| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral amyloid angiopathy v0.3 | APP | Bryony Thompson Marked gene: APP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.3 | APP | Bryony Thompson Gene: app has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.3 | APP | Bryony Thompson Classified gene: APP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.3 | APP | Bryony Thompson Gene: app has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.2 | APP |
Bryony Thompson gene: APP was added gene: APP was added to Cerebral amyloid angiopathy. Sources: Expert list Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APP were set to 16178030; 11409420; 16612981; 19225789 Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related MONDO:0011583 Mode of pathogenicity for gene: APP was set to Other Review for gene: APP was set to GREEN gene: APP was marked as current diagnostic Added comment: Well-established cause of cerebral amyloid angiopathy. Loss of function is not the mechanism of disease. Disease-causing missense substitutions cause an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. Sources: Expert list |
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