Palmoplantar keratodermas

Gene: DSC2

Green List (high evidence)

DSC2 (desmocollin 2)
EnsemblGeneIds (GRCh38): ENSG00000134755
EnsemblGeneIds (GRCh37): ENSG00000134755
OMIM: 125645, Gene2Phenotype
DSC2 is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

MOI should be changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BIALLELIC, autosomal or pseudoautosomal" as only homozygous variants in this gene has been reported with the palmoplantar keratoderma phenotype.

Review by Rebecca Foulger in the Palmoplantar keratoderma and erythrokeratodermas panel (ID:215):
"Comment on mode of inheritance: Recorded mode of inheritance as 'Biallelic' to match reviewer suggestion: Although OMIM records both biallelic and monoallelic DSC2 mutations for 'Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair' (OMIM:610476), the reported cases (PMID:18957847 and PMID:23863954) identify homozygous mutations. Heterozygous mutations are noted for 'Arrhythmogenic right ventricular dysplasia 11' (also OMIM:610476) but these don't include the relevant PPK phenotype.
Created: 10 Jan 2017, 2:32 p.m."
Created: 1 Nov 2021, 2:24 p.m. | Last Modified: 1 Nov 2021, 2:24 p.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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: DSC2; 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair
Tags
Q4_21_MOI
OMIM
125645
Clinvar variants
Variants in DSC2
Penetrance
None
Panels with this gene

History Filter Activity

1 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: DSC2.

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to DSC2.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DSC2 was added gene: DSC2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC2 were set to Desmosomal disorders; Palmoplantar keratoderma, woolly hair