Paediatric disorders - additional genes
Gene: RENEnsemblGeneIds (GRCh38): ENSG00000143839
EnsemblGeneIds (GRCh37): ENSG00000143839
OMIM: 179820, Gene2Phenotype
REN is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
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 Green
- Other
- Phenotypes
-
- CAKUT
- [Hyperproreninemia]
- Hyperuricemic nephropathy, familial juvenile 2, 613092
- Renal tubular dysgenesis, 267430
- OMIM
- 179820
- Clinvar variants
- Variants in REN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: REN.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to REN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ren has been classified as Amber List (Moderate Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: REN were set to
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
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
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ren has been classified as Amber List (Moderate Evidence).
Added Tag
Rebecca Foulger (Genomics England curator)Tag for-review tag was added to gene: REN.
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