Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606512 (gene)

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: no

Molecular basis: Jin et al. (2026) used whole-genome sequencing to investigate a Border Collie with early-onset progressive ataxia. ... Genomic analyses prioritized a heterozygous splice-donor variant in PACSIN1 [chr12:3,985,222 T > G] as a candidate for further study. Given incomplete breeding records, PACSIN1 remains a strong candidate rather than a confirmed causal gene." 

Clinical features: Jin et al. (2026) report a Border Collie "exhibiting abnormal hindlimb movements at 6–8 months of age, with rapid disease progression thereafter ... . The primary clinical manifestations included unstable gait, aberrant hindlimb motions, and diminished motor coordination. Gait observation showed that [the dog] had broad-based stance/gait and dysmetria, consistent with clinical characteristics of cerebellar ataxia ... . MRI revealed widened cerebellar folial spaces and reduced bilateral cerebellar gray matter volume, without global brain atrophy or spinal cord lesioning."

Breed: Border Collie (Dog) (VBO_0200193).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).