CAKUT
Gene: AGTR1

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

3 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green as two reviewers in agreement.
Created: 29 Mar 2016, 10:20 a.m.

Created: 29 Mar 2016, 10:20 a.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Renal Tubular Dysgenesis
Hypertension, essential, 145500
Renal tubular dysgenesis, 267430

OMIM

106165

Clinvar variants

Variants in AGTR1

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: AGTR1 were changed from Renal Tubular Dysgenesis; Hypertension, essential, 145500Renal tubular dysgenesis, 267430 to Renal Tubular Dysgenesis; Hypertension, essential, 145500; Renal tubular dysgenesis, 267430

29 Mar 2016, Gel status: 4