GLRA2

glycine receptor alpha 2
OMIM: 305990, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red GLRA2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green GLRA2 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0 (1 May 2024)

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.12
    Latest signed off version: v6.0 (1 May 2024)

    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