| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - adult onset v0.114 | TBP | Bryony Thompson Classified gene: TBP as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.114 | TBP | Bryony Thompson Gene: tbp has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.52 | TBP | Bryony Thompson Marked gene: TBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.52 | TBP | Bryony Thompson Gene: tbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.52 | TBP | Bryony Thompson Classified gene: TBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.52 | TBP | 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 v0.52 | TBP | Bryony Thompson Gene: tbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.51 | TBP | Bryony Thompson Tag STR tag was added to gene: TBP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.51 | TBP |
Bryony Thompson gene: TBP was added gene: TBP was added to Ataxia - adult onset. Sources: Expert list Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBP were set to 10484774; 11448935 Phenotypes for gene: TBP were set to Spinocerebellar ataxia 17 MIM#607136 Mode of pathogenicity for gene: TBP was set to Other Review for gene: TBP was set to GREEN Added comment: Ataxia caused by an abnormal (CAG)n expansion in TBP to a range of 47 to 55 repeats. Identified in Japanese families. Sources: Expert list |
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