Activity
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7 actions
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| Muscular dystrophy and myopathy_Paediatric v1.43 | MYH7 | Bryony Thompson Marked gene: MYH7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.43 | MYH7 | Bryony Thompson Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.43 | MYH7 | Bryony Thompson Mode of pathogenicity for gene: MYH7 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.42 | MYH7 | Bryony Thompson Classified gene: MYH7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.42 | MYH7 | Bryony Thompson Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.41 | MYH7 | Bryony Thompson edited their review of gene: MYH7: Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.41 | MYH7 |
Bryony Thompson gene: MYH7 was added gene: MYH7 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH7 were set to 38982518; 15322983 Phenotypes for gene: MYH7 were set to MYH7-related skeletal myopathy MONDO:0008050 Review for gene: MYH7 was set to GREEN gene: MYH7 was marked as current diagnostic Added comment: Congenital myopathy reported in >4 cases/families (e.g. core myopathy). The mechanism for disease is dominant negative. Sources: Literature |
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