Hypertrophic cardiomyopathy_HCM
Gene: GYG1
GYG1 (glycogenin 1)
EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Well established gene-disease association with glycogen storage disorder, primarily affecting skeletal muscle.
Sources: Expert ReviewCreated: 4 Dec 2021, 12:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic Cardiomyopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Hypertrophic Cardiomyopathy
- OMIM
- 603942
- Clinvar variants
- Variants in GYG1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
4 Dec 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gyg1 has been classified as Amber List (Moderate Evidence).
4 Dec 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gyg1 has been classified as Amber List (Moderate Evidence).
4 Dec 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GYG1 was added gene: GYG1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert Review Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYG1 were set to 27718144; 20357282; 31628455 Phenotypes for gene: GYG1 were set to Hypertrophic Cardiomyopathy Review for gene: GYG1 was set to AMBER