Paediatric disorders - additional genes
Gene: RENThe 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
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
Tag for-review was removed from gene: REN.
Source Expert Review Green was added to REN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ren has been classified as Amber List (Moderate Evidence).
Publications for gene: REN were set to
Mode of inheritance for gene: REN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Gene: ren has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: REN.
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