| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.141 | CFL2 | Bryony Thompson Marked gene: CFL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.141 | CFL2 | Bryony Thompson Gene: cfl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.141 | CFL2 | Bryony Thompson Classified gene: CFL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.141 | CFL2 | Bryony Thompson Gene: cfl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.140 | CFL2 | Bryony Thompson Publications for gene: CFL2 were set to PMID: 17160903; 22560515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | CFL2 |
Sangavi Sivagnanasundram gene: CFL2 was added gene: CFL2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFL2 were set to PMID: 17160903; 22560515 Phenotypes for gene: CFL2 were set to Nemaline myopathy 7 (MONDO:0012538; MIM#610687) Review for gene: CFL2 was set to GREEN Added comment: PMID: 17160903; 22560515 Age of onset - from birth to early childhood (typically around the ages of expected childhood milestones) - 4 individuals from 2 unrelated consangineous families with clinical phenotypes consistent with congenital myopathy Sources: Other |
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