Spongy Degeneration with Cerebella Ataxia Subtype 1, KCNJ10-related
            Breed: Belgian Shepherd Dog/ Laekenois
        
        
        
        
    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 
                
            
            
        
        
        
            GTPs
        
    
    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
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
        
    
    
            15
            
        
        Agrotis S.r.l.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Agrotis S.r.l.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        BioBank AS
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            BioBank AS
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        DNA My Dog
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            DNA My Dog
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
        
        
            This test is outsourced to:
        
    
    
            Orivet
            
        
        
        
            FCI Number
        
    
    
            15
            
        
        
        
            GTP Breed
        
    
    
            Belgian shepherd dog/ Laekenois
            
        
        Laboratorios Labocor S.L.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboratorios Labocor S.L.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        Certagen GmbH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Certagen GmbH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        Wisdom Panel - Kinship
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Wisdom Panel - Kinship
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
        
        
            FCI Number
        
    
    
            15
            
        
        
        
            GTP Breed
        
    
    
            Belgian shepherd dog/ Laekenois
            
        
        VHL Genetics/ Combibreed
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VHL Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        Zoolyx
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Zoolyx
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        VetGen LLC
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VetGen LLC
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            unpublished
            
        
        CMSCH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            CMSCH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        Progènes-ADN
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Progenes ADN
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        Independent Veterinary Laboratory POISK
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Independent Veterinary Laboratory POISK
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Spongy Degeneration with Cerebellar ataxia Subtype 1
            
        
        
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        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.986T>C
            
        
        
        
            Mutation Comment
        
    
    
            g.22140659T>C
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            15
            
        
        
        
            GTP Breed
        
    
    
            Belgian shepherd dog/ Laekenois
            
        
        EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C
            
        
        Orivet Genetic Pet Care
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Orivet Genetic Pet Care
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
        
        
            FCI Number
        
    
    
            15
            
        
        
        
            GTP Breed
        
    
    
            Belgian shepherd dog/ Laekenois
            
        
        Generatio GmbH Center for Animal Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Generatio GmbH Center for Animal Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Spongy Degeneration with Cerebellar ataxia Subtype 1
            
        
        
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    PharmaDNA
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            PharmaDNA
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        INNO
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            INNO
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            KCNJ10
            
        
        
        
            Mutation
        
    
    
            c.986T>C; c.627C>G
            
        
        
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