Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 |