| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v2.35 | TBP_SCA17_CAG | Bryony Thompson Marked STR: TBP_SCA17_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.35 | TBP_SCA17_CAG | Bryony Thompson Str: tbp_sca17_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.35 | TBP_SCA17_CAG | Bryony Thompson Classified STR: TBP_SCA17_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.35 | TBP_SCA17_CAG | Bryony Thompson Str: tbp_sca17_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.34 | TBP_SCA17_CAG |
Bryony Thompson STR: TBP_SCA17_CAG was added STR: TBP_SCA17_CAG was added to Early-onset Parkinson disease. Sources: Expert list Mode of inheritance for STR: TBP_SCA17_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: TBP_SCA17_CAG were set to 10484774; 20301611; 29325606; 27172828; 14638975; 11313753; 11914409 Phenotypes for STR: TBP_SCA17_CAG were set to Spinocerebellar ataxia 17 MIM#607136 Review for STR: TBP_SCA17_CAG was set to GREEN STR: TBP_SCA17_CAG was marked as clinically relevant STR: TBP_SCA17_CAG was marked as current diagnostic Added comment: NM_003194.4:c.172_174[X] Mechanism of disease expected to be gain of function Normal: ≤ 40 CAG/CAA repeats Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms. Full-penetrance: ≥49 CAG/CAA repeats Sources: Expert list |
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