This Panel is marked as Retired
Renal Tubular Dysgenesis
Gene: AGTR1
AGTR1 (angiotensin II receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000144891
EnsemblGeneIds (GRCh37): ENSG00000144891
OMIM: 106165, Gene2Phenotype
AGTR1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000144891
EnsemblGeneIds (GRCh37): ENSG00000144891
OMIM: 106165, Gene2Phenotype
AGTR1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported.Created: 28 Oct 2021, 9:50 p.m. | Last Modified: 28 Oct 2021, 9:50 p.m.
Panel Version: 0.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular dysgenesis, MIM# 267430
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Renal tubular dysgenesis, MIM# 267430
- OMIM
- 106165
- Clinvar variants
- Variants in AGTR1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Oct 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: agtr1 has been classified as Green List (High Evidence).
28 Oct 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AGTR1 were changed from to Renal tubular dysgenesis, MIM# 267430
28 Oct 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AGTR1 were set to
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AGTR1 was added gene: AGTR1 was added to Renal tubular dysgenesis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal