Glycogen Storage Diseases
Gene: GYS1

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

1 review

Sarah Donoghue (Royal Children's Hospital)

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, 6:33 a.m. | Last Modified: 30 Sep 2020, 6:33 a.m.

Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sudden cardiac death; skeletal myopathy; Syncope; Epilepsy

Publications

PMID: 17928598
PMID: 19699667
PMID: 21958591

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Sep 2020, 6:33 a.m.
Last Modified: 30 Sep 2020, 6:33 a.m.
Panel version: 0.23

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Glycogen storage disease 0, muscle, MIM# 611556

OMIM

138570

Clinvar variants

Variants in GYS1

Penetrance

None

Publications

Panels with this gene