Palmoplantar keratodermas

Gene: DSC3

Green List (high evidence)

DSC3 (desmocollin 3)
EnsemblGeneIds (GRCh38): ENSG00000134762
EnsemblGeneIds (GRCh37): ENSG00000134762
OMIM: 600271, Gene2Phenotype
DSC3 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high 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: DSC3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; 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.

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • London North GLH
  • Expert Review Green
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair
Clinvar variants
Variants in DSC3
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to DSC3.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DSC3 was added gene: DSC3 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC3 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair