Palmoplantar keratoderma and erythrokeratodermas

Gene: FAM83G

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. Already Amber on GMS equivalent panels (R166 and R165)

Created: 9 Oct 2025, 3:58 p.m. | Last Modified: 9 Oct 2025, 3:58 p.m.

Panel Version: 1.33

I don't know

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: 1.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair

Publications

• PMID: 29138053
• 31656861
• 29963719

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.