PanelApp (stage)
  1. Genes and Genomic Entities
  2. GYS1

GYS1

glycogen synthase 1
OMIM: 138570, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GYS1 in Glycogen Storage Diseases


Level 2: Metabolic disorders
Version 1.2

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease 0, muscle, MIM# 611556

    Green GYS1 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease 0, muscle, MIM# 611556

    Green GYS1 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.6

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease 0, muscle 611556