| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.230 | SLC25A24 | Bryony Thompson Marked gene: SLC25A24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.230 | SLC25A24 | Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.230 | SLC25A24 | Bryony Thompson Classified gene: SLC25A24 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.230 | SLC25A24 | Bryony Thompson Gene: slc25a24 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.229 | SLC25A24 |
Bryony Thompson gene: SLC25A24 was added gene: SLC25A24 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A24 were set to 29100094; 29100093 Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome MIM#612289 Review for gene: SLC25A24 was set to GREEN Added comment: De novo heterozygous variants (R217H, R217C) were identified in 9 unrelated cases. Functional analysis demonstrated that the variants affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation. Sources: NHS GMS |
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