Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Palmoplantar keratodermas v3.15 FAM83G Arina Puzriakova Publications for gene: FAM83G were set to 29138053
Palmoplantar keratodermas v3.14 FAM83G Arina Puzriakova Classified gene: FAM83G as Amber List (moderate evidence)
Palmoplantar keratodermas v3.14 FAM83G Arina Puzriakova Added comment: Comment on list classification: Upgraded rating from Red to Amber inline with expert review by Tom Cullup (GOSH) to facilitate further gathering of data where appropriate which could potentially support future promotion to Green.
Palmoplantar keratodermas v3.14 FAM83G Arina Puzriakova Gene: fam83g has been classified as Amber List (Moderate Evidence).
Palmoplantar keratodermas v3.2 FAM83G Tom Cullup reviewed gene: FAM83G: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29138053, 31656861, 29963719; Phenotypes: palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v0.5 FAM83G Rebecca Foulger Source London North GLH was added to FAM83G.
Palmoplantar keratodermas v0.4 FAM83G Rebecca Foulger reviewed gene: FAM83G: Rating: RED; Mode of pathogenicity: ; Publications: 29138053; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.3 FAM83G Rebecca Foulger gene: FAM83G was added
gene: FAM83G was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to 29138053
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma