| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - adult onset v0.120 | ATXN7 | Bryony Thompson Classified gene: ATXN7 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.120 | ATXN7 | Bryony Thompson Gene: atxn7 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.42 | ATXN7 | Bryony Thompson Marked gene: ATXN7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.42 | ATXN7 | Bryony Thompson Gene: atxn7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.42 | ATXN7 | Bryony Thompson Classified gene: ATXN7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.42 | ATXN7 | 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 v0.42 | ATXN7 | Bryony Thompson Gene: atxn7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.41 | ATXN7 |
Bryony Thompson gene: ATXN7 was added gene: ATXN7 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN7. Mode of inheritance for gene: ATXN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATXN7 were set to 9288099 Phenotypes for gene: ATXN7 were set to Spinocerebellar ataxia 7 MIM#164500 Mode of pathogenicity for gene: ATXN7 was set to Other Review for gene: ATXN7 was set to GREEN Added comment: Adult onset progressive cerebellar ataxia associated with pigmental macular dystrophy, caused by a highly unstable CAG repeat expansion. On mutated alleles, CAG repeat size was highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranged from 7 to 17 repeats. Sources: Expert list |
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