| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dystonia - complex v0.101 | MAT1A | Zornitza Stark Marked gene: MAT1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.101 | MAT1A | Zornitza Stark Gene: mat1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.29 | MAT1A |
Bryony Thompson gene: MAT1A was added gene: MAT1A was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 8770875 Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Review for gene: MAT1A was set to RED Added comment: Single case reported with dystonia a feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||