| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v2.30 | PPP2R2B_SCA12_CAG | Bryony Thompson Marked STR: PPP2R2B_SCA12_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.30 | PPP2R2B_SCA12_CAG | Bryony Thompson Str: ppp2r2b_sca12_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.30 | PPP2R2B_SCA12_CAG | Bryony Thompson Classified STR: PPP2R2B_SCA12_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.30 | PPP2R2B_SCA12_CAG | Bryony Thompson Str: ppp2r2b_sca12_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.29 | PPP2R2B_SCA12_CAG |
Bryony Thompson STR: PPP2R2B_SCA12_CAG was added STR: PPP2R2B_SCA12_CAG was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for STR: PPP2R2B_SCA12_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: PPP2R2B_SCA12_CAG were set to 31286011; 27864267; 33811808; 10581021 Phenotypes for STR: PPP2R2B_SCA12_CAG were set to Spinocerebellar ataxia 12 MIM#604326 Review for STR: PPP2R2B_SCA12_CAG was set to GREEN STR: PPP2R2B_SCA12_CAG was marked as clinically relevant STR: PPP2R2B_SCA12_CAG was marked as current diagnostic Added comment: NM_181675.3:c.27CAG[X] Uncertain if CAG repeat encodes polyglutamine or instead affects the expression of specific splice variants of the encoded phosphatase Normal: ≤32 repeats Uncertain: ~40-50 repeats have been reported, 43 repeats is the lowest reported in an established affected individual in a family with SCA12 Established pathogenic (used as diagnostic cut-off): ≥51 repeats Sources: Literature |
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