Dilated and arrhythmogenic cardiomyopathy

Gene: DSP

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

• 29567486

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

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

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

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.

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

• 23500315
• 27532257

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

Green List (high evidence)

Green List (high evidence)

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.