Palmoplantar keratodermasGene: DSC2
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
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
Tag Q4_21_MOI tag was added to gene: DSC2.
Source London North GLH was added to DSC2.
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