Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Ataxia - paediatric v0.130 MARS2 Bryony Thompson Marked gene: MARS2 as ready
Ataxia - paediatric v0.130 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.130 MARS2 Bryony Thompson Classified gene: MARS2 as Green List (high evidence)
Ataxia - paediatric v0.130 MARS2 Bryony Thompson Gene: mars2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.129 MARS2 Bryony Thompson gene: MARS2 was added
gene: MARS2 was added to Ataxia - paediatric. Sources: Expert list
SV/CNV tags were added to gene: MARS2.
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive MIM#611390
Review for gene: MARS2 was set to GREEN
Added comment: Variable age at onset (range 2 to 59 years, mean 24 years). Complex duplication rearrangements the only cause reported to date.
Sources: Expert list