Hereditary angioedema
Gene: ANGPT1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary angioedema-5 (HAE5), MIM#619361
A missense variant (A119S) identified in 4 affected individuals in a single family. Supportive data in patient cells, functional assays of the variant, and animal models (both overexpression and null) for the gene.
Sources: OtherCreated: 26 Feb 2021, 5:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary angioedema
Publications
Gene: angpt1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ANGPT1 were changed from Hereditary angioedema to Hereditary angioedema-5 (HAE5), MIM#619361
Gene: angpt1 has been classified as Amber List (Moderate Evidence).
gene: ANGPT1 was added gene: ANGPT1 was added to Hereditary angioedema. Sources: Other Mode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANGPT1 were set to 28601681; 24852101; 30689269; 10617467; 8980224 Phenotypes for gene: ANGPT1 were set to Hereditary angioedema Review for gene: ANGPT1 was set to AMBER