Groopman et al 2019 - Genes with diagnostic variantsGene: NPHS2
From Groopman et al 2019 Table S7. Gene symbol: NPHS2; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Glomerulopathy; Hypertensive nephropathy; Genetic diagnosis: Nephrotic syndrome type 2; OMIM phenotype MIM no.: 600995; Number of cases: 6 ((2 homozygous, 4 compound heterozygous)
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 NPHS2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NPHS2 was added gene: NPHS2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS2 were set to Nephropathy of unknown origin; Hypertensive nephropathy; Glomerulopathy; Nephrotic syndrome type 2; MIM 600995