Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: GYG1EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 9 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:23 p.m. | Last Modified: 28 Nov 2019, 5:23 p.m.
Panel Version: 1.169
Chiara Marini Bettolo (NUTH)
metabolic myopathy. Polyglucosan body myopathy.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Ana Topf (John Walton Muscular Dystrophy Research Centre)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XV, 613507
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
- Phenotypes
-
- Glycogen storage disease XV, 613507
- OMIM
- 603942
- Clinvar variants
- Variants in GYG1
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: gyg1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: gyg1 has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GYG1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to GYG1.
Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene GYG1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glycogen storage disease XV, 613507 for gene: GYG1 Publications for gene GYG1 were changed from to 20357282
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GYG1 was added gene: GYG1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: GYG1 was set to