Hypertrophic cardiomyopathy
Gene: GYG1EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 9 panels
2 reviews
Ivone Leong (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 3 Mar 2022, 1:23 p.m. | Last Modified: 3 Mar 2022, 1:23 p.m.
Panel Version: 2.35
Comment on list classification: New gene added by Oliver Watkinson (NHS). THis gene is associated with a phenotype in OMIM but not Gene2Phenotype. While there are >3 unrelated cases of affected patients with HCM there are other patients with variants in this gene who do not have any cardiomyopathy phenotype. As indicated by Oliver Watkinson, the sister of an affected patient had the same genotype but was unaffected. Based on the available evidence this gene has been given an Amber rating until more cases are available.Created: 25 Oct 2021, 8:51 a.m. | Last Modified: 25 Oct 2021, 8:51 a.m.
Panel Version: 2.30
Oliver Watkinson (NHS)
4 unrelated patients described in these reports with homozygous/compound het mutations in GYG1. All had a form of HCM, with extensive scarring, arrhythmia. Histological studies reveal storage of glycogen & polyglycosan associated with mutated glycogenin 1 within cardiac myocytes. The 3 patients in PMID 27718144 did not have overt skeletal myopathy. Other patients with mutations in this gene have had skeletal myopathy without cardiomyopathy. The cause for this variable expression is not entirely clear. The sister of one patient carried the homozygous mutation, but was asymptomatic.
This gene was previously offered routinely by Sheffield as part of the "Glycogen Storage Disorder - heart" panel prior to the National Test Directory.Created: 18 Oct 2021, 9:15 p.m. | Last Modified: 18 Oct 2021, 9:15 p.m.
Panel Version: 2.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic Cardiomyopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- ?Glycogen storage disease XV, OMIM:613507
- hypertrophic cardiomyopathy, MONDO:0005045
- Tags
- OMIM
- 603942
- Clinvar variants
- Variants in GYG1
- Penetrance
- Incomplete
- 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
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: GYG1. Tag Q4_21_NHS_review was removed from gene: GYG1.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_NHS_review tag was added to gene: GYG1.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: GYG1.
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: GYG1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: gyg1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GYG1 were changed from to ?Glycogen storage disease XV, OMIM:613507; hypertrophic cardiomyopathy, MONDO:0005045
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GYG1 were set to 27718144
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
Oliver Watkinson (NHS)gene: GYG1 was added gene: GYG1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Literature Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYG1 were set to 27718144 Penetrance for gene: GYG1 were set to Incomplete