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 1.15

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 1.60

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 1.17
Latest signed off version: v1.2 (27 Feb 2020)

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


Version 2.200
Latest signed off version: v2.178 (5 Aug 2021)

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 1.486

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 Inborn errors of metabolism


Version 2.187
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Hyperekplexia, hereditary 1, 149400

    Amber GLRA1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 2.88
    Latest signed off version: v2.13 (6 Oct 2020)

    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 movement disorder


    Version 1.123
    Latest signed off version: v1.121 (5 Aug 2021)

    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 Cardiomyopathies - including childhood onset


    Version 1.56
    Latest signed off version: v1.4 (19 Feb 2020)

    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 or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    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 1.84

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