Palmoplantar keratodermas

Gene: DSC1

Red List (low evidence)

DSC1 (desmocollin 1)
EnsemblGeneIds (GRCh38): ENSG00000134765
EnsemblGeneIds (GRCh37): ENSG00000134765
OMIM: 125643, Gene2Phenotype
DSC1 is in 1 panel

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: DSC1; Suggested initial gene rating: Red; 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.


  • London North GLH
  • Expert Review Red
  • Desmosomal disorders
Clinvar variants
Variants in DSC1
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 DSC1.

28 Jan 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: DSC1 was added gene: DSC1 was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: DSC1 was set to Phenotypes for gene: DSC1 were set to Desmosomal disorders