Palmoplantar keratodermas

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)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Palmoplantar keratoderma
OMIM
615886
Clinvar variants
Variants in FAM83G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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