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  2. Rhabdomyolysis and Metabolic Myopathy
  3. GYS1
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Rhabdomyolysis and Metabolic Myopathy

Gene: GYS1

Green List (high evidence)
GYS1 (glycogen synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000104812
EnsemblGeneIds (GRCh37): ENSG00000104812
OMIM: 138570, Gene2Phenotype
GYS1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Can present in childhood with syncope or cardiac arrest after relatively trivial exercise. Skeletal myopathy may be present. Muscle biopsy will often demonstrate a paucity of stored glycogen and often a proliferation of mitochondria.
Created: 30 Sep 2020, 9:56 a.m. | Last Modified: 30 Sep 2020, 9:56 a.m.
Panel Version: 0.4676

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease 0, muscle, MIM# 611556

Publications

Created: 30 Sep 2020, 9:56 a.m.
Last Modified: 30 Sep 2020, 9:56 a.m.
Panel version: Imported from Mendeliome panel version 0.4676

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 unrelated cases/families reported, and pathogenic variants in the gene causes polysaccharide storage myopathy in horses.
Sources: Expert list
Created: 12 Feb 2020, 5:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease 0, muscle MIM#611556

Publications

Created: 12 Feb 2020, 5:52 a.m.

Panel version: Imported from Myopathy Superpanel panel version 0.28

Details

Mode of Inheritance
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
OMIM
138570
Clinvar variants
Variants in GYS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gys1 has been classified as Green List (High Evidence).

7 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GYS1 were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GYS1 was added gene: GYS1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556