| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.162 | MYBPC1 | Bryony Thompson Marked gene: MYBPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.162 | MYBPC1 | Bryony Thompson Gene: mybpc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.162 | MYBPC1 | Bryony Thompson Classified gene: MYBPC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.162 | MYBPC1 | Bryony Thompson Gene: mybpc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | MYBPC1 |
Sangavi Sivagnanasundram gene: MYBPC1 was added gene: MYBPC1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYBPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYBPC1 were set to 31264822; 31025394 Phenotypes for gene: MYBPC1 were set to Congenital Myopathy 16 (MIM#618524) Review for gene: MYBPC1 was set to GREEN Added comment: age of onset is seen to be typically during infancy PMID: 31264822 4 individuals from 3 unrelated families with myopathy related phenotypes PMID: 31025394 2 individuals from unrelated families with myopathy Sources: Other |
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