| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.45 | SLC25A4 | Bryony Thompson Marked gene: SLC25A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.45 | SLC25A4 | Bryony Thompson Gene: slc25a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.45 | SLC25A4 | Bryony Thompson Classified gene: SLC25A4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.45 | SLC25A4 | Bryony Thompson Gene: slc25a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.44 | SLC25A4 |
Bryony Thompson gene: SLC25A4 was added gene: SLC25A4 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 28823815 Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Review for gene: SLC25A4 was set to GREEN Added comment: Five unrelated cases reported with exercise intolerance as a presenting feature of the condition. Sources: Expert list |
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