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| Diabetes Insipidus v1.1 | AVPR2 | Zornitza Stark Marked gene: AVPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v1.1 | AVPR2 | Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v1.1 | AVPR2 |
Zornitza Stark Tag treatable tag was added to gene: AVPR2. Tag clinical trial tag was added to gene: AVPR2. |
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| Diabetes Insipidus v1.1 | AVPR2 | Zornitza Stark reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v0.2 | AVPR2 | Bryony Thompson Classified gene: AVPR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v0.2 | AVPR2 | Bryony Thompson Gene: avpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diabetes Insipidus v0.1 | AVPR2 |
Bryony Thompson gene: AVPR2 was added gene: AVPR2 was added to Diabetes Insipidus. Sources: Expert list SV/CNV tags were added to gene: AVPR2. Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AVPR2 were set to 1356229; 20301356; 27156763 Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic MIM#304800 Review for gene: AVPR2 was set to GREEN gene: AVPR2 was marked as current diagnostic Added comment: Well-established cause of nephrogenic diabetes insipidus (most common cause). ~10% of disease-causing variants are large deletions. females are unlikely to be affected, but heterozygous females can exhibit variable degrees of polyuria and polydipsia because of skewed X chromosome inactivation Sources: Expert list |
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