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  3. AGTR1
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Renal and urinary tract disorders

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

4 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: Imported from CAKUT panel version 0

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

Panel version: Imported from CAKUT panel version 0

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: Imported from End-stage renal disease - childhood onset panel version 0.157

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: Imported from CAKUT panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis, 267430
  • Hypertension, essential, 145500
  • Renal tubular dysgenesis, 267430
OMIM
106165
Clinvar variants
Variants in AGTR1
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Renal Tubular Dysgenesis; Hypertension, essential, 145500Renal tubular dysgenesis, 267430 for gene: AGTR1

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: AGTR1 was added gene: AGTR1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, 267430