1. Analytes
  2. EFEMP2

EFEMP2

Analyte Export to PDF
Name:
EGF containing fibulin extracellular matrix protein 2
Symbol:
EFEMP2
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
FBLN4
UPH1
fibulin 4
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Arterial Tortuosity (2 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SLC2A10
    EFEMP2
  • Congenital structural heart defects - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AATK 99.98 1
    ABL1 100.00 1
    ACAN 91.51 1
    ACTA1 99.99 1
    ACTB 100.00 1
    ACTC1 98.57 1
    ACTG1 100.00 1
    ACTN2 99.99 1
    ACVR1 99.94 1
    ACVR1B 99.99 1
    ACVR2A 99.15 1
    ACVR2B 99.99 1
    ACVRL1 99.88 1
    ADAMTS10 99.99 1
    ADNP 100.00 1
    AKAP12 100.00 1
    AKT1 100.00 1
    AKT2 99.85 1
    ALDH1A2 99.97 1
    ALX3 99.74 1
    ANKRD1 99.57 1
    ANKRD11 99.85 1
    AP1B1 99.99 1
    APAF1 98.70 1
    AR 99.76 1
    ARHGAP31 100.00 1
    ARID4A 99.90 1
    ATP2A2 99.98 1
    ATRX 99.44 1
    AXIN1 100.00 1
    BCOR 99.97 1
    BMP10 99.96 1
    BMP2 99.79 1
    BMP4 100.00 1
    BMP6 100.00 1
    BMP7 100.00 1
    BMPR1A 99.58 1
    BMPR2 99.95 1
    BRAF 99.78 1
    BRIP1 99.39 1
    BVES 99.83 1
    CASQ2 94.39 1
    CAV1 99.97 1
    CAV3 100.00 1
    CBL 99.95 1
    CCDC103 99.68 1
    CCDC39 99.74 1
    CCDC40 100.00 1
    CCDC65 99.80 1
    CCN1 99.99 1
    CCNO 100.00 1
    CD96 99.91 1
    CDK13 99.83 1
    CDK4 100.00 1
    CDX2 100.00 1
    CENPF 99.97 1
    CFAP53 99.95 1
    CFC1 21.93 1
    CHAC2 99.68 1
    CHD4 99.99 1
    CHD7 99.99 1
    CHD8 99.96 1
    CITED2 100.00 1
    COL1A1 99.90 1
    COL1A2 99.34 1
    COL2A1 99.87 1
    COX7B 99.86 1
    CREBBP 99.97 1
    CRELD1 99.99 1
    CRIP2 99.99 1
    CRYAB 100.00 1
    CSNK1D 99.99 1
    CSRP1 99.75 1
    CSRP3 100.00 1
    CTNNB1 99.95 1
    DDX3X 99.01 1
    DES 100.00 1
    DIAPH3 99.85 1
    DICER1 99.96 1
    DLGAP5 99.83 1
    DLL1 99.99 1
    DLL4 100.00 1
    DNAAF1 99.99 1
    DNAAF11 99.80 1
    DNAAF2 99.91 1
    DNAAF3 99.99 1
    DNAAF4 99.78 1
    DNAAF5 99.99 1
    DNAH11 99.93 1
    DNAH5 99.98 1
    DNAI1 99.92 1
    DNAI2 99.86 1
    DNAJB13 99.91 1
    DNAH9 99.79 1
    DRC1 99.93 1
    DSCAM 99.99 1
    DVL1 100.00 1
    DYRK1A 99.98 1
    E2F1 99.99 1
    ECE1 99.92 1
    EDNRA 99.97 1
    EFEMP2 99.94 1
    EFNB1 99.95 1
    EFTUD2 99.93 1
    EGFR 99.68 1
    EGR1 99.99 1
    EHMT1 98.38 1
    ELN 99.86 1
    ENG 100.00 1
    EOGT 99.09 1
    EP300 99.97 1
    EPHB2 99.86 1
    EPHB4 99.82 1
    ERBB2 99.98 1
    ERCC4 99.92 1
    ESR2 99.96 1
    ETS1 99.99 1
    EVC 99.95 1
    EVC2 99.97 1
    EWSR1 99.94 1
    EZH2 99.89 1
    F2R 99.98 1
    FABP3 99.87 1
    FADD 99.97 1
    FANCA 100.00 1
    FANCB 99.24 1
    FANCC 99.98 1
    FANCD2 99.86 1
    FANCE 99.99 1
    FANCF 100.00 1
    FANCG 100.00 1
    FANCI 99.96 1
    FANCL 99.67 1
    FBLN1 98.69 1
    FBLN7 99.95 1
    FBN1 99.85 1
    FBN2 99.90 1
    FGF10 99.95 1
    FGF8 100.00 1
    FGFR1 100.00 1
    FGFR2 99.99 1
    FGFR3 100.00 1
    FHL2 100.00 1
    FIBP 99.83 1
    FLII 100.00 1
    FLNA 99.99 1
    FLNC 99.99 1
    FLT1 99.99 1
    FLT4 97.93 1
    FN1 99.95 1
    FOXC1 100.00 1
    FOXC2 100.00 1
    FOXH1 100.00 1
    FOXK2 99.76 1
    FOXL1 100.00 1
    FOXL2 99.97 1
    FOXO1 100.00 1
    FOXP1 99.98 1
    FSCN2 100.00 1
    G6PC3 99.98 1
    GAS8 100.00 1
    GATA2 99.99 1
    GATA4 99.99 1
    GATA5 100.00 1
    GATA6 99.90 1
    GATAD2B 99.44 1
    GDF1 100.00 1
    GDF11 99.97 1
    GDF5 100.00 1
    GDNF 99.99 1
    GJA1 100.00 1
    GJA5 100.00 1
    GJD2 99.99 1
    GLB1 100.00 1
    GLI2 99.93 1
    GLI3 100.00 1
    GPC3 99.60 1
    GPC5 99.96 1
    GPC6 99.98 1
    GRK5 99.97 1
    GTF2I 47.18 1
    GTF2IRD1 99.77 1
    HAND1 99.99 1
    HAND2 99.97 1
    HDAC8 99.74 1
    HES4 100.00 1
    HEY2 99.75 1
    HIF1A 99.87 1
    HMGB2 99.99 1
    HNF1A 100.00 1
    HNF4A 100.00 1
    HOXA1 100.00 1
    HOXB2 99.99 1
    HRAS 100.00 1
    HSPB1 99.97 1
    HSPB8 100.00 1
    HSPG2 99.87 1
    HYDIN 81.28 1
    ID2 100.00 1
    IGF1R 100.00 1
    IGFBP4 99.85 1
    IKBKB 99.93 1
    ILK 100.00 1
    INHBA 99.98 1
    INHBC 99.99 1
    INPP5D 99.98 1
    INSR 99.99 1
    IRS1 100.00 1
    IRX4 99.99 1
    ISL1 99.99 1
    ITGAV 99.40 1
    ITGB1 99.96 1
    ITGB3 99.83 1
    ITGB4 99.99 1
    JAG1 100.00 1
    JAM3 100.00 1
    JUN 100.00 1
    KANSL1 99.85 1
    KAT6A 99.93 1
    KAT6B 99.79 1
    KDM3B 99.98 1
    KDM5A 99.90 1
    KDM5B 97.15 1
    KDM6A 99.74 1
    KDR 99.86 1
    KIT 99.86 1
    KMT2D 99.98 1
    KRAS 99.13 1
    KREMEN1 99.88 1
    LAMA2 99.95 1
    LAMA5 99.99 1
    LAMC1 99.55 1
    LBR 99.66 1
    LEFTY1 99.98 1
    LEFTY2 100.00 1
    LHX3 99.99 1
    LMNA 99.96 1
    LMX1B 100.00 1
    LRP2 99.86 1
    LTBP1 99.95 1
    LTBP3 99.96 1
    LZTR1 99.46 1
    MAFG 100.00 1
    MAP2K1 99.98 1
    MAP2K2 99.99 1
    MAPK14 99.95 1
    MCTP2 99.99 1
    MECOM 99.97 1
    MED13L 99.99 1
    MEF2C 99.57 1
    MEGF8 99.90 1
    MESP1 100.00 1
    MET 99.97 1
    METTL3 99.98 1
    MGP 99.95 1
    MID1 99.90 1
    MITF 99.98 1
    MMP2 99.96 1
    MMP21 99.99 1
    MSX1 100.00 1
    MTHFD1 100.00 1
    MTHFR 99.97 1
    MTRR 99.98 1
    MYBPC3 99.98 1
    MYC 100.00 1
    MYH10 99.91 1
    MYH11 99.16 1
    MYH6 100.00 1
    MYH7 99.99 1
    MYH9 99.95 1
    MYL2 99.99 1
    MYL3 99.99 1
    MYL7 99.95 1
    MYOCD 99.99 1
    MYOM1 99.98 1
    MYOZ2 99.99 1
    NF1 99.88 1
    NFATC1 100.00 1
    NFIX 99.99 1
    NFKB1 99.80 1
    NID2 99.97 1
    NIPBL 99.34 1
    NKX2-1 100.00 1
    NKX2-5 99.75 1
    NKX2-6 100.00 1
    NME8 99.83 1
    NNMT 100.00 1
    NODAL 99.98 1
    NONO 99.94 1
    NOS3 93.73 1
    NOTCH1 99.98 1
    NOTCH2 99.03 1
    NOTCH3 99.99 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NPPA 100.00 1
    NR2F2 100.00 1
    NR4A2 99.97 1
    NRAS 99.66 1
    NRP1 99.99 1
    NRP2 99.98 1
    NSD1 99.98 1
    ODAD1 96.04 1
    ODAD2 98.19 1
    ODAD3 99.96 1
    ODAD4 99.85 1
    OTX2 100.00 1
    PACS1 99.96 1
    PAX3 100.00 1
    PCSK5 99.97 1
    PDGFC 99.97 1
    PDGFRA 99.94 1
    PDGFRB 99.99 1
    PDHX 100.00 1
    PIGA 99.81 1
    PIGL 99.98 1
    PIGN 99.91 1
    PIGT 99.95 1
    PITX2 99.98 1
    PKD1L1 99.84 1
    PLAGL1 99.96 1
    PLAT 99.99 1
    POU5F1 100.00 1
    PPARG 99.96 1
    PPARGC1A 99.82 1
    PPP3CA 99.84 1
    PRKACA 99.95 1
    PRKD1 99.96 1
    PROX1 99.98 1
    PRRX1 99.56 1
    PSEN1 100.00 1
    PSEN2 99.97 1
    PTEN 99.89 1
    PTK2 99.97 1
    PTP4A3 99.99 1
    PTPN11 99.98 1
    PUF60 100.00 1
    RAB23 99.97 1
    RAD21 99.91 1
    RAD51C 99.02 1
    RAF1 99.97 1
    RAI1 99.22 1
    RAI2 99.98 1
    RARB 99.99 1
    RARG 99.98 1
    RB1 99.84 1
    RBBP7 99.87 1
    RBL2 99.44 1
    RBM10 99.98 1
    RBM8A 99.37 1
    RELA 99.99 1
    RERE 99.94 1
    RET 99.97 1
    RGS19 99.88 1
    RIT1 99.78 1
    RNF20 99.93 1
    ROR2 99.99 1
    RPGR 94.45 1
    RPL11 99.81 1
    RPL15 31.77 1
    RPL26 30.55 1
    RPL35A 97.55 1
    RPL5 28.81 1
    RPS10 0.00 1
    RPS17 100.00 1
    RPS19 100.00 1
    RPS24 91.48 1
    RPS26 8.99 1
    RPS28 100.00 1
    RPS29 99.96 1
    RPS7 88.50 1
    RSPH1 99.87 1
    RSPH3 99.94 1
    RSPH4A 99.95 1
    RSPH9 99.99 1
    RYR2 99.94 1
    SALL1 100.00 1
    SALL4 100.00 1
    SCN5A 100.00 1
    SESN1 99.95 1
    SF3B4 99.65 1
    SGCA 100.00 1
    SH3PXD2B 100.00 1
    SHH 100.00 1
    SHOC2 99.96 1
    HHAT 99.98 1
    SLC19A1 99.99 1
    SLC25A4 100.00 1
    SLC2A10 100.00 1
    SLX4 100.00 1
    SMAD2 99.92 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMAD6 100.00 1
    SMARCE1 99.87 1
    SMC1A 99.98 1
    SMC3 99.91 1
    SMG9 99.99 1
    SOS1 99.68 1
    SOS2 99.39 1
    SOX2 100.00 1
    SOX4 99.36 1
    SP1 99.98 1
    SPAG1 99.78 1
    SPATC1L 99.99 1
    SPECC1L 99.98 1
    SRCAP 99.99 1
    SRF 99.99 1
    STAT3 99.97 1
    STRA6 99.95 1
    SUZ12 98.58 1
    TAB2 99.75 1
    TBX1 99.95 1
    TBX2 99.97 1
    TBX20 99.99 1
    TBX3 100.00 1
    TBX5 99.98 1
    TBX6 99.99 1
    TCAP 100.00 1
    TCF21 100.00 1
    TCF3 100.00 1
    TCN2 100.00 1
    CRIPTO 99.82 1
    TEAD1 99.97 1
    TEK 99.98 1
    TFAP2A 100.00 1
    TFAP2B 99.98 1
    TFAP2C 100.00 1
    TGFB1 100.00 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    TGIF1 100.00 1
    THBS1 100.00 1
    THBS4 100.00 1
    THOC5 99.90 1
    THRB 99.82 1
    DDR2 97.39 1
    TLL1 99.94 1
    TNFRSF11A 100.00 1
    TNFRSF1A 100.00 1
    TNNI3 100.00 1
    TNNT2 99.87 1
    TNR 99.80 1
    TP53 99.98 1
    TP73 100.00 1
    TPM1 99.92 1
    TRPM2 99.99 1
    TSR2 99.96 1
    TTN 99.15 1
    TWIST1 100.00 1
    UBE2B 99.94 1
    UBE2T 99.89 1
    USP44 99.86 1
    USP9X 99.84 1
    VCAN 99.99 1
    VDR 99.86 1
    VEGFA 99.99 1
    VEGFC 99.96 1
    WASHC5 99.98 1
    WDR5 100.00 1
    WNT11 100.00 1
    WT1 99.99 1
    YY1 100.00 1
    ZEB2 99.97 1
    ZFHX3 99.96 1
    ZFPM2 100.00 1
    ZIC3 99.90 1
    ZMYND10 99.99 1
  • Cutis Laxa / Geroderma osteodysplasticum - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALDH18A1 100.00 1
    ATP6V0A2 100.00 1
    ATP7A 100.00 1
    COG7 100.00 1
    EFEMP2 100.00 1
    ELN 100.00 1
    FBLN5 100.00 1
    GORAB 100.00 1
    LTBP4 100.00 1
    NAA10 100.00 1
    PYCR1 100.00 1
    RIN2 100.00 1
    TALDO1 100.00 1
    ATP6V1A 100.00 1
    ATP6V1E1 100.00 1
    EFEMP1 100.00 1
    LOX 100.00 1
    LTBP1 100.00 1
  • 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
  • Familial Thoracic Aortic Aneurysm (21 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTA2 100.00 1
    BGN 100.00 1
    COL3A1 100.00 1
    FBN1 100.00 1
    FOXE3 100.00 1
    HCN4 100.00 1
    LOX 100.00 1
    LTBP3 100.00 1
    MAT2A 100.00 1
    MFAP5 100.00 1
    MYH11 100.00 1
    MYLK 100.00 1
    PRKG1 100.00 1
    SMAD2 100.00 1
    SMAD3 100.00 1
    TGFB2 100.00 1
    TGFB3 100.00 1
    TGFBR1 100.00 1
    TGFBR2 100.00 1
    IPO8 100.00 1
    EFEMP2 100.00 1
  • Familial Thoracic Aortic Aneurysm (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 100.00 0
    ACTA2 100.00 0
    ARIH1 100.00 0
    ASPH 100.00 0
    BGN 100.00 0
    COL3A1 100.00 0
    EFEMP2 100.00 0
    ELN 100.00 0
    EMILIN1 100.00 0
    FBN1 100.00 1
    FBN2 100.00 0
    FKBP14 100.00 0
    FLNA 100.00 0
    FOXE3 100.00 0
    HCN4 100.00 0
    IPO8 100.00 0
    JAG1 100.00 0
    LMOD1 100.00 0
    LOX 100.00 0
    LTBP3 100.00 0
    MAT2A 100.00 0
    MFAP5 100.00 0
    MYH11 100.00 0
    MYLK 100.00 0
    NOTCH1 100.00 0
    NPR3 100.00 0
    PLOD1 100.00 0
    PMEPA1 100.00 0
    PRKG1 100.00 0
    ROBO4 100.00 0
    SKI 100.00 0
    SLC2A10 100.00 0
    SMAD2 100.00 0
    SMAD3 100.00 0
    SMAD4 100.00 0
    SMAD6 100.00 0
    TBX20 100.00 0
    TGFB2 100.00 0
    TGFB3 100.00 0
    TGFBR1 100.00 0
    TGFBR2 100.00 1
    THSD4 100.00 0
  • 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
  • Stroke - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA1 99.92 1
    ABCC6 98.57 1
    ACAD9 100.00 1
    ACP5 100.00 1
    ACTA2 99.99 1
    ACVRL1 99.88 1
    ADA2 100.00 1
    APP 99.92 1
    ASS1 77.52 1
    ATP7A 99.87 1
    C1R 99.99 1
    CACNA1A 98.16 1
    CBS 17.79 1
    CCM2 99.93 1
    CD59 100.00 1
    COG6 99.86 1
    COL1A1 99.90 1
    COL3A1 99.87 1
    COL4A1 99.99 1
    COL4A2 99.98 1
    COL5A1 99.99 1
    COL5A2 99.86 1
    COQ8A 100.00 1
    CYP21A2 99.91 1
    CST3 100.00 1
    CTSA 99.98 1
    DYRK1B 99.99 1
    EFEMP2 99.94 1
    ENG 100.00 1
    ENPP1 99.88 1
    ESCO2 99.92 1
    F10 99.98 1
    F13A1 99.43 1
    F2 99.99 1
    F5 99.59 1
    F7 100.00 1
    F8A1 21.76 1
    FBN1 99.85 1
    FGA 99.98 1
    FGB 99.93 1
    FGG 99.98 1
    FOXC1 100.00 1
    GAA 100.00 1
    GATA3 99.96 1
    GCDH 100.00 1
    GGCX 99.88 1
    GLA 99.90 1
    GUCY1A1 99.99 1
    HBB 100.00 1
    HSD11B2 99.99 1
    HTRA1 100.00 1
    ITM2B 99.85 1
    IVD 100.00 1
    JAG1 100.00 1
    JAK2 99.52 1
    JAM3 100.00 1
    KNG1 99.99 1
    KRIT1 99.33 1
    LMNA 99.96 1
    MFAP5 99.96 1
    MFN2 99.98 1
    MMACHC 99.98 1
    MMUT 99.68 1
    MTHFR 99.97 1
    MYH11 99.16 1
    NF1 99.88 1
    NOTCH3 99.99 1
    OTC 99.42 1
    PCCA 99.90 1
    PCCB 99.97 1
    PCNT 99.97 1
    PDCD10 99.94 1
    PDE3A 99.97 1
    PKD1 99.98 1
    PLG 99.89 1
    PLOD1 99.93 1
    PLOD3 99.89 1
    PROC 99.98 1
    PROS1 99.84 1
    PTPN11 99.98 1
    RASA1 99.05 1
    SAMHD1 99.98 1
    SERPINE1 99.90 1
    SLC19A2 98.86 1
    SLC2A10 100.00 1
    SMAD3 99.99 1
    SMAD4 99.97 1
    SMARCAL1 99.97 1
    SPARC 99.94 1
    STAT1 99.83 1
    STIM1 99.99 1
    TGFB2 99.87 1
    TGFB3 100.00 1
    TGFBR1 99.94 1
    TGFBR2 99.98 1
    THBD 100.00 1
    TREX1 100.00 1
    TSC1 99.99 1
    TSC2 99.98 1
    TTR 100.00 1
    VHL 100.00 1
    YY1AP1 99.98 1