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Mendeliome

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, 5:50 a.m. | Last Modified: 8 Aug 2023, 5:50 a.m.
Panel Version: 1.1089

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary arterial hypertension MONDO:0015924, AQP1-related

Publications

Elena Savva (Victorian Clinical Genetics Services)

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: 6 May 2022, 6:43 a.m. | Last Modified: 6 May 2022, 6:43 a.m.
Panel Version: 0.13875

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
  • Victorian Clinical Genetics Services
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 to Pulmonary arterial hypertension MONDO:0015924, AQP1-related

8 Aug 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AQP1 were set to PMID: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).

6 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension

6 May 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: AQP1 were set to PMID:22683574; 29650961

6 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AQP1 were changed from to Pulmonary arterial hypertension

6 May 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: AQP1 were set to

6 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

6 May 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: AQP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AQP1 was added gene: AQP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AQP1 was set to Unknown