Palmoplantar keratodermas
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: 3.14
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, 3:04 p.m. | Last Modified: 5 May 2023, 3:04 p.m.
Panel Version: 3.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair
Publications
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: FAM83G; Suggested initial gene rating: Red; Evidence for inclusion: PMID:29138053; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Publications
Publications for gene: FAM83G were set to 29138053
Gene: fam83g has been classified as Amber List (Moderate Evidence).
Source London North GLH was added to FAM83G.
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