1. Panels
  2. Ichthyosis and erythrokeratoderma
  3. FAM83G
STRs in panel
Prev Next

Ichthyosis and erythrokeratoderma

Gene: FAM83G

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

3 reviews

Arina Puzriakova (Genomics England Curator)

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.
Created: 31 Oct 2023, 4:59 p.m. | Last Modified: 31 Oct 2023, 4:59 p.m.
Panel Version: 3.17
Created: 31 Oct 2023, 4:59 p.m.
Last Modified: 31 Oct 2023, 4:59 p.m.
Panel version: 3.17

Tom Cullup (Great Ormond Street Hospital)

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: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair

Publications

Created: 5 May 2023, 3:01 p.m.
Last Modified: 5 May 2023, 3:01 p.m.
Panel version: 3.3

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.
Created: 5 Jan 2017, 12:10 p.m.

Panel version: Imported from Palmoplantar keratoderma and erythrokeratodermas panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Palmoplantar keratoderma with leukonychia and abundant curly hair
OMIM
615886
Clinvar variants
Variants in FAM83G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FAM83G were set to

31 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fam83g has been classified as Amber List (Moderate Evidence).

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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