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| Ataxia v1.135 | BEAN1_SCA31_TGGAA | Bryony Thompson Marked STR: BEAN1_SCA31_TGGAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.135 | BEAN1_SCA31_TGGAA | Bryony Thompson Str: bean1_sca31_tggaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.135 | BEAN1_SCA31_TGGAA | Bryony Thompson Classified STR: BEAN1_SCA31_TGGAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.135 | BEAN1_SCA31_TGGAA | Bryony Thompson Str: bean1_sca31_tggaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.134 | BEAN1_SCA31_TGGAA |
Bryony Thompson STR: BEAN1_SCA31_TGGAA was added STR: BEAN1_SCA31_TGGAA was added to Ataxia. Sources: Expert List Mode of inheritance for STR: BEAN1_SCA31_TGGAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: BEAN1_SCA31_TGGAA were set to 19878914; 31755042 Phenotypes for STR: BEAN1_SCA31_TGGAA were set to Spinocerebellar ataxia 31 MIM#117210 Review for STR: BEAN1_SCA31_TGGAA was set to GREEN STR: BEAN1_SCA31_TGGAA was marked as clinically relevant STR: BEAN1_SCA31_TGGAA was marked as current diagnostic Added comment: Complex repeat insertion (TGGAA)n, (TAGAA)n, (TAAAA)n, (TAAAATAGAA)n, TGGAA is present only in affected cases. Sequencing showed that the insertion consisted of a preceding TCAC sequence, and 3 pentanucleotide repeat components (TGGAA)n, (TAGAA)n, and (TAAAA)n in all patients tested. 2.5-3.8 KB insertion is associated with disease and RNA toxicity expected to be mechanism of disease Normal and pathogenic cut-offs are based on animal model experiments (PMID: 31755042) Sources: Expert List |
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