Dilated cardiomyopathy - adult and teen

Gene: DSP

Green List (high evidence)

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

8 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton ACM panel. Definitive ARVC gene (also autosomal recessive syndromic DCM)
Created: 19 Sep 2019, 8:59 p.m. | Last Modified: 19 Sep 2019, 8:59 p.m.
Panel Version: 0.44

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

Phenotypes
Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with woolly hair and keratoderma; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
DSP is a green gene on the Arrhythmogenic cardiomyopathy (code: 134, version 1.25). It has been promoted from amber to green in this panel as the GMS Cardiology Specialist Group decided that all green genes that are present on the Arrhythmogenic cardiomyopathy panel should also be green on this panel because of the overlap in clinical presentation.
Created: 4 Sep 2019, 10:51 a.m. | Last Modified: 4 Sep 2019, 10:51 a.m.
Panel Version: 0.37

Rebecca Whittington (South West GLH)

Green List (high evidence)

Arrhythmogenic right ventricular dysplasia 8 (607450) Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 309 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with arrhythmogenic right ventricular dysplasia 8 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arrhythmogenic right ventricular dysplasia 8 (607450); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821); Epidermolysis bullosa, lethal acantholytic (609638); Keratosis palmoplantaris striata II (612908); Skin fragility-woolly hair syndrome (607655)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Inheritance correct for this panel (checked vs OMIM), but should be biallelic in dilated cardiomyopathy panel
Created: 17 Dec 2015, 11:24 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert List
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic (609638)
  • Skin fragility-woolly hair syndrome (607655)
  • Arrhythmogenic right ventricular dysplasia 8
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
  • Arrhythmogenic right ventricular dysplasia 8 (607450)
  • Keratosis palmoplantaris striata II (612908)
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
OMIM
125647
Clinvar variants
Variants in DSP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: DSP was added gene: DSP was added to Dilated cardiomyopathy - adult and teen. Sources: Expert Review Green,Expert List Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSP were set to 23500315; 27532257 Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic (609638); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821); Arrhythmogenic right ventricular dysplasia 8 (607450); Keratosis palmoplantaris striata II (612908); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)