Monogenic nephrogenic diabetes insipidus
Gene: AQP2
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added the 'treatable' tag 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).Created: 10 May 2017, 7:36 a.m.
>3 unrelated cases/families reported (see publications). Majority of variants reported are missense.Created: 26 Apr 2017, 9:42 a.m.
Comment on mode of inheritance: Found evidence of both monoallelic and biallelic inheritance. OMIM 107777Created: 7 Apr 2017, 9:13 a.m.
Ready for use in tiering
This gene has been classified as Green List (High Evidence).
Publications for AQP2 were set to 8140421;7524315;9048343;9649557;9302264;9745427;11929850;12050236;15509592
AQP2 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: UKGTN
AQP2 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: UKGTN
Mode of inheritance for AQP2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
AQP2 was added to monogenic nephrogenic diabetes insipiduspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene AQP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
AQP2 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: Radboud University Medical Center, Nijmegen
AQP2 was created by oniblock