Paediatric or syndromic cardiomyopathy
Gene: DSC2
DSC2 (desmocollin 2)
EnsemblGeneIds (GRCh38): ENSG00000134755
EnsemblGeneIds (GRCh37): ENSG00000134755
OMIM: 125645, Gene2Phenotype
DSC2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000134755
EnsemblGeneIds (GRCh37): ENSG00000134755
OMIM: 125645, Gene2Phenotype
DSC2 is in 10 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
Arrhythmogenic right ventricular dysplasia 11 OMIM#610476;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair OMIM#610476Created: 25 Mar 2019, 4:30 p.m.
Syrris Am. J. Hum. Genet. 2006;79:978984 - reported a 15 year old deceased with ARVC and a DSC2 variant. Literature: Dal Ferro 2017 - 1 LP vairant assoc with DCM. Some suggestion that can be associated with DCM but not strong.Though ARVC may present in LV or biventricular and may appear to be DCM. On Oxford DCM panel. HGMD: only 9 DSC2 variants assoc with DCM in HGMD and only 2 deemed DM, neither has freq on GnomAD. Summary: some evidence of gene associated with DCM but rare.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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Green
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
- Arrhythmogenic right ventricular dysplasia 11
- OMIM
- 125645
- Clinvar variants
- Variants in DSC2
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Palmoplantar keratodermas
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
2 Dec 2019, Gel status: 3
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to DSC2.
4 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DSC2 was added gene: DSC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; Arrhythmogenic right ventricular dysplasia 11