| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v1.52 | OPA1 | Bryony Thompson Marked gene: OPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.52 | OPA1 | Bryony Thompson Gene: opa1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.52 | OPA1 |
Bryony Thompson gene: OPA1 was added gene: OPA1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA1 were set to 38982518 Phenotypes for gene: OPA1 were set to congenital myopathy MONDO:0019952 Review for gene: OPA1 was set to RED Added comment: A single case with centronuclear myopathy Sources: Literature |
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