Palmoplantar keratodermas

Gene: DSC2

The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 31 Jan 2023, 2:38 p.m. | Last Modified: 31 Jan 2023, 2:38 p.m.

Panel Version: 2.6

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

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