| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v2.22 | ATXN3_SCA3_CAG | Bryony Thompson Marked STR: ATXN3_SCA3_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.22 | ATXN3_SCA3_CAG | Bryony Thompson Str: atxn3_sca3_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.22 | ATXN3_SCA3_CAG | Bryony Thompson Classified STR: ATXN3_SCA3_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.22 | ATXN3_SCA3_CAG | Bryony Thompson Str: atxn3_sca3_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.21 | ATXN3_SCA3_CAG |
Bryony Thompson STR: ATXN3_SCA3_CAG was added STR: ATXN3_SCA3_CAG was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for STR: ATXN3_SCA3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN3_SCA3_CAG were set to 11176969; 7574470; 7874163; 20301375; 29325606 Phenotypes for STR: ATXN3_SCA3_CAG were set to Machado-Joseph disease MIM#109150; Spinocerebellar ataxia type 3 Review for STR: ATXN3_SCA3_CAG was set to GREEN STR: ATXN3_SCA3_CAG was marked as clinically relevant STR: ATXN3_SCA3_CAG was marked as current diagnostic Added comment: NM_004993.5:c.886_888CAG[X] Toxic aggregation and mislocalization in neurons is mechanism of disease Normal: ≤44 repeats, mostly <31 repeats Intermediate: 45-59 repeats, some intermediate alleles are not associated with classic clinical features of SCA3 Pathogenic (full penetrance): ≥60 repeats Sources: Literature |
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