1. Genes and Genomic Entities
  2. GLRB

GLRB

glycine receptor beta
OMIM: 138492, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green GLRB in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperekplexia 2, 614619
Green GLRB in Paroxysmal central nervous system disorders


Level 2: Neurology
Version 4.7
Latest signed off version: v4.6 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 2 OMIM:614619
  • hyperekplexia 2 MONDO:0013828
Red GLRB in Neurodegenerative disorders, adult onset


Level 2: Neurology
Version 9.11
Latest signed off version: v9.4 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hyperekplexia 2, 614619
    Green GLRB in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GLRB-related hyperexplexia, biallelic, OMIM:614619
    • GLRB-related hyperexplexia, monoallelic
    Red GLRB in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.76
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • Expert
    Phenotypes
    • Hyperekplexia 2, 614619
    Green GLRB in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Brain channelopathy v1.46
    Phenotypes
    • Hyperekplexia 2 OMIM:614619
    • hyperekplexia 2 MONDO:0013828
    Red GLRB in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.9
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hyperekplexia 2, 614619
    Green GLRB in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PanelApp
    • London North GLH
    Phenotypes
    • Hyperekplexia 2 OMIM:614619
    • hyperekplexia 2 MONDO:0013828