Pulmonary Arterial Hypertension
Gene: AQP1
Only missense variants reported to date. Rated LIMITED by ClinGen but note further case reports since curation, describing three additional families.Created: 8 Aug 2023, 5:47 a.m. | Last Modified: 8 Aug 2023, 5:47 a.m.
Panel Version: 1.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Publications
Two missense variants have been identified in three families segregating dominantly with pulmonary arterial hypertension. Functional studies using siRNA to knockdown AQP1 in pulmonary arterial smooth muscle cells, demonstrated prevented hypoxia-induced migration of these cells.Created: 27 Jan 2020, 11:12 p.m. | Last Modified: 27 Jan 2020, 11:12 p.m.
Panel Version: 0.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary arterial hypertension
Publications
Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension MONDO:0015924, AQP2-related to Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, AQP2-related
Publications for gene: AQP1 were set to 22683574; 29650961
Gene: aqp1 has been classified as Amber List (Moderate Evidence).
Gene: aqp1 has been classified as Green List (High Evidence).
Publications for gene: AQP1 were set to
Gene: aqp1 has been classified as Green List (High Evidence).
gene: AQP1 was added gene: AQP1 was added to Pulmonary Arterial Hypertension. Sources: Expert list Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AQP1 were set to Pulmonary arterial hypertension