Renal tubulopathies

Gene: AQP2

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

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

• 8140421
• 7524315
• 9048343
• 9649557
• 9302264
• 9745427
• 11929850
• 12050236
• 15509592