Groopman et al 2019 - Genes with diagnostic variantsGene: AVP
From Groopman et al 2019 Table S7. Gene symbol: AVP; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Nephropathy of unknown origin; Genetic diagnosis: Diabetes insipidus, neurohypophyseal; OMIM phenotype MIM no.:125700; Number of cases:2
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Source Expert Review Amber was added to AVP. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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