Groopman et al 2019 - Genes with diagnostic variantsGene: PKD1
From Groopman et al 2019 Table S7. Gene symbol: PKD1; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Nephropathy of unknown origin; Genetic diagnosis: Polycystic kidney disease 1; OMIM phenotype MIM no.:173900; Number of cases: 75
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Source Expert Review Green was added to PKD1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PKD1 was added gene: PKD1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKD1 were set to Congenital or cystic renal disease; Nephropathy of unknown origin; Polycystic kidney disease 1; MIM 173900