Palmoplantar keratoderma and erythrokeratodermas
Gene: DSP

DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 15 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: 1 Green review plus >3 variants in unrelated families reported for various OMIM disorders featuring keratodermas including (OMIM:612908, OMIM:615821, OMIM:605676). Prior genetic testing of desmosomal genes (which includes DSP) is required for 'Striate keratoderma with woolly hair'. Not currently a confirmed DD gene for any disorders but plenty of literature linking DSP to palmoplantar keratoderma.
Created: 5 Jan 2017, 1:55 p.m.

Comment on mode of inheritance: -Keratosis palmoplantaris striata II (PPKS2, OMIM:612908) is caused by heterozygous mutations in DSP.
-Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (OMIM:615821) is caused by heterozygous mutations in DSP.
-Cardiomyopathy, dilated, with woolly hair and keratoderma (OMIM:605676) is caused by homozygous mutations in DSP.
Created: 5 Jan 2017, 1:41 p.m.

Created: 5 Jan 2017, 1:41 p.m.

Panel version: 0.14

Edel O'Toole (Queen Mary University of London)

Green List (high evidence)

Can be heterozygous, compound heterozygous and homozygous
Created: 16 Nov 2015, 7:38 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Striate keratoderma with woolly hair and cardiomyopathy; striate keratoderma; diffuse keratoderma; lethal acantholytic epidermolysis bullosa; skin fragility, alopecia, follicular hyperkeratoses and keratoderma; oligodontia or hypodontia

Publications

26303123
11841538
11063735
10594734
10332028
20738328
19924139 16628197 16175511 25516398 22795705 20940358

Created: 16 Nov 2015, 7:38 p.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Eligibility statement prior genetic testing
UKGTN

Phenotypes

Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
Keratosis palmoplantaris striata II, OMIM:612908 (AD)

OMIM

125647

Clinvar variants

Variants in DSP

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DSP were changed from Striate keratoderma with woolly hair and cardiomyopathy; Keratosis palmoplantaris striata II, 612908; CARVAJAL SYNDROME; Dilated cardiomyopathy with woolly hair and keratoderma, 605676; Arrhythmogenic right ventricular dysplasia 8, 607450; Skin fragility-woolly hair syndrome, 607655; Epidermolysis bullosa, lethal acantholytic; Keratosis palmoplantaris striata II; Skin fragility-woolly hair syndrome; striate keratoderma; diffuse keratoderma; lethal acantholytic epidermolysis bullosa, 609638; alopecia, follicular hyperkeratoses and keratoderma; oligodontia or hypodontia to Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Keratosis palmoplantaris striata II, OMIM:612908 (AD)

11 Apr 2017, Gel status: 4