Groopman et al 2019 - Genes with diagnostic variantsGene: CREBBP
From Groopman et al 2019 Table S7. Gene symbol: CREBBP; Inheritance: AD; Clinical diagnosis: Nephropathy of unknown origin; Congenital or cystic renal disease; Glomerulopathy; Genetic diagnosis: Rubinstein-Taybi syndrome 1; OMIM phenotype MIM no.:180849; Number of cases: 3
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 CREBBP. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CREBBP was added gene: CREBBP was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CREBBP were set to Congenital or cystic renal disease; Rubinstein-Taybi syndrome 1; Nephropathy of unknown origin; MIM 180849; Glomerulopathy