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| Ataxia v1.129 | ATXN3_SCA3_CAG | Bryony Thompson Marked STR: ATXN3_SCA3_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.129 | ATXN3_SCA3_CAG | Bryony Thompson Str: atxn3_sca3_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.129 | ATXN3_SCA3_CAG | Bryony Thompson Classified STR: ATXN3_SCA3_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.129 | ATXN3_SCA3_CAG | Bryony Thompson Str: atxn3_sca3_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.128 | ATXN3_SCA3_CAG |
Bryony Thompson STR: ATXN3_SCA3_CAG was added STR: ATXN3_SCA3_CAG was added to Ataxia. Sources: Expert List 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 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: Expert List |
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