Groopman et al 2019 - Genes with diagnostic variantsGene: SEC61A1
From Groopman et al 2019 Table S7. Gene symbol: SEC61A1; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Hyperuricemic nephropathy familial juvenile 4; OMIM phenotype MIM No.: 617056; 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 SEC61A1.
gene: SEC61A1 was added gene: SEC61A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEC61A1 were set to Congenital or cystic renal disease; MIM 617056; Hyperuricemic nephropathy familial juvenile 4