Glycogen storage disease
Gene: GYG1
GYG1 (glycogenin 1)
EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 9 panels
1 review
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XV 613507
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Phenotypes
-
- Glycogen storage disease XV 613507
- OMIM
- 603942
- Clinvar variants
- Variants in GYG1
- Penetrance
- None
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hypertrophic cardiomyopathy
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Glycogen storage disease
- Acute rhabdomyolysis
History Filter Activity
13 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GYG1 was added gene: GYG1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYG1 were set to Glycogen storage disease XV 613507