Ichthyosis and erythrokeratoderma
Gene: FAM83GComment 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.Created: 31 Oct 2023, 4:59 p.m. | Last Modified: 31 Oct 2023, 4:59 p.m.
Panel Version: 3.17
Only a single family reported to date, but with mouse and dog models which support causation. Please promote to amber in order to allow testing in patients with specific phenotype.Created: 5 May 2023, 3:01 p.m. | Last Modified: 5 May 2023, 3:01 p.m.
Panel Version: 3.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair
Publications
Comment when marking as ready: Insufficient evidence to support causation.Created: 23 Mar 2017, 11:25 a.m.
Comment on list classification: Kept rating as Red: Insufficient evidence to support causation of a PPK phenotype.Created: 23 Mar 2017, 10:45 a.m.
The association between FAM83G and Palmoplantar keratoderma comes from a 2016 conference: http://esdr2016.org/esdr-2016/plenary-2. Title:180 Mutations in FAM83G/PAWS1 cause autosomal recessive palmoplantar keratoderma with leukonychia and abundant curly hair.Created: 5 Jan 2017, 12:10 p.m.
Publications for gene: FAM83G were set to
Gene: fam83g has been classified as Amber List (Moderate Evidence).
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