SCA31_BEAN1-critria-update#452
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hdashnow
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May 23, 2026
hdashnow
approved these changes
May 23, 2026
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Updated the BEAN1 / SCA31 criTRia entry by filling the root-level Description and improving existing Evidence detail fields using the provided source papers. The update clarifies the pathogenic (TGGAA)n-containing BEAN1/TK2 intronic insertion, affected cohort size, allele length correlation with age at onset, control observations, and review-level experimental evidence.
Issues: #451
Major Changes
Minor Changes
Added a concise root-level Description for BEAN1 / SCA31.
Updated vague or missing Evidence detail fields for:
Probands
Allele
Case-control data
Biochemical function
Protein interaction
Regulatory impact
Patient cells
Left curator-review items for unsupported/unclear experimental evidence rows:
Non-patient cells
Non-human model organism
#451