| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.63 | ALG14 | Bryony Thompson Marked gene: ALG14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.63 | ALG14 | Bryony Thompson Gene: alg14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.63 | ALG14 | Bryony Thompson Classified gene: ALG14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.63 | ALG14 | Bryony Thompson Gene: alg14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.62 | ALG14 |
Bryony Thompson gene: ALG14 was added gene: ALG14 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 38982518; 28733338 Phenotypes for gene: ALG14 were set to congenital myopathy MONDO:0019952 Review for gene: ALG14 was set to AMBER gene: ALG14 was marked as current diagnostic Added comment: 2 cases have been reported with congenital myopathy with biallelic variants. Sources: Literature |
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