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Groopman et al 2019 - Genes with diagnostic variants v0.4 | AVP | Eleanor Williams reviewed gene: AVP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Groopman et al 2019 - Genes with diagnostic variants v0.3 | AVP |
Eleanor Williams Source Expert Review Amber was added to AVP. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Groopman et al 2019 - Genes with diagnostic variants v0.2 | AVP |
Eleanor Williams gene: AVP was added gene: AVP was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AVP were set to MIM 125700; Congenital or cystic renal disease; Nephropathy of unknown origin; Diabetes insipidus, neurohypophyseal |