1. Analytes
  2. HPS5

HPS5

Analyte Export to PDF
Name:
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Symbol:
HPS5
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
AIBP63
BLOC2S2
RU2
Ruby-eye protein 2 homolog
alpha-integrin-binding protein 63
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    A2ML1 100.00 0
    AAGAB 97.88 0
    ABCA12 100.00 0
    ABCB6 100.00 0
    ABCC6 99.97 0
    ABHD5 100.00 0
    ACD 100.00 0
    ADAM10 100.00 0
    ADAMTS2 95.82 0
    ADAR 100.00 0
    AIM1 100.00 0
    AKT1 100.00 0
    ALDH18A1 100.00 0
    ALDH3A2 99.94 0
    ALOX12B 100.00 0
    ALOXE3 100.00 0
    ANTXR1 100.00 0
    AP1S1 100.00 0
    AP3B1 100.00 0
    APCDD1 99.97 0
    AQP5 99.87 0
    ARHGAP31 100.00 0
    ARSL 99.95 0
    ASAH1 100.00 0
    ATM 100.00 0
    ATP2A2 100.00 0
    ATP2C1 100.00 0
    ATP6V0A2 99.98 0
    ATP6V1A 100.00 0
    ATP6V1E1 99.99 0
    ATP7A 100.00 0
    AXIN2 100.00 0
    B3GALT6 63.11 0
    B4GALT7 90.91 0
    BANF1 97.55 0
    BCS1L 100.00 0
    BLM 100.00 0
    BLOC1S3 95.69 0
    BLOC1S6 100.00 0
    BRAF 96.86 0
    LRMDA 100.00 0
    KDF1 100.00 0
    CARD14 99.96 0
    CBL 100.00 0
    CBS 99.92 0
    CD151 99.99 0
    CDH3 100.00 0
    CDK4 100.00 0
    CDKN1B 100.00 0
    CDKN2A 99.69 0
    CDSN 99.93 0
    CERS3 100.00 0
    CHST14 99.81 0
    CHST8 100.00 0
    CHUK 99.59 0
    CLCF1 100.00 0
    CLDN1 100.00 0
    CLDN10 100.00 0
    COG6 100.00 0
    COL11A1 100.00 0
    COL12A1 100.00 0
    COL17A1 100.00 0
    COL1A1 100.00 0
    COL1A2 99.41 0
    COL3A1 99.99 0
    COL5A1 98.23 0
    COL5A2 100.00 0
    COL7A1 100.00 0
    CREBBP 99.98 0
    CRLF1 89.67 0
    CSTA 100.00 0
    CTC1 99.71 0
    CTSC 100.00 0
    CYLD 100.00 0
    CYP26C1 97.30 0
    CYP4F22 99.27 0
    DDB2 100.00 0
    DIP2B 99.71 0
    DKC1 99.92 0
    DLL4 100.00 0
    DLX3 99.95 0
    DNMT1 99.69 0
    DOCK6 99.13 0
    DOLK 100.00 0
    DSC3 98.96 0
    DSE 100.00 0
    DSG1 100.00 0
    DSG2 99.89 0
    DSG4 100.00 0
    DSP 100.00 0
    DST 100.00 0
    DTNBP1 99.96 0
    GLB1 100.00 0
    ECM1 100.00 0
    EDA 99.05 0
    EDAR 100.00 0
    EDARADD 100.00 0
    EDN3 99.95 0
    EDNRB 100.00 0
    EFEMP2 100.00 0
    ELN 99.96 0
    ELOVL4 100.00 0
    ENPP1 97.25 0
    EOGT 100.00 0
    EP300 100.00 0
    EPG5 99.99 0
    ERCC2 99.35 0
    ERCC3 100.00 0
    ERCC4 99.99 0
    ERCC5 100.00 0
    ERCC6 100.00 0
    ERCC8 100.00 0
    EVC 94.53 0
    EVC2 98.69 0
    EXPH5 100.00 0
    F12 99.81 0
    FAM111B 100.00 0
    RETREG1 93.87 0
    FAM83G 100.00 0
    FBLN5 100.00 0
    FBN1 100.00 0
    FBN2 100.00 0
    FERMT1 99.96 0
    FGFR2 100.00 0
    FGFR3 99.36 0
    FH 100.00 0
    FKBP14 100.00 0
    FLCN 100.00 0
    FGFR1 100.00 0
    FLG2 100.00 0
    FOXN1 100.00 0
    FZD6 100.00 0
    GALNT3 100.00 0
    GAN 98.95 0
    GBA1 100.00 0
    GGCX 99.91 0
    GHR 99.21 0
    GJA1 100.00 0
    GJB2 100.00 0
    GJB3 100.00 0
    GJB4 100.00 0
    GJB6 100.00 0
    GLA 100.00 0
    GNAS 100.00 0
    GORAB 100.00 0
    GPR143 89.17 0
    GRHL2 100.00 0
    GSN 97.95 0
    GTF2E2 100.00 0
    GTF2H5 100.00 0
    HAMP 100.00 0
    HCCS 100.00 0
    HDAC8 99.82 0
    HFE 100.00 0
    HJV 100.00 0
    HGD 100.00 0
    HLCS 100.00 0
    HOXC13 96.56 0
    HPGD 99.87 0
    HPS1 100.00 0
    HPS3 99.99 0
    HPS4 99.99 0
    HPS5 100.00 0
    HPS6 96.32 0
    HR 99.78 0
    HRAS 100.00 0
    IFT122 99.99 0
    IFT43 100.00 0
    ELP1 100.00 0
    IKBKG 96.27 0
    IL31RA 100.00 0
    INSR 96.81 0
    ITGA3 99.99 0
    ITGA6 100.00 0
    ITGB4 98.77 0
    JUP 100.00 0
    KANK2 99.99 0
    KCNH1 100.00 0
    KCTD1 100.00 0
    KDM6A 99.63 0
    KDSR 99.98 0
    KIF1A 99.07 0
    KIT 99.98 0
    KITLG 100.00 0
    KL 96.52 0
    KLHL24 100.00 0
    KLLN 100.00 0
    KMT2D 99.99 0
    KRAS 100.00 0
    KREMEN1 92.10 0
    KRT1 99.80 0
    KRT10 99.93 0
    KRT14 100.00 0
    KRT16 99.48 0
    KRT17 92.10 0
    KRT2 100.00 0
    KRT5 100.00 0
    KRT6A 100.00 0
    KRT6B 100.00 0
    KRT6C 99.44 0
    KRT71 99.95 0
    KRT74 99.99 0
    KRT81 100.00 0
    KRT83 99.99 0
    KRT85 99.27 0
    KRT86 99.98 0
    KRT9 100.00 0
    LAMA4 99.75 0
    LAMB3 100.00 0
    LAMC2 99.43 0
    LEMD3 99.97 0
    LIPH 100.00 0
    LIPN 100.00 0
    LMNA 99.52 0
    LMX1B 99.55 0
    LORICRIN 100.00 0
    LPAR6 100.00 0
    LRP1 100.00 0
    LTBP4 99.49 0
    LYST 100.00 0
    LZTR1 99.92 0
    MAP2K1 100.00 0
    MAP2K2 99.99 0
    MAPRE2 100.00 0
    MBTPS2 100.00 0
    MC1R 100.00 0
    MEN1 99.83 0
    MITF 100.00 0
    MLH1 99.99 0
    MLPH 100.00 0
    MMP1 99.99 0
    MMP2 99.93 0
    MPDU1 100.00 0
    MPLKIP 100.00 0
    MSH2 100.00 0
    MSH6 99.92 0
    MSMO1 100.00 0
    MSX1 99.53 0
    MUTYH 100.00 0
    MYO5A 99.78 0
    NF1 98.85 0
    NF2 99.97 0
    NFKBIA 99.97 0
    NGF 100.00 0
    NHP2 100.00 0
    NIPAL4 100.00 0
    NIPBL 99.62 0
    RMRP 100.00 0
    NOP10 100.00 0
    NOTCH1 98.81 0
    NRAS 100.00 0
    NSDHL 100.00 0
    NTRK1 98.91 0
    OCA2 99.73 0
    OFD1 97.68 0
    ORAI1 93.55 0
    OSMR 100.00 0
    PADI3 100.00 0
    PARN 100.00 0
    PAX3 100.00 0
    PDGFRB 100.00 0
    PEX7 96.12 0
    PHYH 99.87 0
    PIGL 100.00 0
    PIK3CA 100.00 0
    PKP1 100.00 0
    PLCD1 99.74 0
    PLEC 99.33 0
    PLOD1 98.77 0
    PLOD3 99.97 0
    PMS2 98.83 0
    PNPLA1 99.66 0
    POFUT1 99.99 0
    POGLUT1 100.00 0
    POLD1 99.84 0
    POLH 100.00 0
    NT5C3A 100.00 0
    PORCN 99.13 0
    PPP1CB 100.00 0
    PRDM12 83.27 0
    PRDM5 100.00 0
    PRKAR1A 100.00 0
    PRKD1 97.12 0
    PSAT1 99.73 0
    PSENEN 100.00 0
    PTCH1 99.03 0
    PTCH2 100.00 0
    PTDSS1 100.00 0
    PTEN 99.64 0
    PTPN11 94.81 0
    NECTIN1 99.68 0
    NECTIN4 99.41 0
    PYCR1 100.00 0
    RAB27A 100.00 0
    RAD21 100.00 0
    RAF1 100.00 0
    RASA2 99.74 0
    RBPJ 99.69 0
    RECQL4 96.90 0
    RET 96.88 0
    RHBDF2 100.00 0
    RIN2 100.00 0
    RIPK4 99.98 0
    RIT1 100.00 0
    RNF113A 100.00 0
    RPL21 84.30 0
    RRAS 98.63 0
    RSPO1 100.00 0
    RTEL1 100.00 0
    SASH1 99.88 0
    SCN11A 99.99 0
    SCN9A 99.99 0
    SDHB 99.35 0
    SDHD 99.95 0
    SEC23B 100.00 0
    SERPINB7 100.00 0
    SERPINB8 100.00 0
    SERPING1 97.68 0
    SETBP1 100.00 0
    SGPL1 100.00 0
    SHOC2 100.00 0
    HHAT 93.18 0
    SKIC2 100.00 0
    SLC24A5 100.00 0
    SLC27A4 99.97 0
    SLC29A3 95.73 0
    SLC2A10 97.06 0
    SLC39A13 100.00 0
    SLC39A4 100.00 0
    SLC45A2 100.00 0
    SLC6A19 99.99 0
    SLURP1 100.00 0
    SMAD3 100.00 0
    SMARCAD1 99.97 0
    SMARCB1 100.00 0
    SMC3 100.00 0
    SMPD1 100.00 0
    SNAI2 100.00 0
    SNAP29 100.00 0
    SNRPE 99.04 0
    SOS1 100.00 0
    SOS2 99.97 0
    SOX10 97.31 0
    SPINK5 100.00 0
    SPRED1 100.00 0
    SPRY1 100.00 0
    SPTLC1 99.44 0
    SRD5A3 98.97 0
    ST14 99.95 0
    STK11 99.81 0
    STS 99.94 0
    SUFU 100.00 0
    SULT2B1 100.00 0
    SUMF1 100.00 0
    TAT 100.00 0
    TCHH 100.00 0
    TERT 93.51 0
    TFR2 100.00 0
    TGFB2 99.97 0
    TGFB3 100.00 0
    TGFBR1 91.97 0
    TGFBR2 100.00 0
    TGM1 100.00 0
    TGM3 100.00 0
    TGM5 100.00 0
    TINF2 99.96 0
    TMC6 99.87 0
    TNXB 100.00 0
    TP63 100.00 0
    TRPS1 100.00 0
    TRPV3 99.99 0
    TSC1 100.00 0
    TSC2 99.99 0
    SKIC3 99.99 0
    TUBB 100.00 0
    TWIST2 99.15 0
    TYR 100.00 0
    TYRP1 100.00 0
    UBR1 100.00 0
    USB1 100.00 0
    UVSSA 100.00 0
    VPS33B 100.00 0
    WDR19 100.00 0
    WDR35 100.00 0
    WNK1 100.00 0
    WNT10A 94.15 0
    WRAP53 100.00 0
    WRN 100.00 0
    XPA 97.89 0
    XPC 100.00 0
    ZMPSTE24 100.00 0
    ZNF469 99.97 0
    ZNF750 100.00 0
    TERC 100.00 0 t
  • Oculocutaneous albinism / Ocular albinism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AHR 99.79 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    BLOC1S3 100.00 1
    BLOC1S5 99.80 1
    BLOC1S6 99.98 1
    DCT 99.98 1
    DTNBP1 99.89 1
    EPG5 99.95 1
    FRMD7 99.97 1
    GPR143 99.60 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    LRMDA 99.87 1
    LYST 99.87 1
    MC1R 100.00 1
    MITF 99.98 1
    MLPH 100.00 1
    MYO5A 99.94 1
    OCA2 99.60 1
    PAX6 99.95 1
    RAB27A 99.94 1
    SLC24A5 99.99 1
    SLC38A8 99.99 1
    SLC45A2 100.00 1
    TYR 100.00 1
    TYRP1 99.97 1
  • Respiratory Disorders panel (137 genes) - Ugent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 99.96 1
    ABCC8 99.98 1
    ACVRL1 99.88 1
    AP3B1 99.89 1
    AQP1 99.99 1
    ARHGEF1 99.97 1
    ASAH1 99.90 1
    ASCL1 99.82 1
    ATP13A3 99.84 1
    ATP6AP1 100.00 1
    BDNF 100.00 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMP10 99.96 1
    BMPR1B 99.61 1
    BMPR2 99.95 1
    CARD11 99.97 1
    CAV1 99.97 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CD19 99.98 1
    CD81 99.97 1
    CIITA 99.99 1
    CLEC1A 99.97 1
    CLEC7A 99.98 1
    COPA 99.61 1
    CR2 99.97 1
    CSF2RA 93.86 1
    CSF2RB 100.00 1
    CTLA4 99.99 1
    CTNNBL1 100.00 1
    DKC1 99.59 1
    DNAAF1 99.99 1
    DNAAF2 99.91 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAH9 99.79 1
    DOCK8 99.86 1
    DTNBP1 99.89 1
    EFEMP2 99.94 1
    EIF2AK4 99.97 1
    ELMOD2 99.80 1
    ELN 99.86 1
    ENG 100.00 1
    ERBIN 99.69 1
    FAM111B 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBLN5 100.00 1
    FLNA 99.99 1
    FNIP1 99.87 1
    FOXF1 99.99 1
    FOXP3 99.93 1
    GARS1 99.93 1
    GATA2 99.99 1
    GBA1 96.92 1
    GDF2 100.00 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    IKZF1 99.92 1
    IL6R 92.46 1
    IL6ST 99.88 1
    IRF2BP2 100.00 1
    ITCH 95.57 1
    ITGA3 99.86 1
    KCNA5 100.00 1
    KCNK3 100.00 1
    KDR 99.86 1
    LRBA 99.76 1
    LTBP4 99.99 1
    MARS1 99.97 1
    MOGS 100.00 1
    MS4A1 99.60 1
    MUC5B 99.94 1
    NFKB1 99.80 1
    NFKB2 99.98 1
    NKX2-1 100.00 1
    NME8 99.83 1
    NOD2 99.98 1
    NOTCH3 99.99 1
    NSMCE3 100.00 1
    OAS1 99.96 1
    PARN 99.75 1
    PGM3 99.94 1
    PIK3CD 99.99 1
    PIK3CG 99.72 1
    PIK3R1 99.86 1
    POU2AF1 99.43 1
    PTEN 99.89 1
    RAC2 99.99 1
    RFX5 99.88 1
    RFXANK 100.00 1
    RFXAP 99.98 1
    RGPD4 71.96 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RTEL1 100.00 1
    SCNN1A 100.00 1
    SCNN1B 99.38 1
    SCNN1G 99.94 1
    SEC61A1 99.99 1
    SERPINA1 100.00 1
    SFTPA1 99.99 1
    SFTPA2 99.81 1
    SFTPB 99.99 1
    SFTPC 99.99 1
    SFTPD 99.62 1
    SH3KBP1 99.95 1
    SLC34A2 99.99 1
    SLC7A7 99.99 1
    SMAD4 99.97 1
    SMAD9 99.99 1
    SMPD1 100.00 1
    SOX17 100.00 1
    SPINK5 99.91 1
    STAT3 99.97 1
    STAT5B 99.50 1
    STING1 99.87 1
    TBX4 99.96 1
    TERC 98.59 1
    TERT 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TINF2 100.00 1
    TNFRSF13B 99.43 1
    TNFRSF13C 99.99 1
    TNFSF12 100.00 1
    TNFSF13 100.00 1
    TRNT1 99.97 1
    TSC1 99.99 1
    TSC2 99.98 1
    ZNF341 100.00 1
  • Skin disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AAAS 99.88 1
    AAGAB 100.00 1
    ABCA12 99.94 1
    ABCB6 99.97 1
    ABHD5 99.98 1
    ADAM10 99.88 1
    ADAR 99.84 1
    ADGRE2 98.77 1
    ALDH3A2 99.95 1
    ALOX12B 100.00 1
    ALOXE3 99.98 1
    ALX4 100.00 1
    ANTXR1 99.83 1
    ANTXR2 99.67 1
    AP1S1 99.49 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    APCDD1 99.99 1
    AQP5 99.88 1
    ARHGAP31 100.00 1
    ARSL 99.93 1
    ATP2A2 99.98 1
    ATP6V1B2 99.99 1
    ATP7A 99.87 1
    AXIN2 100.00 1
    BANF1 99.84 1
    BCS1L 99.99 1
    BLM 99.80 1
    BLOC1S3 100.00 1
    BLOC1S6 99.98 1
    BMS1 85.80 1
    BRAF 99.78 1
    C1QA 99.99 1
    C1QB 99.58 1
    C1QC 99.97 1
    C5 99.92 1
    CARD11 99.97 1
    CARD14 99.99 1
    CASP10 99.85 1
    CASP14 99.86 1
    CASP8 99.92 1
    CAST 99.94 1
    CBL 99.95 1
    CD151 100.00 1
    CDH1 99.98 1
    CDH3 99.98 1
    CDKN1B 100.00 1
    CDKN1C 100.00 1
    CDSN 99.94 1
    CERS3 99.85 1
    CHST8 100.00 1
    CHUK 99.83 1
    CLDN1 99.99 1
    CLDN10 99.97 1
    COG6 99.86 1
    COL17A1 99.98 1
    COL18A1 99.99 1
    COL7A1 99.99 1
    COX7B 99.86 1
    CYP11B1 100.00 1
    CSTB 99.99 1
    CSTA 99.83 1
    CTLA4 99.99 1
    CTSC 99.97 1
    CYLD 99.46 1
    CYP11A1 99.99 1
    CYP21A2 99.85 1
    CYP26C1 99.92 1
    CYP4F22 99.97 1
    DCAF17 99.84 1
    DCLRE1C 99.79 1
    DCPS 99.98 1
    DDB2 100.00 1
    DHCR24 99.93 1
    DIP2B 99.65 1
    DKC1 99.59 1
    DLL4 100.00 1
    DOCK6 100.00 1
    DOCK8 99.86 1
    DPH1 100.00 1
    DSC3 99.73 1
    DSG1 99.35 1
    DSG3 99.97 1
    DSG4 99.91 1
    DSP 100.00 1
    DST 99.52 1
    DSTYK 99.83 1
    DTNBP1 99.89 1
    GLB1 99.92 1
    EDA 99.44 1
    EDAR 99.89 1
    EDARADD 99.98 1
    EDN3 100.00 1
    EDNRA 99.97 1
    EDNRB 99.99 1
    ELOVL4 99.91 1
    ENPP1 99.88 1
    EOGT 99.09 1
    EPG5 99.95 1
    ERCC2 99.98 1
    ERCC3 99.90 1
    ERCC4 99.92 1
    ERCC5 99.99 1
    ERCC6 99.60 1
    ERCC8 99.79 1
    EVC 99.95 1
    EVC2 99.97 1
    EXPH5 99.81 1
    F12 99.99 1
    FAM111B 99.98 1
    FAS 99.99 1
    FASLG 99.84 1
    FECH 99.98 1
    FERMT1 99.90 1
    FGFR1 98.88 1
    FGFR3 100.00 1
    FOXN1 99.97 1
    FZD6 99.95 1
    GBA1 96.92 1
    GINS1 99.99 1
    GJA1 100.00 1
    GJB2 100.00 1
    GJB3 99.99 1
    GJB4 100.00 1
    GJB6 100.00 1
    GPR143 99.60 1
    GREM2 100.00 1
    GRHL2 100.00 1
    GRIN2B 99.99 1
    GTF2E2 100.00 1
    GTF2H5 100.00 1
    HCCS 99.90 1
    HOXC13 99.98 1
    HPGD 99.98 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    HR 99.95 1
    HRAS 100.00 1
    HSPA9 99.96 1
    IFT122 99.98 1
    IFT43 99.97 1
    IKBKG 57.34 1
    IL2RA 99.99 1
    IL31RA 100.00 1
    ITGA3 99.86 1
    ITGA6 99.78 1
    ITGB4 99.99 1
    ITPR2 99.13 1
    JUP 99.94 1
    KCNH1 99.92 1
    KCTD1 99.99 1
    KDF1 99.86 1
    KDSR 99.99 1
    KEAP1 100.00 1
    KIT 99.86 1
    KITLG 99.46 1
    KLHL24 99.90 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    KRT1 99.89 1
    KRT10 100.00 1
    KRT13 99.98 1
    KRT14 99.99 1
    KRT16 100.00 1
    KRT17 100.00 1
    KRT2 99.88 1
    KRT3 99.89 1
    KRT5 99.98 1
    KRT6A 100.00 1
    KRT6B 99.95 1
    KRT6C 96.59 1
    KRT7 99.87 1
    KRT74 99.92 1
    KRT83 100.00 1
    KRT85 99.97 1
    KRT9 100.00 1
    LAMA4 99.90 1
    LAMB3 99.99 1
    LAMC2 99.54 1
    LBR 99.66 1
    LIPH 99.99 1
    LIPN 99.94 1
    LMNA 99.96 1
    LMNB2 99.99 1
    LORICRIN 100.00 1
    LPAR6 99.99 1
    LRMDA 99.87 1
    LRP1 99.94 1
    LYST 99.87 1
    LZTR1 99.46 1
    MBTPS2 99.81 1
    MC1R 100.00 1
    MC2R 100.00 1
    MC4R 100.00 1
    MCM4 99.96 1
    MEN1 99.98 1
    MITF 99.98 1
    MLPH 100.00 1
    MMP1 99.99 1
    MPDU1 99.97 1
    MPLKIP 99.99 1
    MSX1 100.00 1
    MYO5A 99.94 1
    NECTIN1 99.99 1
    NECTIN4 99.97 1
    NF1 99.88 1
    NFKBIA 99.99 1
    NIPAL4 100.00 1
    NLRC4 99.95 1
    NLRP1 95.26 1
    NLRP12 99.99 1
    NLRP3 100.00 1
    NNT 99.87 1
    NOP10 99.99 1
    NOTCH1 99.98 1
    NR5A1 99.92 1
    NRAS 99.66 1
    NSDHL 99.87 1
    OCA2 99.60 1
    OSMR 99.95 1
    PADI3 99.35 1
    PAX3 100.00 1
    PAX6 99.95 1
    PDGFRB 99.99 1
    PEPD 99.98 1
    PEX7 99.72 1
    PGM3 99.94 1
    PHGDH 99.79 1
    PHYH 100.00 1
    PIEZO1 99.98 1
    PIGL 99.98 1
    PIGT 99.95 1
    PKP1 99.98 1
    PLCD1 99.98 1
    PLCG2 99.99 1
    PLEC 100.00 1
    PMVK 99.60 1
    PNPLA1 99.98 1
    PNPLA2 100.00 1
    PNPLA6 99.99 1
    POFUT1 100.00 1
    POGLUT1 99.99 1
    POLA1 99.57 1
    POLH 99.85 1
    POMC 99.99 1
    NT5C3A 99.95 1
    PORCN 99.93 1
    HCRT 99.85 1
    PRKCD 99.96 1
    PRKD1 99.96 1
    PSAT1 99.98 1
    PSENEN 100.00 1
    PSMB8 99.96 1
    PTCH1 99.99 1
    PTEN 99.89 1
    PTPN11 99.98 1
    PTPRF 99.92 1
    RAB27A 99.94 1
    RAD50 99.75 1
    RAF1 99.97 1
    RAG1 100.00 1
    RAG2 100.00 1
    RBM28 99.99 1
    RBPJ 99.96 1
    RECQL4 100.00 1
    RET 99.97 1
    RHBDF2 99.95 1
    RIN2 99.99 1
    RIT1 99.78 1
    RMRP 100.00 1
    RSPO1 99.99 1
    SCN9A 99.83 1
    SDR9C7 99.99 1
    SERPINB7 99.93 1
    SERPINB8 99.98 1
    SERPING1 100.00 1
    SGPL1 99.95 1
    SHOC2 99.96 1
    SLC24A5 99.99 1
    SLC27A4 100.00 1
    SLC29A3 99.98 1
    SLC39A4 100.00 1
    SLC45A2 100.00 1
    SLURP1 100.00 1
    SMARCA2 99.95 1
    SMARCAD1 99.86 1
    SNAI2 100.00 1
    SNAP29 99.85 1
    SNRPE 99.26 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX10 100.00 1
    SOX18 100.00 1
    SPINK5 99.91 1
    SPINT1 100.00 1
    SPRED1 99.99 1
    SRD5A3 99.94 1
    ST14 100.00 1
    ST3GAL5 99.96 1
    STAT3 99.97 1
    STIM1 99.99 1
    STK11 100.00 1
    STS 99.81 1
    SULT2B1 99.92 1
    SUMF1 99.95 1
    TAT 99.99 1
    TCHH 99.94 1
    TERC 98.59 1
    TGM1 99.82 1
    TGM3 100.00 1
    TGM5 100.00 1
    TINF2 100.00 1
    TP63 99.97 1
    TRPM1 99.96 1
    TRPS1 100.00 1
    TRPV3 99.90 1
    TWIST2 100.00 1
    TXNRD2 99.97 1
    TYRP1 99.97 1
    UBR1 99.93 1
    UROD 99.32 1
    UROS 100.00 1
    USB1 89.62 1
    VCX 96.04 1
    VCX3A 85.19 1
    WDR19 99.80 1
    WDR35 99.92 1
    WNT10A 100.00 1
    XPA 99.68 1
    XPC 99.98 1
    ZMPSTE24 98.70 1
  • Trombosis - Hemostasis (107 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95%
    ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95%
    ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95%
    ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95%
    ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95%
    ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95%
    ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95%
    ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95%
    ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95%
    ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95%
    CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95%
    COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95%
    COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95%
    COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95%
    COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95%
    CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95%
    DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95%
    ENG 95.00 0 NM_000118.3/ interpretable range CS1>95%
    ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95%
    F10 95.00 0 NM_000504.3/ interpretable range CS1>95%
    F11 95.00 0 NM_000128.3/ interpretable range CS1>95%
    F12 95.00 0 NM_000505.3/ interpretable range CS1>95%
    F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95%
    F13B 95.00 0 NM_001994.2/ interpretable range CS1>95%
    F2 95.00 0 NM_000506.3/ interpretable range CS1>95%
    F5 95.00 0 NM_000130.4/ interpretable range CS1>95%
    F7 95.00 0 NM_000131.4/ interpretable range CS1>95%
    F8 95.00 0 NM_000132.3/ interpretable range CS1>95%
    F9 95.00 0 NM_000133.3/ interpretable range CS1>95%
    FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95%
    FGA 95.00 0 NM_021871.2/ interpretable range CS1>95%
    FGB 95.00 0 NM_005141.4/ interpretable range CS1>95%
    FGG 95.00 0 NM_000509.4/ interpretable range CS1>95%
    FLII 95.00 0 NM_002017.4/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95%
    FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95%
    GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95%
    GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95%
    GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95%
    GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95%
    GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95%
    GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95%
    GP9 95.00 0 NM_000174.4/ interpretable range CS1>95%
    HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95%
    HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95%
    HRG 95.00 0 NM_000412.3/ interpretable range CS1>95%
    IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95%
    ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95%
    ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95%
    KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95%
    KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95%
    LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95%
    LYST 95.00 0 NM_000081.3/ interpretable range CS1>95%
    MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95%
    MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95%
    MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95%
    MPL 95.00 0 NM_005373.2/ interpretable range CS1>95%
    MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95%
    NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95%
    NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95%
    P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95%
    PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95%
    PLG 95.00 0 NM_000301.3/ interpretable range CS1>95%
    PROC 95.00 0 NM_000312.3/ interpretable range CS1>95%
    PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95%
    PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95%
    RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95%
    RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95%
    RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95%
    SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95%
    SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95%
    SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95%
    SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95%
    SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95%
    SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95%
    SRC 95.00 0 NM_005417.4/ interpretable range CS1>95%
    STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95%
    STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95%
    TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95%
    TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95%
    THBD 95.00 0 NM_000361.2/ interpretable range CS1>95%
    THPO 95.00 0 NM_000460.3/ interpretable range CS1>95%
    TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95%
    TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95%
    VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95%
    VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95%
    VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%
    VWF 95.00 0 NM_000552.3/ interpretable range CS1>95%
    WAS 95.00 0 NM_000377.2/ interpretable range CS1>95%
    RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95%
  • chILD (34 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 95.00 0 NM_001089.3 / interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.5/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.5/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.3/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.4/ interpretable range CS1>95%
    COPA 95.00 0 NM_004371.4/ interpretable range CS1>95%
    CSF2RA 95.00 0 NM_006140.6/ interpretable range CS1>95%
    CSF2RB 95.00 0 NM_000395.3/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.5/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.4/ interpretable range CS1>95%
    FOXF1 95.00 0 NM_001451.3/ interpretable range CS1>95%
    GATA2 95.00 0 NM_032638.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.5/ interpretable range CS1>95%
    HPS3 95.00 0 NM_022081.6/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.2/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.6/ interpretable range CS1>95%
    MARS1 95.00 0 NM_004990.4/ interpretable range CS1>95%
    NKX2-1 95.00 0 NM_001079668.3/ interpretable range CS1>95%
    SFTPA1 95.00 0 NM_005411.5/ interpretable range CS1>95%
    SFTPA2 95.00 0 NM_001098668.4/ interpretable range CS1>95%
    SFTPB 95.00 0 NM_198843.3/ interpretable range CS1>95%
    SFTPC 95.00 0 NM_003018.4/ interpretable range CS1>95%
    STING1 95.00 0 NM_198282.4/ interpretable range CS1>95%
    TBX4 95.00 0 NM_018488.3/ interpretable range CS1>95%
    TERC 95.00 0 NR_001566.1/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.6/ interpretable range CS1>95%
    MUC5B 95.00 0 NM_002458.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_002582.4/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_032957.5/ interpretable range CS1>95%
    SLC34A2 95.00 0 NM_006424.3/ interpretable range CS1>95%
    SLC7A7 95.00 0 NM_001126106.4/ interpretable range CS1>95%
    RAB5B 95.00 0 NM_002868.4/ interpretable range CS1>95%