Paediatric disorders - additional genes
Gene: AGTR1The 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 for now. Plenty of literature suggesting links between AGTR1 polymorphisms and disease risk for e.g. pulmonary arterial hypertension (e.g. PMID:25603901) but key congenital disorder seems to be renal dysgenesis (PMID:16116425).Created: 14 May 2020, 1:54 p.m. | Last Modified: 14 May 2020, 1:54 p.m.
Panel Version: 1.32
PMID:16116425. Gribouval et al. 2005 studied 9 families (11 indivs) with AR renal tubular dysgenesis, and found variants in REN, AGT, ACE or AGTR1.Created: 14 May 2020, 1:47 p.m. | Last Modified: 14 May 2020, 1:47 p.m.
Panel Version: 1.31
Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.Created: 12 May 2020, 4:15 p.m. | Last Modified: 12 May 2020, 4:15 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: AGTR1.
Source Expert Review Green was added to AGTR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: agtr1 has been classified as Amber List (Moderate Evidence).
Gene: agtr1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: AGTR1.
gene: AGTR1 was added gene: AGTR1 was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to CAKUT; Hypertension, essential, 145500; Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430