OMIA:003058-9615 : Ataxia, SETX-related in Canis lupus familiaris (dog) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608465 (gene) , 602433 (trait) , 606002 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Shelton et al. (2026) report a homozygous frameshift variant in SETX (omia.variant:1902) as likely causal variant for a Jack Russell Terrier with ataxia.
Clinical features: Shelton et al. (2026) "describe an 8-year-old intact male Jack Russell Terrier with a 9-month history of slowly progressive gait disturbances that advanced over 2 years to generalized stiffness without ataxia and severe bilateral hyperflexion of all limbs. ... Complete blood count and serum biochemistry analysis including creatine kinase activity were normal. Electrophysiological examination showed no abnormalities. Muscle biopsy samples collected at a later stage of the disease showed no abnormalities."
Breed:
Jack Russell Terrier (Dog) (VBO_0200724).
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).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SETX | senataxin | Canis lupus familiaris | 9 | NC_051813.1 (52793044..52873500) | SETX | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1902 | Jack Russell Terrier (Dog) | Ataxia, SETX-related | SETX | insertion, small (<=20) | frameshift | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 9 | NC_049230.1:g.52007169_52007170dup | XM_038548937.1:c.1160_1161dup | XP_038404865.1:p.(N388Lfs*9) | published as chr9:52007168C > CCT, updated in this table to HGVS nomenclature | 2026 | 42105303 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003058-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Shelton, G.D., Bhatti, S.F.M., Van Ham, L., Friedenberg, S.G., Cullen, J.N., Guo, L.T., Minor, K.M. : |
| Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin). J Vet Intern Med 40:aalag085, 2026. Pubmed reference: 42105303. DOI: 10.1093/jvimsj/aalag085. |
Edit History
- Created by Imke Tammen2 on 12 May 2026