Groopman et al 2019 - Genes with diagnostic variantsGene: UMOD
From Groopman et al 2019 Table S7. Gene symbol: UMOD; Inheritance AD; Clinical diagnosis: Congenital or cystic renal disease; Glomerulopathy; Hypertensive nephropathy; Nephropathy of unknown origin; Tubulointerstitial disease; Genetic diagnosis: Autosomal dominant tubulointerstitial kidney disease, UMOD-associated; OMIM phenotype MIM no.:609886,162000,603860:Number of cases: 9
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 UMOD. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: UMOD was added gene: UMOD was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UMOD were set to Tubulointerstitial disease; Hypertensive nephropathy; 162000; Congenital or cystic renal disease; 603860; Nephropathy of unknown origin; Autosomal dominant tubulointerstitial kidney disease, UMOD-associated; Glomerulopathy; MIM 609886