Activity
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6 actions
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| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Marked gene: MYH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Gene: myh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Classified gene: MYH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease validity by the ClinGen Congenital Myopathy VCEP - reviewed 09/03/2020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Gene: myh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.184 | MYH2 |
Bryony Thompson gene: MYH2 was added gene: MYH2 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MYH2 were set to 20418530; 15548556; 24193343; 11114175; 23489661; 32578970; 29934118; 28729039; 27490141; 27177998 Phenotypes for gene: MYH2 were set to Myopathy, proximal, and ophthalmoplegia MONDO:0011577 gene: MYH2 was marked as current diagnostic |
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