| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - adult onset v0.117 | ATXN2 | Bryony Thompson Classified gene: ATXN2 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.117 | ATXN2 | Bryony Thompson Gene: atxn2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.38 | ATXN2 | Bryony Thompson Marked gene: ATXN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.38 | ATXN2 | Bryony Thompson Gene: atxn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.38 | ATXN2 | Bryony Thompson Classified gene: ATXN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.38 | ATXN2 | 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 v0.38 | ATXN2 | Bryony Thompson Gene: atxn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.37 | ATXN2 |
Bryony Thompson gene: ATXN2 was added gene: ATXN2 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN2. Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN2 were set to 8896555; 8896556 Phenotypes for gene: ATXN2 were set to Spinocerebellar ataxia 2 MIM#183090 Mode of pathogenicity for gene: ATXN2 was set to Other Review for gene: ATXN2 was set to GREEN Added comment: Mean age of onset of ataxia in third decade: (CAG)n repeat located in the 5-prime end of the coding region of the ATXN2 gene. SCA2 patient chromosomes usually contain expanded repeats ranging in size from 35 to 59 units. Sources: Expert list |
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