Incidentalome
Gene: DSP

DSP (desmoplakin)
EnsemblGeneIds (GRCh38): ENSG00000096696
EnsemblGeneIds (GRCh37): ENSG00000096696
OMIM: 125647, Gene2Phenotype
DSP is in 17 panels

2 reviews

Ivan Macciocca (Victorian Clinical Genetics Services)

reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308) - DEFINITIVE
Created: 27 May 2021, 5:14 a.m. | Last Modified: 27 May 2021, 5:14 a.m.

Panel Version: 0.47

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
ARVC, palmoplantar keratoderma, wool hair, Carvajal syndrome

Publications

33831308

Created: 27 May 2021, 5:14 a.m.
Last Modified: 27 May 2021, 5:14 a.m.
Panel version: Imported from Arrhythmogenic Cardiomyopathy panel version 0.47

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease associations.
Created: 12 Aug 2022, 12:36 a.m. | Last Modified: 12 Aug 2022, 12:36 a.m.

Panel Version: 0.129

Association of bi-allelic variants and Carvajal syndrome is also well established (ARVC, woolly hair, PPK), although ClinGen have only assessed association between mono-allelic variants and ARVC.
Created: 27 May 2021, 5:37 a.m. | Last Modified: 27 May 2021, 5:37 a.m.

Panel Version: 0.48

DEFINITIVE by ClinGen. Multiple families, gene-disease association supported by mouse model.
Created: 3 Oct 2020, 9:30 a.m. | Last Modified: 3 Oct 2020, 9:30 a.m.

Panel Version: 0.39

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic, MIM# 609638

Publications

Created: 3 Oct 2020, 9:30 a.m.
Last Modified: 3 Oct 2020, 9:30 a.m.
Panel version: 0.129

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821
Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
Epidermolysis bullosa, lethal acantholytic, MIM# 609638

Tags

cardiac

OMIM

125647

Clinvar variants

Variants in DSP

Penetrance

None

Publications

Panels with this gene