1. Analytes
  2. REPS1

REPS1

Analyte Export to PDF
Name:
RALBP1 associated Eps domain containing 1
Symbol:
REPS1
XREF(s):
OMIM
HGNC
Created:
19 Jun 2019 - 18:38
Changed:
19 Jun 2019 - 18:38
  • 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
  • Movement Disorders - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0
    ABAT 100.00 0
    ACTB 100.00 0
    ACTL6B 100.00 0
    ADAR 100.00 0
    ADCY5 94.82 0
    ADPRS 97.19 0
    AFG3L2 95.73 0
    AGTPBP1 97.48 0
    AIMP1 100.00 0
    ALDH5A1 91.82 0
    ALG13 99.52 0
    ALG6 100.00 0
    ALS2 100.00 0
    AMT 100.00 0
    ANO3 99.99 0
    AOPEP 98.17 0
    AP3D1 100.00 0
    AP4M1 100.00 0
    AP5Z1 100.00 0
    APTX 100.00 0
    ARG1 100.00 0
    ARHGEF9 100.00 0
    ARSA 100.00 0
    ARV1 100.00 0
    ARX 76.27 0
    ASAH1 100.00 0
    ASNS 100.00 0
    ASS1 100.00 0
    ATAD1 100.00 0
    ATCAY 100.00 0
    ATM 100.00 0
    ATN1 100.00 0
    ATP13A2 99.13 0
    ATP1A2 99.91 0
    ATP1A3 100.00 0
    ATP6AP2 98.93 0
    ATP7B 100.00 0
    ATP8A2 100.00 0
    ATXN2 97.08 0
    AUH 98.84 0
    BCAP31 100.00 0
    BCKDHA 100.00 0
    BCKDHB 100.00 0
    BCS1L 100.00 0
    BSCL2 100.00 0
    BTK 100.00 0
    C19ORF12 100.00 0
    C9ORF72 100.00 0
    CA8 100.00 0
    CACNA1A 100.00 0
    CACNA1B 95.99 0
    CACNA1E 99.97 0
    CACNA1G 100.00 0
    CACNB4 100.00 0
    CARS2 95.22 0
    CBS 100.00 0
    CDKL5 99.33 0
    CEP290 99.99 0
    CHCHD2 100.00 0
    CHMP2B 100.00 0
    CHRNA2 99.97 0
    CHRNA4 99.98 0
    CHRNB2 100.00 0
    CIZ1 99.96 0
    CLCN2 100.00 0
    CLCN3 100.00 0
    CLCN6 100.00 0
    CLPB 100.00 0
    CLTC 100.00 0
    CNTNAP1 100.00 0
    COASY 100.00 0
    COL6A3 100.00 0
    COQ8A 100.00 0
    COQ9 100.00 0
    COX10 100.00 0
    COX15 100.00 0
    COX20 100.00 0
    CP 99.98 0
    CRAT 100.00 0
    CRH 100.00 0
    CRLF1 89.13 0
    CSF1R 100.00 0
    CSTB 100.00 0
    CTC1 100.00 0
    CTDP1 90.20 0
    CTNNB1 100.00 0
    CTSA 100.00 0
    CTSD 100.00 0
    CTSF 89.18 0
    CUL4B 98.64 0
    CWF19L1 100.00 0
    CYB5R3 95.77 0
    CYFIP2 100.00 0
    CYP27A1 99.38 0
    DARS1 100.00 0
    DBT 100.00 0
    DCAF17 99.11 0
    DCC 100.00 0
    DCTN1 100.00 0
    DDC 100.00 0
    DEGS1 100.00 0
    DEPDC5 100.00 0
    DHDDS 100.00 0
    DHX30 100.00 0
    DLAT 100.00 0
    DLD 100.00 0
    DMXL2 99.99 0
    DNAJB2 100.00 0
    DNAJC12 100.00 0
    DNAJC13 100.00 0
    DNAJC19 100.00 0
    DNAJC5 100.00 0
    DNAJC6 100.00 0
    DNAL4 100.00 0
    DNM1L 100.00 0
    DNMT1 99.83 0
    EARS2 100.00 0
    ECHS1 100.00 0
    EEF1A2 98.47 0
    ELOVL4 100.00 0
    EPRS1 100.00 0
    ETHE1 100.00 0
    FA2H 92.84 0
    FARS2 100.00 0
    FASTKD2 100.00 0
    FBXL4 100.00 0
    FBXO7 100.00 0
    FGF14 100.00 0
    FITM2 100.00 0
    FOLR1 100.00 0
    FOXG1 87.63 0
    FOXRED1 100.00 0
    FRRS1L 87.33 0
    FTL 100.00 0
    FUCA1 99.67 0
    FUS 100.00 0
    FXN 96.07 0
    GABRA2 100.00 0
    GABRB2 100.00 0
    GALT 100.00 0
    GAMT 98.07 0
    GBA1 100.00 0
    GBE1 100.00 0
    GCDH 100.00 0
    GCH1 98.16 0
    GFAP 100.00 0
    GFM1 100.00 0
    GFM2 99.99 0
    GJC2 88.27 0
    GLB1 100.00 0
    GLDC 97.21 0
    GLRA1 100.00 0
    GLRB 100.00 0
    GM2A 100.00 0
    GNAL 100.00 0
    GNAO1 100.00 0
    GNB1 100.00 0
    GOSR2 100.00 0
    GPHN 100.00 0
    GPR88 77.04 0
    GRID2 100.00 0
    GRIN1 100.00 0
    GRIN2B 100.00 0
    GRN 100.00 0
    GSX2 100.00 0
    GTPBP2 99.48 0
    HECW2 100.00 0
    HEXA 100.00 0
    HEXB 99.87 0
    HIBCH 100.00 0
    HPRT1 97.15 0
    HSD17B10 100.00 0
    HTT 99.18 0
    IFIH1 100.00 0
    IREB2 100.00 0
    IRF2BPL 99.88 0
    IVD 100.00 0
    JAM2 100.00 0
    JPH3 100.00 0
    KCNA1 100.00 0
    KCNA2 100.00 0
    KCNA4 100.00 0
    KCNC3 78.67 0
    KCND3 100.00 0
    KCNMA1 100.00 0
    KCNQ2 100.00 0
    KCNT1 99.92 0
    KCTD17 95.63 0
    KCTD7 99.64 0
    KIF1C 100.00 0
    KIF5A 100.00 0
    KMT2B 96.75 0
    L2HGDH 100.00 0
    LIAS 100.00 0
    LIPT1 100.00 0
    LIPT2 92.08 0
    LMNB1 98.51 0
    LRPPRC 100.00 0
    LRRK2 100.00 0
    LYST 100.00 0
    MAPT 100.00 0
    MARS2 100.00 0
    MCEE 100.00 0
    MCOLN1 98.10 0
    MDH2 100.00 0
    MECP2 100.00 0
    MECR 100.00 0
    MED20 100.00 0
    MEF2C 100.00 0
    MFSD8 100.00 0
    MICU1 100.00 0
    MMAA 100.00 0
    MMAB 100.00 0
    MMADHC 100.00 0
    MMUT 100.00 0
    MPV17 100.00 0
    MRE11 100.00 0
    MRPS34 99.28 0
    MTHFR 100.00 0
    MTR 100.00 0
    MTRFR 100.00 0
    MTRR 100.00 0
    MYBPC1 100.00 0
    MYORG 100.00 0
    NALCN 100.00 0
    NAXD 100.00 0
    NDUFA1 100.00 0
    NDUFA10 99.52 0
    NDUFA12 100.00 0
    NDUFA2 100.00 0
    NDUFA9 100.00 0
    NDUFAF2 100.00 0
    NDUFAF4 100.00 0
    NDUFAF5 100.00 0
    NDUFAF6 95.34 0
    NDUFS1 100.00 0
    NDUFS3 100.00 0
    NDUFS4 100.00 0
    NDUFS7 100.00 0
    NDUFS8 100.00 0
    NDUFV1 100.00 0
    NEU1 100.00 0
    NGLY1 100.00 0
    NHLRC2 100.00 0
    NKX2-1 89.99 0
    NKX6-2 70.62 0
    NPC1 100.00 0
    NPC2 100.00 0
    NTN1 94.10 0
    NTNG2 91.87 0
    NUP62 100.00 0
    MED12 100.00 0
    OPA3 100.00 0
    PAH 100.00 0
    PANK2 95.70 0
    PARK7 100.00 0
    PODXL 96.85 0
    PCBD1 92.74 0
    PCCA 100.00 0
    PCCB 100.00 0
    PCDH12 100.00 0
    PCDH19 100.00 0
    PDE10A 100.00 0
    PDE2A 100.00 0
    PDE8B 97.56 0
    PDGFB 100.00 0
    PDGFRB 100.00 0
    PDHA1 100.00 0
    PDHB 100.00 0
    PDHX 100.00 0
    PDYN 100.00 0
    PEX16 100.00 0
    PGK1 100.00 0
    PIGP 100.00 0
    PINK1 91.10 0
    PLA2G6 100.00 0
    PLEKHG2 100.00 0
    PLP1 100.00 0
    PMM2 100.00 0
    PMPCB 100.00 0
    PNKD 100.00 0
    PNKP 100.00 0
    PNPLA8 100.00 0
    PNPT1 100.00 0
    POLG 100.00 0
    POLR1C 100.00 0
    POLR3A 100.00 0
    PPT1 100.00 0
    PRICKLE1 100.00 0
    PRKCG 100.00 0
    PRKN 100.00 0
    PRKRA 100.00 0
    PRNP 100.00 0
    PRRT2 100.00 0
    PTRHD1 100.00 0
    PTS 100.00 0
    PUM1 100.00 0
    PURA 88.25 0
    QDPR 99.38 0
    RAB11B 100.00 0
    RAB39B 100.00 0
    RAD51 100.00 0
    RELN 100.00 0
    REPS1 100.00 0
    RHOBTB2 100.00 0
    RNF216 100.00 0
    SACS 100.00 0
    SCARB2 100.00 0
    SCN11A 99.99 0
    SCN1A 100.00 0
    SCN2A 100.00 0
    SCN4A 100.00 0
    SCN8A 100.00 0
    SCP2 100.00 0
    SCYL1 100.00 0
    SDHA 98.70 0
    SDHAF1 96.31 0
    SDHD 100.00 0
    SEPSECS 100.00 0
    SERAC1 100.00 0
    SETD5 100.00 0
    SETX 100.00 0
    SGCE 100.00 0
    SLC16A2 100.00 0
    SLC18A2 100.00 0
    SLC19A3 99.96 0
    SLC1A3 100.00 0
    SLC20A2 100.00 0
    SLC25A19 100.00 0
    SLC25A42 99.96 0
    SLC2A1 100.00 0
    SLC30A10 100.00 0
    SLC30A9 100.00 0
    SLC39A14 99.95 0
    SLC39A8 99.72 0
    SLC44A1 97.36 0
    SLC6A1 100.00 0
    SLC6A3 100.00 0
    SLC6A5 100.00 0
    SLC6A8 96.54 0
    SLC9A6 97.84 0
    SMPD1 100.00 0
    SNCA 100.00 0
    SPG11 100.00 0
    SPOP 100.00 0
    SPR 97.94 0
    SPTBN2 100.00 0
    SQSTM1 95.44 0
    SRD5A3 98.74 0
    ST3GAL5 92.43 0
    STUB1 99.46 0
    STXBP1 100.00 0
    SUCLA2 100.00 0
    SUCLG1 99.97 0
    SUMF1 100.00 0
    SUOX 100.00 0
    SURF1 92.90 0
    SYNE1 100.00 0
    SYNJ1 100.00 0
    SYT1 100.00 0
    TACO1 99.96 0
    TAF1 100.00 0
    TANGO2 100.00 0
    TARDBP 100.00 0
    TBC1D24 100.00 0
    TBK1 100.00 0
    TBL1XR1 100.00 0
    TENM4 100.00 0
    TGM6 100.00 0
    TH 100.00 0
    THAP1 100.00 0
    TIMM8A 100.00 0
    TMEM240 100.00 0
    TOR1A 100.00 0
    TPI1 100.00 0
    TPK1 100.00 0
    TRAK1 100.00 0
    TRAPPC11 100.00 0
    TRAPPC12 100.00 0
    TREM2 100.00 0
    TRIT1 100.00 0
    TSC1 100.00 0
    TSC2 100.00 0
    TSEN2 100.00 0
    TSEN54 94.95 0
    TSFM 92.64 0
    TTPA 87.42 0
    TUBB4A 100.00 0
    TXN2 100.00 0
    TYROBP 100.00 0
    UBA5 100.00 0
    UBQLN2 99.91 0
    UBR4 99.78 0
    UBTF 100.00 0
    UFM1 100.00 0
    UGDH 100.00 0
    UNC13A 99.92 0
    UQCRQ 100.00 0
    VAC14 100.00 0
    VAMP1 100.00 0
    VAMP2 100.00 0
    VCP 98.45 0
    VPS13A 100.00 0
    VPS13C 100.00 0
    VPS13D 100.00 0
    VPS16 100.00 0
    VPS35 100.00 0
    VPS41 100.00 0
    VPS4A 100.00 0
    VWA3B 100.00 0
    WARS2 100.00 0
    WDR45 100.00 0
    WDR73 100.00 0
    WDR81 100.00 0
    WWOX 100.00 0
    XK 99.86 0
    XPA 99.77 0
    XPC 100.00 0
    XPR1 100.00 0
    YY1 100.00 0
    ZC4H2 100.00 0
    ZFYVE26 100.00 0
    ZNF142 100.00 0
  • 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
  • Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AP4M1 100.00 1
    ATP13A2 100.00 1
    C19ORF12 100.00 1
    COASY 100.00 1
    CP 100.00 1
    CRAT 100.00 1
    DCAF17 100.00 1
    DDHD1 100.00 1
    FA2H 100.00 1
    FTL 100.00 1
    GTPBP2 100.00 1
    PANK2 100.00 1
    PLA2G6 100.00 1
    SCP2 100.00 1
    WDR45 100.00 1
    REPS1 100.00 1