Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Rare genetic inflammatory skin disorders v0.22 | PSEN1 |
Catherine Snow Source Expert Review Amber was added to PSEN1. Added phenotypes ACNE INVERSA, FAMILIAL, 3; ACNINV3 for gene: PSEN1 Publications for gene PSEN1 were changed from to 20929727 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare genetic inflammatory skin disorders v0.21 | PSEN1 | Tom Cullup reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20929727; Phenotypes: ACNE INVERSA, FAMILIAL, 3, ACNINV3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare genetic inflammatory skin disorders v0.18 | PSEN1 |
Catherine Snow Source Expert Review Green was added to PSEN1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare genetic inflammatory skin disorders v0.17 | PSEN1 | Catherine Snow reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare genetic inflammatory skin disorders v0.16 | PSEN1 |
Catherine Snow gene: PSEN1 was added gene: PSEN1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |