GRIA1

glutamate ionotropic receptor AMPA type subunit 1
OMIM: 138248, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber GRIA1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Green GRIA1 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GRIA1-related neurodevelopmental disorder
    Tags
    • de novo
    Green GRIA1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 67, OMIM:619927
    • ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
    Tags
    • watchlist_moi