Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ANGPT1Comment on list classification: To date only a single family has been reported but with several lines of evidence such as multigenerational segregation and functional data that provides a plausible mechanism of disease. At least one more case is needed to corroborate this gene-disease association, and therefore Rating Amber with a watchlist tag in anticipation of further cases emerging.Created: 18 Jul 2022, 10:25 a.m. | Last Modified: 18 Jul 2022, 10:25 a.m.
Panel Version: 2.560
Bafunno et al., (2018) identified a heterozygous ANGPT1 p.A119S variant in a family with four women affected by angioedema. The variant segregated with the disorder and was not found in any asymptomatic family members. Functional studies of the mutant protein product revealed a reduction of multimeric forms compared to wildtype and reduced membrane receptor binding capability. d'Apolito et al., (2019) also later demonstrated that the A119S variant affects endothelial barrier permeability using an in vitro model.Created: 18 Jul 2022, 10:19 a.m. | Last Modified: 18 Jul 2022, 10:19 a.m.
Panel Version: 2.559
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angioedema, hereditary, 5, OMIM:61936
Publications
Sources: LiteratureCreated: 31 Jan 2022, 4:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Angioedema
Publications
Gene: angpt1 has been classified as Amber List (Moderate Evidence).
Publications for gene: ANGPT1 were set to 28601681
Tag watchlist tag was added to gene: ANGPT1.
Phenotypes for gene: ANGPT1 were changed from Hereditary Angioedema to Angioedema, hereditary, 5, OMIM:619361
gene: ANGPT1 was added gene: ANGPT1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ANGPT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANGPT1 were set to 28601681 Phenotypes for gene: ANGPT1 were set to Hereditary Angioedema Penetrance for gene: ANGPT1 were set to unknown Review for gene: ANGPT1 was set to AMBER