DES Chromosome 2
Desmin
Upload your DNA to see your personal genotypes for variants in DES.
What This Gene Does
This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Intermediate filaments Type III
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000175084
Associated Conditions (21)
Cardiomyopathy
Desmin-related myofibrillar myopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome
Kaeser type
Arrhythmogenic right ventricular cardiomyopathy
DES-related disorder
Left ventricular noncompaction cardiomyopathy
See cases
Primary familial hypertrophic cardiomyopathy
Neuromuscular disease
Primary dilated cardiomyopathy
Primary familial dilated cardiomyopathy
Dilated cardiomyopathy 1S
Congenital diaphragmatic hernia
Myofibrillar myopathy
Bradycardia
Progressive familial heart block
Limb-girdle muscular dystrophy
+1 more conditions
Key Variants
RS1014762661
Conflicting classifications of pathogenicity
Cardiomyopathy, Desmin-related myofibrillar myopathy, Cardiovascular phenotype
Health Risk
RS1057523274
Conflicting classifications of pathogenicity
Desmin-related myofibrillar myopathy, Cardiovascular phenotype, Desmin-related myofibrillar myopathy
Health Risk
RS1064794869
Conflicting classifications of pathogenicity
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
Health Risk
RS112224037
Conflicting classifications of pathogenicity
Desmin-related myofibrillar myopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1I
Health Risk
RS1157722667
Conflicting classifications of pathogenicity
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
Health Risk
RS121913002
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy, Cardiovascular phenotype
Health Risk
RS1292042317
Conflicting classifications of pathogenicity
Desmin-related myofibrillar myopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1I
Health Risk
RS1339030541
Conflicting classifications of pathogenicity
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
Health Risk
RS1400593451
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Desmin-related myofibrillar myopathy
Health Risk
RS140222667
Conflicting classifications of pathogenicity
Neurogenic scapuloperoneal syndrome, Kaeser type, Dilated cardiomyopathy 1I
Health Risk
RS140375681
Conflicting classifications of pathogenicity
Desmin-related myofibrillar myopathy, Cardiomyopathy, Desmin-related myofibrillar myopathy
Health Risk
RS143154982
Conflicting classifications of pathogenicity
Desmin-related myofibrillar myopathy, Cardiovascular phenotype, DES-related disorder
Health Risk
All Variants (181)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS267607484 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS397516698 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS57965306 | Health Risk | Pathogenic | Neurogenic scapuloperoneal syndrome, Kaeser type, Desmin-related myofibrillar myopathy |
| RS58409037 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS58898021 | Health Risk | Pathogenic | Myofibrillar myopathy, Myofibrillar myopathy |
| RS59308628 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS60538473 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS61726467 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS62636495 | Health Risk | Pathogenic | Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy, Primary dilated cardiomyopathy |
| RS730880289 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS769096434 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS774739275 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS886043000 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS886043080 | Health Risk | Pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS985650778 | Health Risk | Pathogenic | — |
| RS121913003 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS1273708097 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS1954358233 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS1954365477 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS1954374671 | Health Risk | Pathogenic/Likely pathogenic | DES-related disorder, Desmin-related myofibrillar myopathy, DES-related disorder |
| RS2125168897 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Desmin-related myofibrillar myopathy, Cardiovascular phenotype |
| RS267607485 | Health Risk | Pathogenic/Likely pathogenic | Myofibrillar myopathy, Desmin-related myofibrillar myopathy, Myofibrillar myopathy |
| RS267607490 | Health Risk | Pathogenic/Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy, Desmin-related myofibrillar myopathy |
| RS267607495 | Health Risk | Pathogenic/Likely pathogenic | Primary dilated cardiomyopathy, Neuromuscular disease, Desmin-related myofibrillar myopathy |
| RS398122940 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the musculature, Desmin-related myofibrillar myopathy, Abnormality of the musculature |
| RS57639980 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS58999456 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Primary familial dilated cardiomyopathy, Desmin-related myofibrillar myopathy |
| RS62635763 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Cardiovascular phenotype, Desmin-related myofibrillar myopathy |
| RS781590560 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome |
| RS794728996 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS959034410 | Health Risk | Pathogenic/Likely pathogenic | Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |