GYS2

glycogen synthase 2
OMIM: 138571, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GYS2 in Ketotic hypoglycaemia

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • fasting intolerance without enlarged liver
  • Glycogen storage disease, type 0, 240600
  • Glycogen Storage Disease Type 0, Liver
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease

Red GYS2 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory

Green GYS2 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
  • London North GLH
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 0, liver 240600

Green GYS2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.488

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease type 0a, liver (Glycogen storage disorders)
  • fasting intolerance without enlarged liver
  • Glycogen storage disease, type 0, 240600
  • Glycogen Storage Disease Type 0, Liver
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease

Green GYS2 in Inborn errors of metabolism


Version 2.190
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
    • Glycogen Storage Disease Type 0, Liver
    • Glycogen Storage Disorders- Liver
    • Glycogen storage disease type 0a, liver (Glycogen storage disorders)
    • Glycogen storage disease, type 0, 240600
    • fasting intolerance without enlarged liver

    Red GYS2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    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 Not set
    Sources
    • Victorian Clinical Genetics Services

    Red GYS2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.166
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green GYS2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycogen storage disease 0, liver, 240600