| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.58 | CASQ1 | Bryony Thompson Marked gene: CASQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.58 | CASQ1 | Bryony Thompson Gene: casq1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.58 | CASQ1 | Bryony Thompson Classified gene: CASQ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.58 | CASQ1 | Bryony Thompson Gene: casq1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.57 | CASQ1 |
Bryony Thompson gene: CASQ1 was added gene: CASQ1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASQ1 were set to 38982518 Phenotypes for gene: CASQ1 were set to tubular aggregate myopathy MONDO:0008051 Mode of pathogenicity for gene: CASQ1 was set to Other Review for gene: CASQ1 was set to AMBER gene: CASQ1 was marked as current diagnostic Added comment: 2 cases have been reported with congenital myopathy. Gain of function is expected to be the mechanism of disease. Sources: Literature |
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