| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Defects of innate immunity v0.123 | PSEN1 | Zornitza Stark Marked gene: PSEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.123 | PSEN1 | Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.61 | PSEN1 | Bryony Thompson Classified gene: PSEN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.61 | PSEN1 | Bryony Thompson Gene: psen1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of innate immunity v0.60 | PSEN1 |
Bryony Thompson gene: PSEN1 was added gene: PSEN1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 20929727; 32048120; 33333507; 30544224 Phenotypes for gene: PSEN1 were set to ?Acne inversa, familial, 3 MIM#613737 Review for gene: PSEN1 was set to GREEN Added comment: 4 families (1 with segregation data) with 3 putative loss of function variants, and supporting functional assays demonstrating that loss of function is the mechanism of disease (unlike dominant-negative variants that cause Alzheimer's disease). Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||