Dilated Cardiomyopathy, (DCM); Schnauzer
            Breed: Giant Schnauzers
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Dilated Cardiomyopathy, (DCM); Schnauzer
            
        
        
        
            OMIA
        
    
    
            -42
            
        
        
        
            Gene Name
        
    
    
            RBM20
            
        
        
        
            Mutation
        
    
    
            c.2472_2493delGAAGGTCAAAATCTGCCCAGA
            
        
        
        
            Mutation 2
        
    
    
            c.2472_2493del
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            "This disease condition is a frequent cause of disability and premature death in dogs. Breed-to-breed differences in ages at onset, survival times, inheritance patterns, and myocardial histopathology, are indicative of major genetic contributions... Although DCM has probably occurred in most if not all dog breeds, several reports have focused on the DCM-associated epidemiology, clinical characteristics, laboratory findings and histopathology in certain breeds with a high prevalence of the disease including Boxer, Doberman Pinscher, Great Dane, Irish Wolfhound, Newfoundland, and Portuguese Water Dog. The ages at onset of clinical signs ranged from 0.9 to 2.9 years. The familial relationships between affected dogs was consistent with an autosomal recessive mode of inheritance. Here we report that a whole genome sequence from one of the affected Standard Schnauzers contained a rare an RBM20 deletion and frameshift that is the apparent cause of DCM in the breed." [From Gilliam et al. 2016]
            
        
        
        
            Published
        
    
    
            Gilliam, H. Douglas Jr. (2016): Molecular Genetic Studies of Canine Inherited Diseases Including Sams, Neuronal Ceroid Lipofuscinosis and Dilated Cardiomyopathy. A Dissertation presented to the Faculty of the Graduate School University of Missouri.
            
        
        
        
            Body/System/Process
        
    
    
            Cardiovascular
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
        HSP Test-Specific Data
EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RBM20
            
        
        
        
            Mutation
        
    
    
            c.2472_2493del
            
        
        The Royal Kennel Club
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            The Kennel Club
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RBM20
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        
        
            This test is outsourced to:
        
    
    
            Weatherby's
            
        
        Weatherbys Scientific
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Weatherbys Scientific
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RBM20
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
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