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Unexplained young onset end-stage renal disease v3.21 AQP2 Achchuthan Shanmugasundram reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, 125800, Nephrogenic diabetes insipidus; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.17 AQP2 Achchuthan Shanmugasundram gene: AQP2 was added
gene: AQP2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, 125800