Renal tubulopathies
Gene: AQP2
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 providedCreated: 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
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: OtherCreated: 22 Nov 2018, 12:48 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes insipidus, nephrogenic, 125800
Publications
Phenotypes for gene: AQP2 were changed from Diabetes insipidus, nephrogenic, 125800 to Diabetes insipidus, nephrogenic, 125800; Nephrogenic diabetes insipidus
Source NHS GMS was added to AQP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: aqp2 has been classified as Green List (High Evidence).
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