Palmoplantar keratoderma and erythrokeratodermas

Gene: DSP

Green List (high evidence)

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.

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

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
  • 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
OMIM
125647
Clinvar variants
Variants in DSP
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

11 Apr 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for DSP were set to 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

10 Jan 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene DSP were set to Striate keratoderma with woolly hair and cardiomyopathy;Arrhythmogenic right ventricular dysplasia 8;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;Dilated cardiomyopathy with woolly hair and keratoderma;Epidermolysis bullosa, lethal acantholytic;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome;Dilated cardiomyopathy with woolly hair and keratoderma, 605676;Arrhythmogenic right ventricular dysplasia 8, 607450;Skin Fragility-Woolly Hair Syndrome;striate keratoderma;diffuse keratoderma;lethal acantholytic epidermolysis bullosa, 609638;alopecia, follicular hyperkeratoses and keratoderma;oligodontia or hypodontia

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

5 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DSP were set to 26303123; 11841538; 11063735; 10594734; 20738328; 19924139; 16628197; 16175511; 25516398; 22795705; 20940358

5 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for DSP were set to Striate keratoderma with woolly hair and cardiomyopathy; Arrhythmogenic right ventricular dysplasia 8; Keratosis palmoplantaris striata II, 612908; Dilated cardiomyopathy with woolly hair and keratoderma, 605676; Arrhythmogenic right ventricular dysplasia 8, 607450; Skin fragility-woolly hair syndrome, 607655; Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholytic; Keratosis palmoplantaris striata II; Skin fragility-woolly hair syndrome; Dilated cardiomyopathy with woolly hair and keratoderma, 605676; Arrhythmogenic right ventricular dysplasia 8, 607450; Skin Fragility-Woolly Hair Syndrome; striate keratoderma; diffuse keratoderma; lethal acantholytic epidermolysis bullosa, 609638; alopecia, follicular hyperkeratoses and keratoderma; oligodontia or hypodontia

5 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for DSP was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Oct 2015, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

DSP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene DSP was set to BIALLELIC, autosomal or pseudoautosomal

27 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DSP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN

27 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DSP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen

27 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DSP was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing, UKGTN

27 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DSP was created by ellenmcdonagh