Groopman et al 2019 - Genes with diagnostic variants
Gene: RENEnsemblGeneIds (GRCh38): ENSG00000143839
EnsemblGeneIds (GRCh37): ENSG00000143839
OMIM: 179820, Gene2Phenotype
REN is in 7 panels
1 review
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: REN; Inheritance: AD; Clinical diagnosis: Tubulointerstitial disease; Genetic diagnosis: Autosomal dominant tubulointerstitial kidney disease, REN-associated; OMIM phenotype MIM No.: 613092; Number of cases: 1Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review red
- Literature
- Phenotypes
-
- Tubulointerstitial disease
- MIM 613092
- Autosomal dominant tubulointerstitial kidney disease, REN-associated
- OMIM
- 179820
- Clinvar variants
- Variants in REN
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to REN.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: REN was added gene: REN was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: REN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: REN were set to Tubulointerstitial disease; MIM 613092; Autosomal dominant tubulointerstitial kidney disease, REN-associated