DSP Chromosome 6
Desmoplakin
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What This Gene Does
This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
"Plakins|Spectrin repeat containing"
Locus Type
gene with protein product
Location
6p24.3
Ensembl
ENSG00000096696
Associated Conditions (65)
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cardiovascular phenotype
6 conditions
Cardiomyopathy
dilated
with wooly hair
keratoderma
and tooth agenesis
Lethal acantholytic epidermolysis bullosa
Keratosis palmoplantaris striata 2
Primary familial hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Woolly hair-skin fragility syndrome
Long QT syndrome
DSP-related disorder
Right ventricular cardiomyopathy
Wolff-Parkinson-White pattern
Familial restrictive cardiomyopathy
Primary dilated cardiomyopathy
+45 more conditions
Key Variants
RS1008407158
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1019692996
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1028793473
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
Health Risk
RS1033990351
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
Health Risk
RS1037212969
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
Health Risk
RS1040120840
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1040353645
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1041054817
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1043978096
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1044309736
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
Health Risk
RS1044634464
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
Health Risk
RS1050258732
Conflicting classifications of pathogenicity
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Health Risk
All Variants (1313)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS794728136 | Health Risk | Pathogenic/Likely pathogenic | Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy |
| RS794728137 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS794728142 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS794728143 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS794728146 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS796620239 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS869025395 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS876657638 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS879254353 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype |
| RS879255521 | Health Risk | Pathogenic/Likely pathogenic | Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS886038929 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS886039343 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype |
| RS935685902 | Health Risk | Pathogenic/Likely pathogenic | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype |