1. Diseases
  2. Rendu Osler Weber

Rendu Osler Weber

Disease Export to PDF
Name:
Rendu Osler Weber
Created:
15 Oct 2019 - 14:55
Changed:
15 Oct 2019 - 14:55
  • Pulmonary Arterial Hypertension (24 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BMPR2 100.00 0
    ACVRL1 100.00 0
    ENG 100.00 0
    CAV1 100.00 0
    SMAD9 100.00 0
    KCNK3 94.00 0
    BMPR1B 100.00 0
    SMAD4 98.00 0
    EIF2AK4 100.00 0
    TBX4 95.00 0
    GDF2 100.00 0
  • Rendu/Osler/weber (4 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ENG 100.00 1 Part of constitutional vascular panel
    SMAD4 100.00 1 Part of constitutional vascular panel
    GDF2 100.00 1 Part of constitutional vascular panel
    ACVRL1 100.00 1 Part of constitutional vascular panel
  • Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (6 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACVRL1 100.00 1
    ENG 100.00 1
    SMAD4 100.00 0
    GDF2 100.00 0
    EPHB4 100.00 0
    RASA1 100.00 0
  • Vascular malformations (germline) (38 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    KRIT1 100.00 1 exons 5 - 20
    CCM2 100.00 1 exons 1 - 10
    PDCD10 100.00 1 exons 3 - 9
    RASA1 100.00 1 exons 1-25
    EPHB4 100.00 1 exons 1-17
    STAMBP 100.00 1 exons 3-11
    PTEN 100.00 1 exons 1-9
    ACVRL1 100.00 1 exons 2-10
    ENG 100.00 1 exons 1-15
    SMAD4 100.00 1 exons 2-12
    GDF2 100.00 1 exons 1-2
    TEK 100.00 1 exons 1-23
    GLMN 100.00 1 exons 2-19
    ANGPT2 100.00 1 exons 1-9
    CCBE1 100.00 1 exons 1-11
    CDC42 100.00 1 exons 2-6
    FAT4 100.00 1 exons 1-17
    FLT4 100.00 1 exons 1-30
    FOXC2 100.00 1 exon 1
    GATA2 100.00 1 exons 3-7
    GJA1 100.00 1 exon 2
    GJC2 100.00 1 exon 2
    HGF 100.00 1 exons 1-18
    HRAS 100.00 1 exons 2-5
    IKBKG 100.00 1 exons 1-10
    ITGA9 100.00 1 exons 1-28
    KIF11 100.00 1 exons 1-22
    KRAS 100.00 1 exons 1-5
    NRAS 100.00 1 exons 2-5
    PIEZO1 100.00 1 exons 1-51
    PTPN11 100.00 1 exons 1-15
    PTPN14 100.00 1 exons 2-19
    RAF1 100.00 1 exons 2-17
    SOS1 100.00 1 exons 1-23
    SOX18 100.00 1 exons 1-2
    TSC1 100.00 1 exons 3-23
    TSC2 100.00 1 exons 1-42
    VEGFC 100.00 1 exons 2-7