Unexplained young onset end-stage renal disease
Gene: REN
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least four variants reported in Renal tubular dysgenesis 267430, two in Hyperuricemic nephropathy, familial juvenile 2 613092 and one in HyperproreninemiaCreated: 5 Aug 2016, 9:36 a.m.
Comment on mode of inheritance: Renal tubular dysgenesis = autosomal recessive, hyperuricemic nephropathy = autosomal dominant (Source: OMIM).Created: 29 Mar 2016, 10:27 a.m.
Comment on list classification: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:23 a.m.
gene: REN was added gene: REN was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: REN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal Tubular Dysgenesis; Renal tubular dysgenesis 267430; [Hyperproreninemia]; Hyperuricemic nephropathy, familial juvenile 2613092