ANGPT1:Ensemblv90

angiopoietin 1
OMIM: 601667, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ANGPT1 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Hereditary angioedema-5 (HAE5), MIM#619361

Amber ANGPT1 in Hereditary angioedema


Level 2: Immunological disorders
Version 1.11

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Hereditary angioedema-5 (HAE5), MIM#619361

    Amber ANGPT1 in Hereditary angioedema


    Level 2: Immunological disorders
    Version 2.0

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Other
    • Expert Review Amber
    Phenotypes
    • Hereditary angioedema-5 (HAE5), MIM#619361