Molecular autopsy
Gene: DSP
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
Source London South GLH was added to DSP.
Source North West GLH was added to DSP. Added phenotypes Keratosis palmoplantaris striata II (612908); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8 (607450); Epidermolysis bullosa, lethal acantholytic (609638); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821) for gene: DSP Publications for gene DSP were changed from to 27532257; 23500315
gene: DSP was added gene: DSP was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair and keratoderma