Dilated Cardiomyopathy, (DCM) DCM1 variant; Doberman Pinscher
Breed: Dobermann
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Dilated Cardiomyopathy, (DCM) DCM1 variant; Doberman Pinscher
OMIA
-45
Gene Name
DCM1
Gene Name 2
PDK4
Test Type
Genetic Disease/Disorder
Details
This is one risk variant associated with DCM in Dobermanns. It is reported that this variant is potentially associated with risk for US populations of Dobermanns, but not associated with European populations. Recommendations are that Dobermanns from US populations should test for DCM1 and DCM2 in the first instance, and DCM3 and DCM4 in the second instance. Dobermanns from European populations should test for DCM3 and DCM4 (as of 2023). It should be noted that as this is a risk variant test, there are specific guidelines and recommendations for reducing risks for passing on this inherited disease and assessing the dog's individual risk. Generally, risk increases both with multiple copies of specific risk variants, and with more than one DCM risk variant.
Application Information
Recommendations are that Dobermanns from US populations should test for DCM1 and DCM2 in the first instance, and DCM3 and DCM4 in the second instance. Dobermanns from European populations should test for DCM3 and DCM4.
Assay/Test Information
Linkage
Inheritance
RV
HSP Test-Specific Data
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PDK4
Mutation
unpublished
Key Comment