Extreme early-onset hypertension
Gene: AGTR1

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.

Created: 25 Jul 2016, 2:28 p.m.

Panel version: 0.80

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

Created: 20 Jun 2016, 6:09 a.m.

Panel version: 0.77

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