| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.286 | IDH2 | Bryony Thompson Marked gene: IDH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.286 | IDH2 | Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.286 | IDH2 | Bryony Thompson Classified gene: IDH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.286 | IDH2 | Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.285 | IDH2 |
Bryony Thompson gene: IDH2 was added gene: IDH2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IDH2 were set to 25778941; 27142242; 20847235; 24049096 Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 MIM#613657 Review for gene: IDH2 was set to GREEN Added comment: Loss of IDH2 induces mitochondrial dysfunction in a mouse model. 17 cases with a de novo or inherited from a mosaic carrier (R140G, R140Q) have been reported. Sources: Literature |
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