| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral amyloid angiopathy v0.5 | CST3 | Bryony Thompson Marked gene: CST3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.5 | CST3 | Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.5 | CST3 | Bryony Thompson Classified gene: CST3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.5 | CST3 | Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral amyloid angiopathy v0.4 | CST3 |
Bryony Thompson gene: CST3 was added gene: CST3 was added to Cerebral amyloid angiopathy. Sources: Expert list Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423 Phenotypes for gene: CST3 were set to Cerebral amyloid angiopathy MIM#105150 Mode of pathogenicity for gene: CST3 was set to Other Review for gene: CST3 was set to GREEN Added comment: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele genotype, combined OR 1.6. Sources: Expert list |
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