Dilated Cardiomyopathy, (DCM); Schnauzer
Breed: Schnauzer
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
RBM20
Mutation
c.2472_2493del
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
RBM20
Mutation
c.2472_2493del
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
Nature of test
mutation test
FCI Number
-72
GTP Breed
Schnauzer
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
RBM20
Mutation
unpublished
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA