Groopman et al 2019 - Genes with diagnostic variantsGene: COL4A5
From Groopman et al 2019 Table S7. Gene symbol: COL4A5; Inheritance: X-linked (hemizygous in males, heterozygous in females); Clinical diagnosis: Congenital or cystic renal disease; Glomerulopathy; Nephropathy of unknown origin; Genetic diagnosis: Alport syndrome, X-linked; OMIM phenotype MIM no.: 301050:Number of cases: 44
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 COL4A5. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: COL4A5 was added gene: COL4A5 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: COL4A5 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: COL4A5 were set to MIM 301050; Congenital or cystic renal disease; Nephropathy of unknown origin; Alport syndrome, X-linked; Glomerulopathy