| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral amyloid angiopathy v0.14 | PSEN2 | Bryony Thompson Marked gene: PSEN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.14 | PSEN2 | Bryony Thompson Gene: psen2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.14 | PSEN2 | Bryony Thompson Classified gene: PSEN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.14 | PSEN2 | Bryony Thompson Gene: psen2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.13 | PSEN2 |
Bryony Thompson gene: PSEN2 was added gene: PSEN2 was added to Cerebral amyloid angiopathy. Sources: Literature Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN2 were set to 9450781; 26888304 Phenotypes for gene: PSEN2 were set to cerebral amyloid angiopathy MONDO:0005620 Mode of pathogenicity for gene: PSEN2 was set to Other Review for gene: PSEN2 was set to AMBER Added comment: Single PSEN2 variant (N141I) segregating with cerebral amyloid angiopathy in a single family (or possibly two families, not clear if the same family is referenced in both publications). Sources: Literature |
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