| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypertrophic cardiomyopathy_HCM v0.160 | GYG1 | Zornitza Stark Marked gene: GYG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.160 | GYG1 | Zornitza Stark Gene: gyg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.160 | GYG1 | Zornitza Stark Classified gene: GYG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.160 | GYG1 | Zornitza Stark Gene: gyg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.159 | GYG1 |
Zornitza Stark 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 Added comment: 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 Review |
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