1. Genes and Genomic Entities
  2. GLRA1

GLRA1

glycine receptor alpha 1
OMIM: 138491, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green GLRA1 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Green GLRA1 in Brain channelopathy

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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
Green GLRA1 in Paroxysmal central nervous system disorders


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 1, 149400
Red GLRA1 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 BOTH monoallelic and 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, hereditary 1, 149400
    Green GLRA1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Hyperekplexia, hereditary 1, 149400
    Green GLRA1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Hyperekplexia, hereditary 1, 149400
    Green GLRA1 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GLRA1-related hyperexplexia, biallelic, OMIM:149400
    • GLRA1-related hyperexplexia, monoallelic, OMIM:149400
    Amber GLRA1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Expert
    Phenotypes
    • Hyperekplexia, hereditary 1, 149400
    • Hyperekplexia
    • developmental delay
    • infantile spasms and generalized tonic-clonic seizures
    Red GLRA1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Hyperekplexia
    • developmental delay
    • infantile spasms and generalized tonic-clonic seizures
    Green GLRA1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Brain channelopathy v1.46
    Phenotypes
    • Hyperekplexia 1, 149400
    • Hyperekplexia, hereditary 1, 149400
    Red GLRA1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hyperekplexia, hereditary 1, 149400
    Red GLRA1 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.7
    Latest signed off version: v8.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • London South GLH
    Phenotypes
    • Hyperekplexia, hereditary 1, 149400
    Green GLRA1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Hyperekplexia, hereditary 1, 149400