| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.25 | L2HGDH | Bryony Thompson Marked gene: L2HGDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.25 | L2HGDH | Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.25 | L2HGDH | Bryony Thompson Classified gene: L2HGDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.25 | L2HGDH | Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.24 | L2HGDH |
Bryony Thompson gene: L2HGDH was added gene: L2HGDH was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 24753671; 18780161; 15824270; 10399870 Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792 Review for gene: L2HGDH was set to GREEN Added comment: Four families with dystonia as a feature of the condition. Sources: Expert list |
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