Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: ANGPT1

Comment 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

• 28601681
• 30689269

I don't know

Sources: Literature

Created: 31 Jan 2022, 4:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary Angioedema

Publications

• 28601681