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  3. FAM83G
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Palmoplantar keratodermas

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: 3.14
Created: 31 Oct 2023, 4:59 p.m.
Last Modified: 31 Oct 2023, 4:59 p.m.
Panel version: 3.14

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, 3:04 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

Created: 5 May 2023, 3:04 p.m.
Last Modified: 5 May 2023, 3:04 p.m.
Panel version: 3.2

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

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

Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
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 29138053

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).

18 Feb 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to FAM83G.

28 Jan 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

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