| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Ataxia - adult onset v0.119 | ATXN3 | Bryony Thompson Classified gene: ATXN3 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.119 | ATXN3 | Bryony Thompson Gene: atxn3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.40 | ATXN3 | Bryony Thompson Marked gene: ATXN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.40 | ATXN3 | Bryony Thompson Gene: atxn3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.40 | ATXN3 | Bryony Thompson Classified gene: ATXN3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.40 | ATXN3 | Bryony Thompson Added comment: Comment on list classification: Note: the trinucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.40 | ATXN3 | Bryony Thompson Gene: atxn3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.39 | ATXN3 |
Bryony Thompson gene: ATXN3 was added gene: ATXN3 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN3. Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN3 were set to 7874163 Phenotypes for gene: ATXN3 were set to Machado-Joseph disease MIM#109150; spindocerebellar ataxia 3 Mode of pathogenicity for gene: ATXN3 was set to Other Review for gene: ATXN3 was set to GREEN Added comment: Adult onset ataxia: caused by an expansion of a (CAG)n repeat in the ATXN3 gene. In normal individuals, the gene contains between 13 and 36 CAG repeats, whereas most patients with clinically diagnosed MJD showed expansion of the repeat number in the range of 68 to 79 copies. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||