Activity
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7 actions
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| Dystonia - complex v0.19 | FBXL4 | Bryony Thompson Marked gene: FBXL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.19 | FBXL4 | Bryony Thompson Gene: fbxl4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.19 | FBXL4 | Bryony Thompson Classified gene: FBXL4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.19 | FBXL4 | Bryony Thompson Gene: fbxl4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.18 | FBXL4 |
Bryony Thompson changed review comment from: Cannot find evidence that dystonia is a prominent feature of the condition. Sources: Expert list; to: Dystonia is a feature of the phenotype in three out of nine cases with biallelic variants. Sources: Expert list |
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| Dystonia - complex v0.18 | FBXL4 | Bryony Thompson edited their review of gene: FBXL4: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.18 | FBXL4 |
Bryony Thompson gene: FBXL4 was added gene: FBXL4 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Review for gene: FBXL4 was set to RED Added comment: Cannot find evidence that dystonia is a prominent feature of the condition. Sources: Expert list |
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