Palmoplantar keratoderma and erythrokeratodermas

Gene: FAM83G

Red List (low evidence)

FAM83G (family with sequence similarity 83 member G)
EnsemblGeneIds (GRCh38): ENSG00000188522
EnsemblGeneIds (GRCh37): ENSG00000188522
OMIM: 615886, Gene2Phenotype
FAM83G is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Palmoplantar keratoderma with leukonychia and abundant curly hair
OMIM
615886
Clinvar variants
Variants in FAM83G
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

23 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

23 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

FAM83G was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen

5 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

FAM83G was created by rfoulger