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Fetal anomalies

Gene: REN

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios.
Created: 5 Jan 2022, 7:21 a.m. | Last Modified: 5 Jan 2022, 7:21 a.m.
Panel Version: 0.1862

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis, MIM#267430

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

PMID: 16116425 reports seven individuals belonging to four families with REN variants; loss-of-function variants were identified in three of the families.

PMID: 22095942; eleven different mutations in the REN gene have been identified in 10 families, seven of which have been previously published. Most variants were loss-of-function, however three different non-truncating variants (missense or single amino acid deletion) were observed, with accumulation of mutant renin in the kidney.
Created: 5 Jan 2022, 6:16 a.m. | Last Modified: 5 Jan 2022, 6:16 a.m.
Panel Version: 0.1849

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis, MIM#267430

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Renal tubular dysgenesis, MIM#267430
OMIM
179820
Clinvar variants
Variants in REN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ren has been classified as Green List (High Evidence).

5 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: REN were changed from Renal tubular dysgenesis 267430 to Renal tubular dysgenesis, MIM#267430

5 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: REN were set to 31736371

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: REN was added gene: REN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REN were set to 31736371 Phenotypes for gene: REN were set to Renal tubular dysgenesis 267430