OMIA:003025-9913 : Cerebellar abiotrophy, CACNA2D2-related in Bos taurus (taurine cattle) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607082 (gene) , 618501 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Jacinto et al. (2026): "Genetic analysis [of two affected Angus calvse] identified a private homozygous missense variant [omia.variant:1852] in the bovine CACNA2D2 gene (XP_024839037.1:p.(Cys395Arg)), which is linked to neurological disorders in other species, including a form of cerebellar atrophy in humans."
Clinical features: Jacinto et al. (2026) reported two Angus calves with "intention tremors, postural instability, and proprioceptive deficits."
Pathology: Jacinto et al. (2026) conducted histopathological investigation of affected Angus calves which identified "pronounced Purkinje cell pathology and internal granule layer depletion consistent with severe cerebellar cortical degeneration."
Breed:
Angus (Cattle) (VBO_0000104).
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 |
|---|---|---|---|---|---|---|
| CACNA2D2 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Bos taurus | 22 | NC_037349.1 (49846538..49986838) | CACNA2D2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1852 | Angus (Cattle) | Cerebellar abiotrophy | CACNA2D2 | substitution | missense | Naturally occurring variant | Not currently evaluated | ARS-UCD1.3 | 22 | NC_037349.1:g.49970603T>C | XM_024983269.1:c.1183T>C | XP_024839037.1:p.(C395R) | 2026 | 41873845 |
* 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:003025-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2026 | Jacinto, J., Chianini, F., Moore, J., Geraghty, T., Häfliger, I.M., Seefried, F.R., Jones, A., Carty, H., Letko, A., Drögemüller, C. : |
| A CACNA2D2-related recessive form of cerebellar abiotrophy in Angus cattle. Anim Genet 57:e70086, 2026. Pubmed reference: 41873845. DOI: 10.1002/age.70086. | |
| 1993 | Mitchell, P.J., Reilly, W., Harper, P.A.W., McCaughan, C.J. : |
| Cerebellar abiotrophy in Angus cattle Australian Veterinary Journal 70:67-68, 1993. Pubmed reference: 8457177. DOI: 10.1111/j.1751-0813.1993.tb15145.x. |
Edit History
- Created by Imke Tammen2 on 28 Nov 2025
- Changed by Imke Tammen2 on 26 Mar 2026
- Changed by Imke Tammen2 on 27 Mar 2026