Pulmonary Arterial Hypertension
Gene: AQP1

AQP1 (aquaporin 1 (Colton blood group))
EnsemblGeneIds (GRCh38): ENSG00000240583
EnsemblGeneIds (GRCh37): ENSG00000240583
OMIM: 107776, Gene2Phenotype
AQP1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

Created: 8 Aug 2023, 5:47 a.m.
Last Modified: 8 Aug 2023, 5:47 a.m.
Panel version: 1.24

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

Created: 27 Jan 2020, 11:12 p.m.
Last Modified: 27 Jan 2020, 11:12 p.m.
Panel version: 0.20

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Expert list

Phenotypes

Pulmonary arterial hypertension MONDO:0015924, AQP1-related

OMIM

107776

Clinvar variants

Variants in AQP1

Penetrance

None

Publications

Panels with this gene