Sudden cardiac death - previous panel
Gene: DSPEnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
- Skin fragility-woolly hair syndrome (607655)
- Dilated cardiomyopathy with woolly hair and keratoderma
- Epidermolysis bullosa, lethal acantholytic (609638)
- Arrhythmogenic right ventricular dysplasia 8 (607450)
- Arrhythmogenic right ventricular dysplasia 8
- Keratosis palmoplantaris striata II (612908)
- Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
- OMIM
- 125647
- Clinvar variants
- Variants in DSP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- Ectodermal dysplasia
- Dilated Cardiomyopathy and conduction defects
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Epidermolysis bullosa and congenital skin fragility
- Ichthyosis and erythrokeratoderma
- Hereditary neuropathy or pain disorder
- Epidermolysis bullosa
- Ectodermal dysplasia without a known gene mutation
- DDG2P
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
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 Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSP were set to 27532257; 23500315 Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Skin fragility-woolly hair syndrome (607655); Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholytic (609638); Arrhythmogenic right ventricular dysplasia 8 (607450); Arrhythmogenic right ventricular dysplasia 8; Keratosis palmoplantaris striata II (612908); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)