| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Dementia v2.7 | ADAM17 | Bryony Thompson Marked gene: ADAM17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.7 | ADAM17 | Bryony Thompson Gene: adam17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.7 | ADAM17 | Bryony Thompson Classified gene: ADAM17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.7 | ADAM17 | Bryony Thompson Gene: adam17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v2.6 | ADAM17 |
Bryony Thompson gene: ADAM17 was added gene: ADAM17 was added to Early-onset Dementia. Sources: Literature Mode of inheritance for gene: ADAM17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADAM17 were set to 29988083 Phenotypes for gene: ADAM17 were set to Alzheimer disease MONDO:0004975 Review for gene: ADAM17 was set to AMBER Added comment: PMID 29988083 reports nine individuals from six families carrying a single heterozygous ADAM17 p.R215I missense variants that co‑segregate with autosomal‑dominant late‑onset Alzheimer disease; functional assays show loss‑of‑function. Sources: Literature |
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