Extreme early-onset hypertension

Gene: AGTR1

Red List (low evidence)

AGTR1 (angiotensin II receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000144891
EnsemblGeneIds (GRCh37): ENSG00000144891
OMIM: 106165, Gene2Phenotype
AGTR1 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: The single variant (rs rs5186) reported to be associated with essential Hypertension (OMIM 145500) is in the 3' UTR, has a MAF >0.1, correlation with conflicting reports about whether or not relevant for this phenotype. LOF variants reported for Renal tubular dysgenesis (OMIM 267430), which has the clinical feature of extreme hypotension.
Created: 25 Jul 2016, 2:28 p.m.

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
renal tubular dysgenesis; hypertension

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypertension, essential, 145500
  • Renal tubular dysgenesis, 267430
OMIM
106165
Clinvar variants
Variants in AGTR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

25 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AGTR1 were set to 8021009; 16116425; 23942655; 25603901

25 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AGTR1 were set to Hypertension, essential, 145500; Renal tubular dysgenesis, 267430

25 Jul 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for AGTR1 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

AGTR1 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen