CAKUT

Gene: AGTR1

Green List (high evidence)

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

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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.

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

AGTR1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AGTR1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen