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Spongy Degeneration with Cerebella Ataxia Subtype 1, KCNJ10-related
Breed: Fox Terrier/ smooth
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
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
Spongy Degeneration with Cerebella Ataxia Subtype 1, KCNJ10-related
OMIA
2089
Gene Name
KCNJ10
Mutation
c.627C>G
Mutation 2
c.986T>C
Test Type
Genetic Disease/Disorder
Details
Ataxia seems to come in breed-related, or breed-specific types. It is characterized by uncoordinated movements, and can have a range of other movement-related symptoms. For this version, two types are described: Spinocerebellar ataxia with myokymia, seizures, or both (SAMS), and Spongy degeneration with cerebellar ataxia 1 (SDCA1). SAMS appears to relate to Russell terrier groups, with an average age of onest of the cerebellar ataxia between 2-6 monts. With the myokymia element, this range goes to 3-8 months. SDCA1 occurs in Belgian Malinois dogs and has an earlier age of onset than SAMS, between 4-13 weeks of age. Affected dogs showed shivering or twitching, and were unable to start walking without falling. Some dogs experience hearing (auditory) changes.
Details 2
Ataxia appears to manifest in breed-related, or breed-specific forms. Ataxia is characterized by uncoordinated movements, and can have a range of other symptoms. For this gene, there are two forms described: Spinocerebellar ataxia with myokymia, seizures, or both (SAMS), and Spongy degeneration with cerebellar ataxia 1 (SDCA1). SAMS appears to relate to Russell terrier groups, with an average age of onest of the cerebellar ataxia between 2-6 monts. With the myokymia element, this range goes to 3-8 months. SDCA1 occurs in Belgian Malinois dogs and has an earlier age of onset than SAMS, between 4-13 weeks of age. Affected dogs showed shivering or twitching, and were unable to start walking without falling. Some dogs experience hearing (auditory) changes.
Published
Gilliam, D., O'Brien, D.P., Coates, J.R., Johnson, G.S., Johnson, G.C., Mhlanga-Mutangadura, T., Hansen, L., Taylor, J.F., Schnabel, R.D. : A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med 28:871-7, 2014. Pubmed reference: 24708069. DOI: 10.1111/jvim.12355.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Smooth-Haired Fox Terrier, Belgian Shepherd, Jack Russell Terrier, Belgian Malinois, Parson Russell Terrier, Russell Terrier
Breed-specific 1
Smooth-Haired Fox Terrier
Breed-specific 1 Details
c.627C>G
Breed-specific 2
Belgian Malinois
Breed-specific 2 Details
c.986T>C
HSP Test-Specific Data
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
Canine Genetic Testing
GTP
GTP Name
Canine Genetic Testing
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Spongy Degeneration with Cerebellar ataxia Subtype 1
Gene Name
KCNJ10
Mutation
c.986T>C; c.627C>G
Nature of test
mutation test
FCI Number
12
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
GTP Test Information
Gilliam, D., O?Brien, D.P., Coates, J.R., Johnson, G.S., Johnson, G.C., Mhlanga-Mutangadura, T., Hansen, L., Taylor, J.F., Schnabel, R.D.: A homozygous KCNJ10 mutation in Jack Russell Terriers and rel
Details on the disease
Carriers may be bred to normal animals (N/sca x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/sca x N/sca) nor of affected animals (sca/sca) .Difficulty coordinating fine muscle movements and loss of balance ( 2-12 months of age). Sudden muscle contractions or tremors, seizures
GTP- or Breed-Specific Publications
AR
This test is outsourced to:
12
GTP Patents/ Licences/ Discovery
Smooth Fox Terrier
FCI Number
1
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Spongy Degeneration with Cerebellar ataxia Subtype 1
Gene Name
KCNJ10
Mutation
c.986T>C; c.627C>G
Nature of test
mutation test
FCI Number
12
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Spongy Degeneration with Cerebellar ataxia Subtype 1
Gene Name
KCNJ10
Mutation
c.627C>G
Mutation Comment
g.22140300C>G
Nature of test
mutation test
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
KCNJ10
Mutation
c.627C>G
FCI Number
1
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