| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral amyloid angiopathy v0.12 | PSEN1 | Bryony Thompson Marked gene: PSEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.12 | PSEN1 | Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.12 | PSEN1 | Bryony Thompson Classified gene: PSEN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.12 | PSEN1 | Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.11 | PSEN1 |
Bryony Thompson gene: PSEN1 was added gene: PSEN1 was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 11701593; 11079548; 34319632 Phenotypes for gene: PSEN1 were set to cerebral amyloid angiopathy MONDO:0005620 Mode of pathogenicity for gene: PSEN1 was set to Other Review for gene: PSEN1 was set to GREEN gene: PSEN1 was marked as current diagnostic Added comment: Greater than 10 families/probands with pathogenic PSEN1 variants leading to amyloid accumulation and cerebral amyloid angiopathy (CAA). Sources: Literature |
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