GYG1

glycogenin 1
OMIM: 603942, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red GYG1 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease XV, 613507
  • Glycogen Storage Disease

Green GYG1 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.57
Latest signed off version: v1.34 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • UKGTN
    Phenotypes
    • ?Glycogen storage disease XV 613507
    • Polyglucosan body myopathy 2 616199

    Green GYG1 in Neuromuscular disorders


    Version 5.241
    Latest signed off version: v5.43 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease XV,613507
    • Polyglucosan body myopathy 2, 616199

    Green GYG1 in Glycogen storage disease


    Version 1.7
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease XV 613507

    Red GYG1 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.29
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Glycogen storage disease XV, 613507

    Green GYG1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • ?Glycogen storage disease XV 613507
    • Polyglucosan body myopathy 2 616199

    Green GYG1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Glycogen storage disease XV

    Red GYG1 in Childhood onset dystonia or chorea or related movement disorder


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

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green GYG1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polyglucosan body myopathy 2, 616199
    • ?Glycogen storage disease XV, 613507