| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.282 | COASY | Bryony Thompson Marked gene: COASY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.282 | COASY | Bryony Thompson Gene: coasy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.282 | COASY | Bryony Thompson Classified gene: COASY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.282 | COASY | Bryony Thompson Gene: coasy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.281 | COASY |
Bryony Thompson gene: COASY was added gene: COASY was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334 Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266 Review for gene: COASY was set to GREEN Added comment: A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported. Sources: NHS GMS, Literature |
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