Groopman et al 2019 - Genes with diagnostic variantsGene: COL11A1
From Groopman et al 2019 Table S7. Gene symbol: COL11A1; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Stickler syndrome type II; OMIM phenotype MIM No.: 604841; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Source Expert Review Red was added to COL11A1.
gene: COL11A1 was added gene: COL11A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL11A1 were set to Stickler syndrome type II; Congenital or cystic renal disease; MIM 604841