1. Genes and Genomic Entities
  2. GLRA2

GLRA2

glycine receptor alpha 2
OMIM: 305990, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green GLRA2 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.192
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076
    Green GLRA2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.397
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076
    • intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772
    Tags
    • Autism Spectrum Disorder