Paediatric disorders - additional genes

Gene: REN

Amber List (moderate evidence)

REN (renin)
EnsemblGeneIds (GRCh38): ENSG00000143839
EnsemblGeneIds (GRCh37): ENSG00000143839
OMIM: 179820, Gene2Phenotype
REN is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Amber awaiting GLH review as to whether renal phenotypes are sufficient for inclusion on the Paediatric disorders panel.
Created: 14 May 2020, 3:39 p.m. | Last Modified: 14 May 2020, 3:39 p.m.
Panel Version: 1.42
PMID:31736371. He et al., performed a study to identify the potentially pathogenic gene variants that contribute to the AR renal tubular dysgenesis (RTD) in the aborted fetus. WES was performed on an aborted fetus and his parents. Compound heterozygous variants (c.963T>A, p.Y321X and c.492+1G>A splicing site mutation) were identified in the fetus, one inherited from each parent.
Created: 14 May 2020, 3:38 p.m. | Last Modified: 14 May 2020, 3:38 p.m.
Panel Version: 1.41
Comment on mode of inheritance: Hyperuricemic nephropathy, familial juvenile 2, 613092 has AD inheritance, and Renal tubular dysgenesis, 267430 has AR inheritance.
Created: 14 May 2020, 3:27 p.m. | Last Modified: 14 May 2020, 3:27 p.m.
Panel Version: 1.40
Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Created: 12 May 2020, 4:18 p.m. | Last Modified: 12 May 2020, 4:18 p.m.
Panel Version: 1.4
Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106.
Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.
Panel Version: 1.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • CAKUT
  • [Hyperproreninemia]
  • Hyperuricemic nephropathy, familial juvenile 2, 613092
  • Renal tubular dysgenesis, 267430
Tags
for-review
OMIM
179820
Clinvar variants
Variants in REN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ren has been classified as Amber List (Moderate Evidence).

14 May 2020, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: REN were set to

14 May 2020, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: REN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

14 May 2020, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: REN were changed from CAKUT; [Hyperproreninemia]; Renal Tubular Dysgenesis to CAKUT; [Hyperproreninemia]; Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430

12 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ren has been classified as Amber List (Moderate Evidence).

12 May 2020, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag for-review tag was added to gene: REN.

12 May 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: REN was added gene: REN was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green Mode of inheritance for gene: REN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: REN were set to CAKUT; [Hyperproreninemia]; Renal Tubular Dysgenesis