| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.65 | DPAGT1 | Bryony Thompson Marked gene: DPAGT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.65 | DPAGT1 | Bryony Thompson Gene: dpagt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.65 | DPAGT1 | Bryony Thompson Classified gene: DPAGT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.65 | DPAGT1 | Bryony Thompson Gene: dpagt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.64 | DPAGT1 |
Bryony Thompson gene: DPAGT1 was added gene: DPAGT1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 38982518; 38443029; 38124360; 29356258; 24759841 Phenotypes for gene: DPAGT1 were set to tubular aggregate myopathy MONDO:0008051 Review for gene: DPAGT1 was set to GREEN gene: DPAGT1 was marked as current diagnostic Added comment: 3 cases reported with congenital myopathy, and at least 2 case with CMS mimicking a congenital myopathy Sources: Literature |
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