1. Genes and Genomic Entities
  2. GRIA1

GRIA1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green GRIA1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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