| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral amyloid angiopathy v0.10 | PRNP | Bryony Thompson Mode of pathogenicity for gene: PRNP was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.9 | PRNP | Bryony Thompson Classified gene: PRNP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.9 | PRNP | Bryony Thompson Gene: prnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.8 | PRNP |
Bryony Thompson gene: PRNP was added gene: PRNP was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 8570627; 19225789; 34128081; 19911184; 24224623 Phenotypes for gene: PRNP were set to PrP systemic amyloidosis MONDO:0018339 Review for gene: PRNP was set to GREEN gene: PRNP was marked as current diagnostic Added comment: At least five probands/families reported with stopgain variants that lead to truncation of the C-terminus of the protein, which are associated with PrP amyloid in cerebral vessels Sources: Literature |
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