GLRA1

glycine receptor alpha 1
OMIM: 138491, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GLRA1 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 1, MIM# 149400

    Green GLRA1 in Mendeliome


    Version 1.1891

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 1, MIM# 149400

    Green GLRA1 in Neurotransmitter Defects


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 1, MIM# 149400

    Red GLRA1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Hyperekplexia 1, MIM# 149400

    Green GLRA1 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Children's Hospital Neurology Department
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperekplexia 1, MIM# 149400

    Red GLRA1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

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

    Green GLRA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hyperekplexia, hereditary 1, autosomal dominant or recessive

    Green GLRA1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400
    Tags
    • treatable
    • neurological