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Ataxia, cerebellar, ATP1B2-related
Breed: Belgian Shepherd Dog/ Malinois
Generic Phene Data
Breeds
Relevance Rating: There is moderate 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 in this breed
General
Disease Name
Ataxia, cerebellar, ATP1B2-related
OMIA
2110
Gene Name
ATP1B2
Mutation
c.130_131insLT796559.1
Mutation 2
g.32551064_32551065insLT796559
Test Type
Genetic Disease/Disorder
Details
SDCA2 is a form of spongy degeneration with cerebellar ataxia affecting the Belgian Shepherd Dog. Age of onset 4 weeks of age. Symptoms include generalized ataxic gait, seizures, and pacing as well as circling and central blindness - with rapid progression. Seizures may cause death. Histopathological examination revealed vacuolation of the neuropil, and neuronal necrosis and severe gliosis in the spinal cord. In the hippocampus, neuronal necrosis and presence of hypertrophic astrocytes with vesicular nuclei are present, similar as in Alzheimer type II cells.
Details 2
SDCA2 is a form of spongy degeneration with cerebellar ataxia affecting the Belgian Shepherd Dog. Age of onset 4 weeks of age. Symptoms include generalized ataxic gait, seizures, and pacing as well as circling and central blindness, with rapid progression in severity. Seziures may cause death.
Published
Inheritance
AR
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 3
Gene Name
ATP1B2
Mutation
c.130_131ins227
Nature of test
mutation test
FCI Number
15
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Spongy Degeneration with Cerebellar Ataxia subtype 3
Gene Name
ATP1B2
Mutation
c.130_131ins[LT796559.1:g.50_276]
Mutation Comment
g.32551064_32551065ins[LT796559.1:g.50_276]
Nature of test
mutation test
FCI Number
15
GTP Breed
Belgian shepherd dog/ Malinois
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ATP1B2
Mutation
c.130_131ins227
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