OMIA:003025-9913 : Cerebellar abiotrophy, CACNA2D2-related (inactive) 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: unknown

Disease-related: unknown

Species summary: inactive - paper under review

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

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 Pathogenicity Classification* Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1852 Cerebellar abiotrophy CACNA2D2 Not currently evaluated UNPUBLISHED 2025 Reference not in PubMed; see OMIA 003025-9913 for reference details

* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee

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. (2025). OMIA:003025-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2025 [No authors listed] :
UNPUBLISHED , 2025.

Edit History


  • Created by Imke Tammen2 on 28 Nov 2025