Activity
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5 actions
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| Hypertrophic cardiomyopathy_HCM v0.104 | MYPN | Zornitza Stark Marked gene: MYPN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.104 | MYPN | Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.104 | MYPN | Zornitza Stark Classified gene: MYPN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.104 | MYPN | Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.89 | MYPN |
Ain Roesley gene: MYPN was added gene: MYPN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYPN were set to 30681346; 20801532; 22286171 Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic, 22 (MIM# 615248) Penetrance for gene: MYPN were set to unknown Review for gene: MYPN was set to RED Added comment: PMID: 30681346; LIMITED by ClinGen working group. Extract from ClinGen's curation: Variants in this gene have been reported in at least 8 probands in 2 publications (PMIDs: 20801532, 22286171). This gene disease association is supported by expression studies, functional assays, and animal models. In summary, there is limited evidence to support this gene-disease relationship Sources: Literature |
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