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Episodic Falling
Breed: Cavalier King Charles Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is moderate 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
GTPs
General
Disease Name
Episodic Falling
OMIA
1592
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Test Type
Genetic Disease/Disorder
Details
Episodic falling is a neurological condition, induced by exercise, excitement or frustration, in which muscle tone increases. This means the dog is unable to relax its muscles, becomes rigid and falls over. Affected dogs usually start to demonstrate clinical signs before one year of age, with most cases having their first episode aged four to seven months. (from AHT, 2018) Not to be confused with simmilar appearing epilepsy.
Details 2
Episodic falling is a neurological condition, induced by exercise, excitement or frustration, in which muscle tone increases. This means the dog is unable to relax its muscles, becomes rigid and falls over. Affected dogs usually start to demonstrate clinical signs before one year of age, with most cases having their first episode aged four to seven months. (from AHT, 2018) Not to be confused with simmilar appearing epilepsy.
Published
Gill,J.L.,Tsai,K.L.,Krey,C.,Noorai,R.E.,Vanbellinghen,J.F.,Garosi,L.S.,Shelton,G.D.,Clark,L.A.,Harvey,R.J.: AcanineBCANmicrodeletionassociatedwithepisodicfallingsyndrome.NeurobiolDis45:130-6,2012.Pubmedreference:21821125.DOI:10.1016/j.nbd.2011.07.014.
Published 2
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8:e1002462, 2012. Pubmed reference: 22253609. DOI: 10.1371/journal.pgen.1002462.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Breed-specific 1
Cavalier King Charles Spaniel
Breed-specific 1 Details
Publication demonstrated strong association between mutation and disease. No functional evidence provided. Forman et al., (2012) Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genetics, 8, e1002462.
Breed-specific 2
Australian Cobberdog, Australian Labradoodle
Breed-specific 2 Details
unpublished
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, J.L., Tsai, K.L., Krey, C., Noorai, R.E., Vanbellinghen, J.F., Garosi, L.S., Shelton, G.D., Clark, L.A., Harvey, R.J. : A canine BCAN microdeletion associated with episodic falling syndrome.
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 2
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
This test is outsourced to:
Weatherby's
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Nature of test
mutation test
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, J.L., Tsai, K.L., Krey, C., Noorai, R.E., Vanbellinghen, J.F., Garosi, L.S., Shelton, G.D., Clark, L.A., Harvey, R.J. : A canine BCAN microdeletion associated with episodic falling syndrome.
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, J.L., Tsai, K.L., Krey, C., Noorai, R.E., Vanbellinghen, J.F., Garosi, L.S., Shelton, G.D., Clark, L.A., Harvey, R.J. : A canine BCAN microdeletion associated with episodic falling syndrome.
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
GTP- or Breed-Specific Publications
Gill, J.L., Tsai, K.L., Krey, C., Noorai, R.E., Vanbellinghen, J.F., Garosi, L.S., Shelton, G.D., Clark, L.A., Harvey, R.J. : A canine BCAN microdeletion associated with episodic falling syndrome.
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, J.L., Tsai, K.L., Krey, C., Noorai, R.E., Vanbellinghen, J.F., Garosi, L.S., Shelton, G.D., Clark, L.A., Harvey, R.J. : A canine BCAN microdeletion associated with episodic falling syndrome.
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, J.L., Tsai, K.L., Krey, C., Noorai, R.E., Vanbellinghen, J.F., Garosi, L.S., Shelton, G.D., Clark, L.A., Harvey, R.J. : A canine BCAN microdeletion associated with episodic falling syndrome.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gill, J.L., Tsai, K.L., Krey, C., Noorai, R.E., Vanbellinghen, J.F., Garosi, L.S., Shelton, G.D., Clark, L.A., Harvey, R.J. : A canine BCAN microdeletion associated with episodic falling syndrome.
Inheritance
AR
FCI Number
136
GTP Breed
Cavalier King Charles Spaniel
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Cavalier King Charles Spaniel Muscular Dystrophy
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
BCAN
Mutation
15.7kb microdeletion of exons 1, 2, and 3
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