| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dystonia - complex v0.101 | MPV17 | Zornitza Stark Marked gene: MPV17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.101 | MPV17 | Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.31 | MPV17 |
Bryony Thompson gene: MPV17 was added gene: MPV17 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPV17 were set to 29282788 Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 Review for gene: MPV17 was set to RED Added comment: Dystonia is not a prominent feature of the condition. It has been reported in 4/91 (4%) of cases. There are other features that are more prominent. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||