Tubulointerstitial kidney disease
Gene: REN

REN (renin)
EnsemblGeneIds (GRCh38): ENSG00000143839
EnsemblGeneIds (GRCh37): ENSG00000143839
OMIM: 179820, Gene2Phenotype
REN is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Updated MOI to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" after discussion in meeting with NHS GMS renal specialist group on 2019-02-04
Created: 12 Feb 2019, 4:07 p.m.

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:REN;Suggested initial gene rating: Green;Evidence for inclusion: AD for HNFJ2, AR for renal tubular dysgenesis;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Familial juvenile Hyperuricemic nephropathy-2 MIM 613092; Renal tubular dysgenesis MIM 267430

Publications

Zivna et al 2009 PMID: 19664745
Gribouval et al 2005 PMID: 16116425

Created: 2 Feb 2019, 12:48 a.m.

Panel version: 0.3

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Renal tubular dysgenesis MIM 267430
Familial juvenile Hyperuricemic nephropathy-2 MIM 613092

OMIM

179820

Clinvar variants

Variants in REN

Penetrance

None

Publications

Panels with this gene

History Filter Activity

12 Feb 2019, Gel status: 4

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: REN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

2 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: REN was added gene: REN was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: REN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: REN were set to 16116425; 19664745 Phenotypes for gene: REN were set to Renal tubular dysgenesis MIM 267430; Familial juvenile Hyperuricemic nephropathy-2 MIM 613092

Tubulointerstitial kidney disease Gene: REN