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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
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
Zoolyx
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
VHL Genetics/ Combibreed
VetGen LLC
Progènes-ADN
PharmaDNA
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
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
Laboratorios Labocor S.L.
The Royal Kennel Club
INNO
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
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
Certagen GmbH
BioBank AS
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
