Rhabdomyolysis and metabolic muscle disorders

Gene: GYG1

Green List (high evidence)

GYG1 (glycogenin 1)
EnsemblGeneIds (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)

Green List (high evidence)

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 reported
Created: 4 Jan 2017, 11:54 a.m.

Ros Quinlivan (UCLH)

Green List (high evidence)

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

History Filter Activity

18 Jul 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GYG1 were set to 20357282; 25272951; 27544502; 26652229; 26255073

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

4 Jan 2017, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

GYG1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Radboud University Medical Center, Nijmegen

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Jan 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GYG1 were set to 20357282; 25272951; 27544502; 26652229

4 Jan 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199

4 Jan 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199

4 Jan 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GYG1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GYG1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GYG1 was created by sleigh