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Dystonia and Chorea v0.28 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.28 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Dystonia and Chorea 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 and Chorea v0.28 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.27 MARS2 Bryony Thompson Tag SV/CNV tag was added to gene: MARS2.
Dystonia and Chorea 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