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| Ataxia v1.127 | ATXN1_SCA1_CAG | Bryony Thompson Marked STR: ATXN1_SCA1_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.127 | ATXN1_SCA1_CAG | Bryony Thompson Str: atxn1_sca1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.127 | ATXN1_SCA1_CAG | Bryony Thompson Classified STR: ATXN1_SCA1_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.127 | ATXN1_SCA1_CAG | Bryony Thompson Str: atxn1_sca1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.126 | ATXN1_SCA1_CAG |
Bryony Thompson STR: ATXN1_SCA1_CAG was added STR: ATXN1_SCA1_CAG was added to Ataxia. Sources: Expert List Mode of inheritance for STR: ATXN1_SCA1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN1_SCA1_CAG were set to 29325606; 20301363 Phenotypes for STR: ATXN1_SCA1_CAG were set to Spinocerebellar ataxia 1 MIM#164400 Review for STR: ATXN1_SCA1_CAG was set to GREEN STR: ATXN1_SCA1_CAG was marked as clinically relevant STR: ATXN1_SCA1_CAG was marked as current diagnostic Added comment: NM_000332.3:c.589_591CAG[X] Toxic protein aggregation is mechanism of disease Normal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions Mutable normal (intermediate): 36-38 CAG repeats without CAT interruptions Full-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs Sources: Expert List |
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