1. Analytes
  2. PDGFRA

PDGFRA

Analyte Export to PDF
Name:
platelet derived growth factor receptor alpha
Symbol:
PDGFRA
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
CD140a
GAS9
PDGFR2
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
26 Oct 2023 - 23:49
  • 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
  • Gastrointestinal stromal tumor (2 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KIT 100.00 1 Part of Onco-endocrino panel
    PDGFRA 100.00 1 Part of Onco-endocrino panel
  • Maffucci syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Onco-endocine pathologies (50 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIP 100.00 1 Part of Custom Onco-endocrino panel
    ALK 100.00 1 Part of Custom Onco-endocrino panel
    ARMC5 100.00 1 Part of Custom Onco-endocrino panel
    AXIN2 100.00 1 Part of Custom Onco-endocrino panel
    BAP1 100.00 1 Part of Custom Onco-endocrino panel
    CDK4 100.00 1 Part of Custom Onco-endocrino panel
    CDKN1B 100.00 1 Part of Custom Onco-endocrino panel
    CDKN2A 100.00 1 Part of Custom Onco-endocrino panel
    CYLD 100.00 1 Part of Custom Onco-endocrino panel
    DNMT3A 100.00 1 Part of Custom Onco-endocrino panel
    EGLN1 100.00 1 Part of Custom Onco-endocrino panel
    EGLN2 100.00 1 Part of Custom Onco-endocrino panel
    EGLN3 100.00 1 Part of Custom Onco-endocrino panel
    EPAS1 100.00 1 Part of Custom Onco-endocrino panel
    FH 100.00 1 Part of Custom Onco-endocrino panel
    FLCN 100.00 1 Part of Custom Onco-endocrino panel
    GOT2 100.00 1 Part of Custom Onco-endocrino panel
    HIF1A 100.00 1 Part of Custom Onco-endocrino panel
    HOXB13 100.00 1 Part of Custom Onco-endocrino panel
    IDH3B 100.00 1 Part of Custom Onco-endocrino panel
    KIF1B 100.00 1 Part of Custom Onco-endocrino panel
    KIT 100.00 1 Part of Custom Onco-endocrino panel
    KMT2D 100.00 1 Part of Custom Onco-endocrino panel
    MAX 100.00 1 Part of Custom Onco-endocrino panel
    MC1R 100.00 1 Part of Custom Onco-endocrino panel
    MDH1 100.00 1 Part of Custom Onco-endocrino panel
    MDH2 100.00 1 Part of Custom Onco-endocrino panel
    MEN1 100.00 1 Part of Custom Onco-endocrino panel
    MERTK 100.00 1 Part of Custom Onco-endocrino panel
    MET 100.00 1 Part of Custom Onco-endocrino panel
    MITF 100.00 1 Part of Custom Onco-endocrino panel
    NF1 100.00 1 Part of Custom Onco-endocrino panel
    PDGFRA 100.00 1 Part of Custom Onco-endocrino panel
    PHOX2B 100.00 1 Part of Custom Onco-endocrino panel
    POT1 100.00 1 Part of Custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of Custom Onco-endocrino panel
    PTCH1 100.00 1 Part of Custom Onco-endocrino panel
    PTCH2 100.00 1 Part of Custom Onco-endocrino panel
    RB1 100.00 1 Part of Custom Onco-endocrino panel
    RET 100.00 1 Part of Custom Onco-endocrino panel
    SDHA 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF1 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF2 100.00 1 Part of Custom Onco-endocrino panel
    SDHAF3 100.00 1 Part of Custom Onco-endocrino panel
    SDHB 100.00 1 Part of Custom Onco-endocrino panel
    SDHC 100.00 1 Part of Custom Onco-endocrino panel
    SDHD 100.00 1 Part of Custom Onco-endocrino panel
    SUFU 100.00 1 Part of Custom Onco-endocrino panel
    TMEM127 100.00 1 Part of Custom Onco-endocrino panel
    VHL 100.00 1 Part of Custom Onco-endocrino panel
  • Overgrowth & vascular anomalies (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • Sturge-Weber syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 0.00 0 Only hotspots in the gene
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    APC 0.00 0 Only hotspots in the gene
    ATM 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    BRCA1 0.00 0 Only hotspots in the gene
    BRCA2 0.00 0 Only hotspots in the gene
    CDH1 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CSF1R 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    DNMT3A 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB3 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    EZH2 0.00 0 Only hotspots in the gene
    FBXW7 0.00 0 Only hotspots in the gene
    FGFR1 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    FLT3 0.00 0 Only hotspots in the gene
    FOXL2 0.00 0 Only hotspots in the gene
    GNA11 0.00 0 Only hotspots in the gene
    GNAQ 0.00 0 Only hotspots in the gene
    GNAS 0.00 0 Only hotspots in the gene
    HNF1A 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    JAK2 0.00 0 Only hotspots in the gene
    JAK3 0.00 0 Only hotspots in the gene
    KDR 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    MLH1 0.00 0 Only hotspots in the gene
    MPL 0.00 0 Only hotspots in the gene
    MSH6 0.00 0 Only hotspots in the gene
    MTOR 0.00 0 Only hotspots in the gene
    NF1 0.00 0 Only hotspots in the gene
    NF2 0.00 0 Only hotspots in the gene
    NOTCH1 0.00 0 Only hotspots in the gene
    NPM1 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTCH1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    PTPN11 0.00 0 Only hotspots in the gene
    RB1 0.00 0 Only hotspots in the gene
    RET 0.00 0 Only hotspots in the gene
    SMAD4 0.00 0 Only hotspots in the gene
    SMARCB1 0.00 0 Only hotspots in the gene
    SMO 0.00 0 Only hotspots in the gene
    SRC 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene
    TERT 0.00 0 Only hotspots in the gene
    TP53 0.00 0 Only hotspots in the gene
    TSC1 0.00 0 Only hotspots in the gene
    VHL 0.00 0 Only hotspots in the gene
  • epidermal nevus syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    H3-3A 0.00 0 Only hotspots in the gene
    H3C2 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene