Groopman et al 2019 - Genes with diagnostic variantsGene: COL4A3
From Groopman et al 2019 Table S7. Gene symbol: COL4A3; Inheritance: AD and AR; Clinical diagnosis: Congenital or cystic renal disease; Glomerulopathy; Hypertensive nephropathy; Nephropathy of unknown origin; Genetic diagnosis:Alport syndrome, autosomal dominant/recessive; Thin basement membrane disease; OMIM phenotype MIM no.: 104200, 203780, 141200; Number of cases: 27 (2 compound het, 1 homozygous, 24 heterozygous)
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 COL4A3. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: COL4A3 was added gene: COL4A3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A3 were set to Hypertensive nephropathy; MIM 104200, 203780; Congenital or cystic renal disease; Nephropathy of unknown origin; Glomerulopathy; Thin basement membrane disease; Alport syndrome, autosomal dominant/recessive; 141200