Rhabdomyolysis and metabolic muscle disorders
Gene: GYG1EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 9 panels
3 reviews
Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XV
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 6 variants reportedCreated: 4 Jan 2017, 11:54 a.m.
Ros Quinlivan (UCLH)
Phenotypes
muscle cramps and rhabdomyolysis phenotype
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- UKGTN
- Phenotypes
-
- ?Glycogen storage disease XV 613507
- Polyglucosan body myopathy 2 616199
- OMIM
- 603942
- Clinvar variants
- Variants in GYG1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Glycogen storage disease
- Undiagnosed metabolic disorders
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for GYG1 were set to 20357282; 25272951; 27544502; 26652229; 26255073
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Upload gene information
Sarah Leigh (Genomics England Curator)GYG1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for GYG1 were set to 20357282; 25272951; 27544502; 26652229
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GYG1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)GYG1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)GYG1 was created by sleigh