GLRA1

glycine receptor alpha 1
OMIM: 138491, Gene2Phenotype

14 panels

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

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

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 1.80

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


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

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 1.617

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 - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.524
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 with onset in adulthood


    Version 4.31
    Latest signed off version: v4.0 (22 Mar 2023)

    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 Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    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


    Version 3.44
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Hyperekplexia, hereditary 1, 149400
    Green GLRA1 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperekplexia 1, 149400