| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.288 | D2HGDH | Bryony Thompson Marked gene: D2HGDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.288 | D2HGDH | Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.288 | D2HGDH | Bryony Thompson Classified gene: D2HGDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.288 | D2HGDH | Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.287 | D2HGDH |
Bryony Thompson gene: D2HGDH was added gene: D2HGDH was added to Mitochondrial disease. Sources: Literature,NHS GMS Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 25778941; 31349060; 15609246; 20020533 Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria MIM#600721 Review for gene: D2HGDH was set to GREEN Added comment: Enzyme catalyses oxidation of D-2HG, which is coupled to the mitochondrial electron transport chain. >3 cases reported. Sources: Literature, NHS GMS |
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