| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dystonia - complex v0.28 | MARS2 | Bryony Thompson Marked gene: MARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.28 | MARS2 | Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.28 | MARS2 | Bryony Thompson Classified gene: MARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.28 | MARS2 | Bryony Thompson Added comment: Comment on list classification: Large duplications that are not detected by WES are the only reported cause of the form of spastic ataxia caused by this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.28 | MARS2 | Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.27 | MARS2 | Bryony Thompson Tag SV/CNV tag was added to gene: MARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.27 | MARS2 |
Bryony Thompson gene: MARS2 was added gene: MARS2 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 16672289; 22448145 Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390 Review for gene: MARS2 was set to GREEN Added comment: 57% of 23 cases from 17 French-Canadian spastic ataxia families had dystonia as a feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||