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  3. AGTR2
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Intellectual_disability

Gene: AGTR2

Red List (low evidence)
AGTR2 (angiotensin II receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000180772
EnsemblGeneIds (GRCh37): ENSG00000180772
OMIM: 300034, Gene2Phenotype
AGTR2 is in 2 panels

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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
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, X-linked 88, 300852
  • Intellectual disability
OMIM
300034
Clinvar variants
Variants in AGTR2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AGTR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AGTR2 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AGTR2 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen