| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Diabetes Insipidus v1.1 | AQP2 |
Zornitza Stark Tag treatable tag was added to gene: AQP2. Tag clinical trial tag was added to gene: AQP2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v1.1 | AQP2 | Zornitza Stark reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v0.4 | AQP2 | Bryony Thompson Marked gene: AQP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v0.4 | AQP2 | Bryony Thompson Gene: aqp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v0.4 | AQP2 | Bryony Thompson Classified gene: AQP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v0.4 | AQP2 | Bryony Thompson Gene: aqp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v0.3 | AQP2 |
Bryony Thompson gene: AQP2 was added gene: AQP2 was added to Diabetes Insipidus. Sources: Expert list Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AQP2 were set to 7524315; 20301356; 27156763; 9649557 Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800 Review for gene: AQP2 was set to GREEN gene: AQP2 was marked as current diagnostic Added comment: Well-established cause of nephrogenic diabetes insipidus. Loss of function is the mechanism of disease for the recessive form, while the dominantly inherited form is caused by pathogenic variants with a dominant negative effect. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||