Renal and urinary tract disorders
Gene: RENEnsemblGeneIds (GRCh38): ENSG00000143839
EnsemblGeneIds (GRCh37): ENSG00000143839
OMIM: 179820, Gene2Phenotype
REN is in 7 panels
4 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Renal Tubular Dysgenesis
- [Hyperproreninemia]
- Hyperuricemic nephropathy, familial juvenile 2613092
- Renal tubular dysgenesis 267430
- OMIM
- 179820
- Clinvar variants
- Variants in REN
- Penetrance
- None
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: REN were changed from Renal Tubular Dysgenesis; [Hyperproreninemia]; Renal tubular dysgenesis 613092; Renal tubular dysgenesis 267430; 613092 to Renal Tubular Dysgenesis; [Hyperproreninemia]; Hyperuricemic nephropathy, familial juvenile 2613092; Renal tubular dysgenesis 267430
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes [Hyperproreninemia]; 613092; Renal tubular dysgenesis 613092; Renal tubular dysgenesis 267430 for gene: REN
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: REN was added gene: REN was added to Renal and urinary tract disorders. 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; [Hyperproreninemia]