Groopman et al 2019 - Genes with diagnostic variantsGene: OCRL
From Groopman et al 2019 Table S7. Gene symbol: OCRL; Inheritance: X-linked; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Dent disease 2; OMIM phenotype MIM No.: 300555; 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 OCRL.
gene: OCRL was added gene: OCRL was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OCRL were set to Nephropathy of unknown origin; MIM 300555; Dent disease 2