Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Palmoplantar keratodermas v2.4 PERP Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: PERP.
Palmoplantar keratodermas v2.4 PERP Achchuthan Shanmugasundram Phenotypes for gene: PERP were changed from Dominant and Recessive Keratoderma to Olmsted syndrome-2, MIM# 619208, MONDO:003091; Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941; Ichthyosis, MONDO:0019269
Palmoplantar keratodermas v2.3 PERP Achchuthan Shanmugasundram Publications for gene: PERP were set to 30321533
Palmoplantar keratodermas v2.2 PERP Achchuthan Shanmugasundram Classified gene: PERP as Amber List (moderate evidence)
Palmoplantar keratodermas v2.2 PERP Achchuthan Shanmugasundram Gene: perp has been classified as Amber List (Moderate Evidence).
Palmoplantar keratodermas v2.1 PERP Achchuthan Shanmugasundram reviewed gene: PERP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31898316, 30321533, 31361044, 34265120, 34863005, 32593191; Phenotypes: Olmsted syndrome-2, MIM# 619208, MONDO:003091, Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941, Ichthyosis, MONDO:0019269, Alopecia universalis, Congenital hypotrichosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar keratodermas v0.5 PERP Rebecca Foulger Source London North GLH was added to PERP.
Palmoplantar keratodermas v0.4 PERP Rebecca Foulger reviewed gene: PERP: Rating: RED; Mode of pathogenicity: ; Publications: 30321533; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.3 PERP Rebecca Foulger gene: PERP was added
gene: PERP was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: PERP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PERP were set to 30321533
Phenotypes for gene: PERP were set to Dominant and Recessive Keratoderma