Rhabdomyolysis and metabolic muscle disorders

Gene: GYS1

Green List (high evidence)

GYS1 (glycogen synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000104812
EnsemblGeneIds (GRCh37): ENSG00000104812
OMIM: 138570, Gene2Phenotype
GYS1 is in 9 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease 0, muscle

Publications

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least four variants reported in three cases (two homozygote and one compound heterozygote). Supportive in vitro studies reported and considerable evidence of GYS1 variants in equine rhabdomyolysis
Created: 5 Dec 2016, 10:34 a.m.
Comment on publications: PMID 21958591 reports compound heterozygous variants in one fatal case, in vitro studies included
Created: 5 Dec 2016, 10:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen storage disease 0, muscle 611556
OMIM
138570
Clinvar variants
Variants in GYS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Jul 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GYS1 were set to 27604308; 24579562; 21958591; 19699667; 17928598

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GYS1 were set to 27604308; 24579562; 21958591

5 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GYS1 were set to 27604308; 24579562; 21958591

5 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GYS1 were set to 27604308; 24579562

1 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

GYS1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Literature

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene GYS1 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GYS1 were set to Glycogen storage disease 0, muscle 611556

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GYS1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GYS1 was created by sleigh