Renal Tubulointerstitial Disease
Gene: REN

REN (renin)
EnsemblGeneIds (GRCh38): ENSG00000143839
EnsemblGeneIds (GRCh37): ENSG00000143839
OMIM: 179820, Gene2Phenotype
REN is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More severe phenotype associated with variants that are located in the protein leader peptide and affecting its co-translational insertion in the endoplasmic reticulum (ER).
Created: 22 Jul 2020, 9:28 p.m. | Last Modified: 22 Jul 2020, 9:28 p.m.

Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant tubulointerstitial disease

Publications

Created: 22 Jul 2020, 9:28 p.m.
Last Modified: 22 Jul 2020, 9:28 p.m.
Panel version: 0.16

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
KidGen_Tubulointerstitial v38.1.0

Phenotypes

Autosomal dominant tubulointerstitial disease

OMIM

179820

Clinvar variants

Variants in REN

Penetrance

None

Publications

Panels with this gene