| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v3.14 | LRP10 | Bryony Thompson Marked gene: LRP10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.14 | LRP10 | Bryony Thompson Gene: lrp10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.14 | LRP10 | Bryony Thompson Classified gene: LRP10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.14 | LRP10 | Bryony Thompson Gene: lrp10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.13 | LRP10 |
Bryony Thompson gene: LRP10 was added gene: LRP10 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: LRP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP10 were set to 36434476; 33913039; 32613234; 32597809; 30964957; 30597596; 29887161 Phenotypes for gene: LRP10 were set to Parkinson disease MONDO:0005180 Review for gene: LRP10 was set to GREEN Added comment: PMID 29887161 reports 12 families (30 patients) with Parkinson disease, Parkinson disease dementia and dementia with Lewy bodies with supporting segregation and variant‑specific functional loss‑of‑function. Also, some unaffected variant carriers. PMID 32613234 describes an additional independent family with a frameshift variant. Combined, 13 independent families meet the qualifying‑variant gate, supporting an autosomal‑dominant Parkinson disease spectrum that is directly relevant to the Early‑onset Parkinson disease panel (abnormal extrapyramidal motor function). Sources: Literature |
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