OMIA:003061-9615 : Leukoencephalomyelopathy, NECAP1-related in Canis lupus familiaris (dog) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 611623 (gene) , 615833 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Species summary: See also OMIA:002198-9615 : Retinal atrophy, progressive, NECAP1-related in Canis lupus familiaris (dog) for a different phenotype caused by variants in the same gene.
Species-specific name: Leukoencephalomyelopathy with oligodendroglial dysplasia, spinocerebellar ataxia
Molecular basis: Stee et al. (2026): "A disease-associated nonsense variant in NECAP1 (NC_049248.1:g.8636271G>A on chromosome 27), introducing a stop codon at codon 48 (XM_038576681.1:c.142C>T (p.Arg48*)) [omia.variant:1908] and truncating the only isoform by 83%, was identified by whole genome sequencing (WGS). The variant segregated in the affected family with a recessive mode of inheritance, but was not present in 158 undiagnosed Belgian Malinois from the Belgian population. The exact same variant, as well as another NECAP1 variant (c.301 + 1G>A), have been associated with early onset epileptic encephalopathy (EOEE) in humans, a disease that is characterized by intractable epileptic seizures and profound global developmental delay in young children."
Clinical features: Stee et al. (2026): "A 7-month-old Belgian Malinois puppy was presented for progressively worsening ataxia and episodes of aggression. General physical examination was unremarkable, and neurological examination revealed ambulatory tetraparesis, spinocerebellar ataxia, thoracic limb pseudo-hypermetria, exaggerated head movements, bilateral vestibular signs and a bilateral divergent strabismus. A magnetic resonance imaging (MRI) of the brain and cervical spinal cord revealed a generalized cerebral atrophy."
Pathology: Stee et al. (2026): "Histopathology of the brain revealed diffuse and widespread oligodendroglial dysplasia with myelinated fibers disorganization."
Breed:
Belgian Shepherd Dog, Malinois (Dog) (VBO_0200147).
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 |
|---|---|---|---|---|---|---|
| NECAP1 | NECAP endocytosis associated 1 | Canis lupus familiaris | 27 | NC_051831.1 (37814521..37826493) | NECAP1 | Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1908 | Belgian Shepherd Dog, Malinois (Dog) | Leukoencephalomyelopathy | NECAP1 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 27 | NC_049248.1:g.8636271G>A | XM_038576681.1:c.142C>T | XM_038576681.1:c.142C>T (p.R48*) | 2026 | 42366163 |
* 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.
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003061-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Stee, K., Van Poucke, M., Huguet, J.A., Batlle, M.P., Kromhout, K., Versnaeyen, H., Van Ongeval, A., Dumoulin, R., Bhatti, S.F.M., Peelman, L., Cornelis, I. : |
| A NECAP1 nonsense variant is associated with leukoencephalomyelopathy with oligodendroglial dysplasia in a Belgian Malinois with spinocerebellar ataxia. Anim Genet 57:e70156, 2026. Pubmed reference: 42366163. DOI: 10.1002/age.70156. |
Edit History
- Created by Imke Tammen2 on 02 Jul 2026
- Changed by Imke Tammen2 on 02 Jul 2026