| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.280 | PPOX | Bryony Thompson Marked gene: PPOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.280 | PPOX | Bryony Thompson Gene: ppox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.280 | PPOX | Bryony Thompson Classified gene: PPOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.280 | PPOX | Bryony Thompson Gene: ppox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.279 | PPOX |
Bryony Thompson gene: PPOX was added gene: PPOX was added to Mitochondrial disease. Sources: Literature,NHS GMS Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PPOX were set to 25778941; 9811936; 12859407; 30476629 Phenotypes for gene: PPOX were set to Porphyria variegata MIM#176200 Review for gene: PPOX was set to GREEN Added comment: Variegate porphyria is a disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. A defect in a relevant mitochondrial cofactor. >3 cases reported. Sources: Literature, NHS GMS |
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