This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: AGTR2
AGTR2 (angiotensin II receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000180772
EnsemblGeneIds (GRCh37): ENSG00000180772
OMIM: 300034, Gene2Phenotype
AGTR2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000180772
EnsemblGeneIds (GRCh37): ENSG00000180772
OMIM: 300034, Gene2Phenotype
AGTR2 is in 2 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as LIMITED by calculated classification (date not given) and DISPUTED by Expert curation. "Disputed" classification was based on Pitton et al. 2013 and ExAC data (dated 11/16/16). Available here: https://search.clinicalgenome.org/kb/gene-validity/3218.Created: 12 Apr 2017, 1:54 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- ClinGen
- Expert Review Red
- Other
- Phenotypes
-
- X-linked non-syndromic intellectual disability
- Orphanet:777
- OMIM
- 300034
- Clinvar variants
- Variants in AGTR2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
20 Jun 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)AGTR2 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
12 Apr 2017, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
12 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)AGTR2 was created by ellenmcdonagh
12 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)AGTR2 was added to ClinGen Gene Validity Curationspanel. Sources: Other