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Prepair 1000+

Gene: REN

Green List (high evidence)

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

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

From Babyscreen panel:
Established gene-disease association.

Bi-allelic LOF variants cause renal tubular dysgenesis, which presents as fetal anuria leading to perinatal death.. Mono-allelic variants, likely through a different mechanism (mostly missense) cause tubulointerstitial disease. 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).

No specific treatment for either.

Gene profile:
Bi-allelic LOF variants that cause a complete loss of renin synthesis are associated with renal tubular dysgenesis, a rare recessive condition characterised by perinatal mortality (PMID: 16116425, PMID: 37283036)

Dominant variants reported to date are non-truncating, missense changes (and 1 in-frame deletion), leading to renal tubulointerstitial damage and progressive chronic kidney disease (PMID: 28701203, PMID: 31406136, PMID: 32750457, PMID: 37283036). Age of onset was found to correlate with protein location, signal group patients were most severely affected, presenting at a mean age of 19.7 years (1/3 before the age of 10), with the prosegment group presenting at 22.4 years, and the mature group at 37 years. Pathogenic missense variants are predominantly reported in the signal peptide domain 62%, 24% in the prosegment, and 14% in the mature renin peptide (PMID: 32750457).
Created: 25 Oct 2024, 5:16 a.m. | Last Modified: 25 Oct 2024, 5:16 a.m.
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular dysgenesis MIM#267430

Details

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

History Filter Activity

30 Oct 2024, 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).

30 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: REN were changed from Renal tubular dysgenesis, 267430 (3) to Renal tubular dysgenesis MIM#267430

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: REN was added gene: REN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal tubular dysgenesis, 267430 (3)