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 4.3
Latest signed off version: v4.0 (30 Apr 2025)

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 Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.21
Latest signed off version: v8.0 (30 Apr 2025)

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 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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 8.176
    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 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 with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

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


    Level 2: Neurology
    Version 7.20
    Latest signed off version: v7.0 (30 Apr 2025)

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