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| Ataxia v1.125 | ATXN10_SCA10_ATTCT | Bryony Thompson Marked STR: ATXN10_SCA10_ATTCT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.125 | ATXN10_SCA10_ATTCT | Bryony Thompson Str: atxn10_sca10_attct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.125 | ATXN10_SCA10_ATTCT | Bryony Thompson Classified STR: ATXN10_SCA10_ATTCT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.125 | ATXN10_SCA10_ATTCT | Bryony Thompson Str: atxn10_sca10_attct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.124 | ATXN10_SCA10_ATTCT |
Bryony Thompson STR: ATXN10_SCA10_ATTCT was added STR: ATXN10_SCA10_ATTCT was added to Ataxia. Sources: Expert List Mode of inheritance for STR: ATXN10_SCA10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN10_SCA10_ATTCT were set to 20301354 Phenotypes for STR: ATXN10_SCA10_ATTCT were set to Spinocerebellar ataxia 10 MIM#603516 Review for STR: ATXN10_SCA10_ATTCT was set to GREEN STR: ATXN10_SCA10_ATTCT was marked as clinically relevant STR: ATXN10_SCA10_ATTCT was marked as current diagnostic Added comment: NM_013236.2:c.1430+54822ATTCT[X] Toxic RNA gain-of-function mechanism of disease Normal alleles: 10-32 ATTCT repeats Alleles of questionable significance: 33-280 ATTCT repeats Reduced-penetrance alleles: 33-850 repeats Full-penetrance alleles: 800-4,500 ATTCT repeats Sources: Expert List |
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