Sudden cardiac death - previous panel
Gene: DSC2EnsemblGeneIds (GRCh38): ENSG00000134755
EnsemblGeneIds (GRCh37): ENSG00000134755
OMIM: 125645, Gene2Phenotype
DSC2 is in 10 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. 88 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: association with arrhythmogenic right ventricular dysplasia 11 (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 11 (610476); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
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
-
- Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
- Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
- Arrhythmogenic right ventricular dysplasia 11
- Arrhythmogenic right ventricular dysplasia 11 (610476)
- OMIM
- 125645
- Clinvar variants
- Variants in DSC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated and arrhythmogenic cardiomyopathy
- Palmoplantar keratoderma and erythrokeratodermas
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Palmoplantar keratodermas
- Ichthyosis and erythrokeratoderma
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DSC2 was added gene: DSC2 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DSC2 were set to 27532257; 23500315 Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476); Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 (610476)