AGTR2

angiotensin II receptor type 2
OMIM: 300034, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red AGTR2 in ClinGen Gene Validity Curations


Version 0.65

review 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
Red AGTR2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
No list AGTR2 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Removed
    • DD-Gene2Phenotype
    Phenotypes
    • X-LINKED MENTAL RETARDATION 88 290909
    Tags
    • curated_removed
    Red AGTR2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mental retardation, X-linked 88, 300852
    • X-LINKED MENTAL RETARDATION 88