Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Rare genetic inflammatory skin disorders v0.22 KRT10 Catherine Snow Source Expert Review Amber was added to KRT10.
Added phenotypes Ichythosis with confetti; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT10
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.22 KRT1 Catherine Snow Source Expert Review Amber was added to KRT1.
Added phenotypes Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis for gene: KRT1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v0.21 KRT10 Tom Cullup reviewed gene: KRT10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichythosis with confetti; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.21 KRT1 Tom Cullup reviewed gene: KRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichthyosis histrix; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v0.5 KRT10 Rebecca Foulger Source London North GLH was added to KRT10.
Rare genetic inflammatory skin disorders v0.5 KRT1 Rebecca Foulger Source London North GLH was added to KRT1.
Rare genetic inflammatory skin disorders v0.4 KRT10 Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.4 KRT1 Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare genetic inflammatory skin disorders v0.3 KRT10 Rebecca Foulger gene: KRT10 was added
gene: KRT10 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita
Rare genetic inflammatory skin disorders v0.3 KRT1 Rebecca Foulger gene: KRT1 was added
gene: KRT1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix