| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.47 | CHRNA1 | Bryony Thompson Classified gene: CHRNA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.47 | CHRNA1 | Bryony Thompson Gene: chrna1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.47 | CHRNA1 | Bryony Thompson Classified gene: CHRNA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.47 | CHRNA1 | Bryony Thompson Gene: chrna1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.46 | CHRNA1 | Bryony Thompson Marked gene: CHRNA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.46 | CHRNA1 | Bryony Thompson Gene: chrna1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.46 | CHRNA1 |
Bryony Thompson gene: CHRNA1 was added gene: CHRNA1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CHRNA1 were set to 36634413; 38982518 Phenotypes for gene: CHRNA1 were set to Congenital myopathy MONDO:0019952 Review for gene: CHRNA1 was set to AMBER Added comment: Congenital myopathy reported in at least 2 cases. One biallelic (loss of function) and one monoallelic (gain of function). Sources: Literature |
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