Palmoplantar keratoderma and erythrokeratodermas
Gene: FAM83G
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
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.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
FAM83G was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen
FAM83G was created by rfoulger