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Unexplained young onset end-stage renal disease v4.3 | AVPR2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: AVPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v4.3 | AVPR2 | Arina Puzriakova reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v4.2 | AVPR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AVPR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Unexplained young onset end-stage renal disease v3.21 | AVPR2 | Achchuthan Shanmugasundram reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539, Diabetes insipidus, nephrogenic, OMIM:304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v3.17 | AVPR2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: AVPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v3.17 | AVPR2 |
Achchuthan Shanmugasundram gene: AVPR2 was added gene: AVPR2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539; Diabetes insipidus, nephrogenic, OMIM:304800 Mode of pathogenicity for gene: AVPR2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |