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| Renal tubulopathies v1.26 | AQP2 | Eleanor Williams Phenotypes for gene: AQP2 were changed from Diabetes insipidus, nephrogenic, 125800 to Diabetes insipidus, nephrogenic, 125800; Nephrogenic diabetes insipidus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | AQP2 | Eleanor Williams reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrogenic diabetes insipidus, MIM 125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | AQP2 |
Eleanor Williams Source NHS GMS was added to AQP2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Renal tubulopathies v1.11 | AQP2 | Ellen McDonagh Classified gene: AQP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.11 | AQP2 | Ellen McDonagh Added comment: Comment on list classification: Promoted to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.11 | AQP2 | Ellen McDonagh Gene: aqp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.10 | AQP2 |
Ellen McDonagh 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 Added comment: 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). Majority of variants reported are missense. 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). Sources: Other |
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