Dilated and arrhythmogenic cardiomyopathy
Gene: DSP
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
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
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 geneCreated: 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
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.
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
Comment when marking as ready: Inheritance correct for this panel (checked vs OMIM), but should be biallelic in dilated cardiomyopathy panelCreated: 17 Dec 2015, 11:24 a.m.
Publications for gene: DSP were set to 23500315; 27532257
Phenotypes for gene: DSP were changed from 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) to Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
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)