| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - adult onset v0.118 | ATXN10 | Bryony Thompson Classified gene: ATXN10 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.118 | ATXN10 | Bryony Thompson Gene: atxn10 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Marked gene: ATXN10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Gene: atxn10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Classified gene: ATXN10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Added comment: Comment on list classification: Note: the pentanucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.46 | ATXN10 | Bryony Thompson Gene: atxn10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.45 | ATXN10 |
Bryony Thompson gene: ATXN10 was added gene: ATXN10 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN10. Mode of inheritance for gene: ATXN10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN10 were set to 11017075; 15127363 Phenotypes for gene: ATXN10 were set to Spinocerebellar ataxia 10 MIM#603516 Mode of pathogenicity for gene: ATXN10 was set to Other Review for gene: ATXN10 was set to GREEN Added comment: Ataxia in 5 Mexican families, caused by an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset. Sources: Expert list |
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