HARS1 99.99 1
    HINT1 99.96 1
    HK1 96.86 1
    HNRNPA1 100.00 1
    HOXD10 100.00 1
    HSPB1 99.83 1
    HSPB3 100.00 1
    HSPB8 99.90 1
    IARS2 99.96 1
    IFRD1 99.96 1
    IGHMBP2 99.99 1
    INF2 97.15 1
    ITPR3 99.88 1
    JAG1 99.92 1
    KIF1A 99.96 1
    KIF5A 99.93 1
    LITAF 100.00 1
    LMNA 99.98 1
    LRSAM1 99.97 1
    LYST 99.92 1
    MCM3AP 99.96 1
    MFN2 99.96 1
    MMACHC 99.99 1
    MME 97.69 1
    MORC2 99.98 1
    MPV17 100.00 1
    MPZ 99.97 1
    MTMR2 99.98 1
    MTRFR 99.85 1
    MYH14 99.79 1
    NAGA 99.99 1
    NAGLU 98.00 1
    NARS1 99.74 1
    NDRG1 100.00 1
    NEFH 98.77 1
    NEFL 99.99 1
    NGF 99.99 1
    NTRK1 99.67 1
    PCYT2 97.60 1
    PDK3 98.86 1
    PEX7 99.87 1
    PHYH 99.65 1
    PIEZO2 99.88 1
    PLD3 99.99 1
    PLEKHG5 99.66 1
    PLP1 99.93 1
    PMM2 99.94 1
    PMP2 99.95 1
    PMP22 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    POLG 99.98 1
    POLR3B 99.88 1
    PPOX 99.94 1
    PRDM12 99.60 1
    PRKCG 99.90 1
    PRNP 100.00 1
    PRPS1 99.79 1
    PRX 99.94 1
    PTEN 99.15 1
    PTPN11 99.91 1
    PTRH2 99.97 1
    RAB7A 99.94 1
    REEP1 99.99 1
    RETREG1 99.92 1
    RFC1 99.44 1
    SACS 99.98 1
    SBF1 99.97 1
    SBF2 99.92 1
    SCARB2 99.94 1
    SCN10A 99.97 1
    SCN11A 99.77 1
    SCN9A 99.96 1
    SCO2 100.00 1
    SCYL1 99.64 1
    SEPTIN9 99.94 1
    SETX 99.96 1
    SH3TC2 99.98 1
    SIGMAR1 99.99 1
    SLC12A6 99.88 1
    SLC25A19 99.99 1
    SLC25A46 99.93 1
    SLC52A2 100.00 1
    SLC52A3 100.00 1
    SLC5A7 99.97 1
    SORD 92.86 1
    SOX10 100.00 1
    SPAST 99.83 1
    SPG11 99.94 1
    SPG7 99.99 1
    SPTAN1 99.97 1
    SPTBN4 99.19 1
    SPTLC1 99.98 1
    SPTLC2 99.94 1
    SPTLC3 99.94 1
    SURF1 97.64 1
    SYT2 99.89 1
    TBCE 99.69 1
    TBCK 99.76 1
    TECPR2 99.90 1
    TFG 99.34 1
    TRIM2 99.99 1
    TRPV4 99.96 1
    TTPA 99.97 1
    TTR 100.00 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UCHL1 99.99 1
    VAPB 99.94 1
    VCP 99.92 1
    VPS13A 99.60 1
    VRK1 99.94 1
    VWA1 91.35 1
    WARS1 99.79 1
    WNK1 99.94 1
    XRCC1 99.94 1
    YARS1 99.96 1
    ZFHX2 99.98 1
    ZFYVE26 99.96 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