Renal tubulopathies

Gene: AQP2

Green List (high evidence)

AQP2 (aquaporin 2)
EnsemblGeneIds (GRCh38): ENSG00000167580
EnsemblGeneIds (GRCh37): ENSG00000167580
OMIM: 107777, Gene2Phenotype
AQP2 is in 6 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: AQP2; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Nephrogenic diabetes insipidus; MIM 125800

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to Green.
Created: 22 Nov 2018, 12:49 p.m.
Added this gene from the Monogenic nephrogenic diabetes insipidus (Version 1.8, code 18) gene panel, after request from the Genomics England Clinical Team. There are >3 unrelated cases/families reported (see publications), and the majority of variants reported are missense. The 'treatable' tag was added due to information available on Orphanet regarding Nephrogenic diabetes insipidus: "Patients should receive a low salt diet with limited potassium and protein intake and take thiazide diuretics in combination with indomethacin. This treatment has changed the life of affected patients, especially infants." summary reviewed by : Dr Patrick NIAUDET - Last update: February 2007 (http://www.orpha.net).
Sources: Other
Created: 22 Nov 2018, 12:48 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes insipidus, nephrogenic, 125800

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic diabetes insipidus
Tags
treatable
OMIM
107777
Clinvar variants
Variants in AQP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: AQP2 were changed from Diabetes insipidus, nephrogenic, 125800 to Diabetes insipidus, nephrogenic, 125800; Nephrogenic diabetes insipidus

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to AQP2. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: aqp2 has been classified as Green List (High Evidence).

22 Nov 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: AQP2 was added gene: AQP2 was added to Renal tubulopathies. Sources: Other treatable tags were added to gene: AQP2. Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AQP2 were set to 8140421; 7524315; 9048343; 9649557; 9302264; 9745427; 11929850; 12050236; 15509592 Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800