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  2. Unexplained kidney failure in young people
  3. AGTR1
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Unexplained kidney failure in young people

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least four variants reported
Created: 4 Aug 2016, 10:09 a.m.
Comment on phenotypes: Also associated with Hypertension, essential, 145500
Created: 4 Aug 2016, 10:09 a.m.
Created: 4 Aug 2016, 10:09 a.m.

Panel version: 0.157

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Renal tubular dysgenesis, 267430
OMIM
106165
Clinvar variants
Variants in AGTR1
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AGTR1 were set to Renal tubular dysgenesis, 267430

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Aug 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

AGTR1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN

4 Aug 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

AGTR1All sources for gene: AGTR1 were removed

27 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

AGTR1 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Green

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

AGTR1 was created by sleigh