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Ichthyosis and erythrokeratoderma v3.18 FAM83G Arina Puzriakova Publications for gene: FAM83G were set to
Ichthyosis and erythrokeratoderma v3.17 FAM83G Arina Puzriakova Classified gene: FAM83G as Amber List (moderate evidence)
Ichthyosis and erythrokeratoderma v3.17 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.
Ichthyosis and erythrokeratoderma v3.17 FAM83G Arina Puzriakova Gene: fam83g has been classified as Amber List (Moderate Evidence).
Ichthyosis and erythrokeratoderma v3.3 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
Ichthyosis and erythrokeratoderma v0.3 FAM83G Ellen McDonagh gene: FAM83G was added
gene: FAM83G was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma with leukonychia and abundant curly hair