Spongy Degeneration with Cerebellar Ataxia (KCNJ10) Overview
Spongy Degeneration with Cerebellar Ataxia (KCNJ10)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene: Potassium voltage-gated channel subfamily J member 10 (KCNJ10) on Chromosome 38
Variant Detected: Base Substitution c.986T>C p.Leu329Pro
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Research Citation(s): Mauri, N. et al. A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). (2017) G3 7(2);663-669.
Associated Breed(s): Belgian Groenendael Shepherd, Belgian Lakenois Shepherd, Belgian Malinois Shepherd, Belgian Tervueren Shepherd , Mixed Breed,