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| Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Added comment: Comment when marking as ready: Gene is associated with CPVT phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Classified gene: RYR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Classified gene: RYR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.89 | RYR2 |
Paul De Fazio gene: RYR2 was added gene: RYR2 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30681346; 26573135; 22515980; 26656175; 30835254 Phenotypes for gene: RYR2 were set to Hypertrophic cardiomyopathy Review for gene: RYR2 was set to AMBER gene: RYR2 was marked as current diagnostic Added comment: Limited evidence by ClinGen working group. Via Clingen: 8 probands with HCM across 4 publications. A mouse model lends support to pathogenicity. No additional reports in association with HCM found. Sources: Literature |
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