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| Stroke v0.67 | APP | Zornitza Stark Marked gene: APP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.67 | APP | Zornitza Stark Gene: app has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.67 | APP | Zornitza Stark Phenotypes for gene: APP were changed from Cerebral amyloid angiopathy, APP-related to Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714; Cerebral amyloid angiopathy, APP-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.66 | APP | Zornitza Stark Publications for gene: APP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.65 | APP | Zornitza Stark reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16178030, 11409420, 16612981; Phenotypes: Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v0.23 | CTSA |
Bryony Thompson gene: CTSA was added gene: CTSA was added to Stroke. Sources: Literature Mode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTSA were set to 27664989; 31177426; 23175731 Phenotypes for gene: CTSA were set to Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL) Review for gene: CTSA was set to AMBER Added comment: Three families reported with the same variant (c.973C > T), and a study mapping the condition to 20q13, where CTSA is located, but no sequencing conducted. Sources: Literature |
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| Stroke v0.0 | APP |
Bryony Thompson gene: APP was added gene: APP was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related |
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