Pulmonary Arterial Hypertension

Gene: AQP1

Amber List (moderate evidence)

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

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

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

History Filter Activity

8 Aug 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension MONDO:0015924, AQP2-related to Pulmonary arterial hypertension MONDO:0015924, AQP1-related

8 Aug 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, AQP2-related

8 Aug 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AQP1 were set to 22683574; 29650961

8 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aqp1 has been classified as Amber List (Moderate Evidence).

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aqp1 has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AQP1 were set to

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aqp1 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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