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
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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 | 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| 1852 | Cerebellar abiotrophy | CACNA2D2 | Not currently evaluated | UNPUBLISHED | 2025 | Reference not in PubMed; see OMIA 003025-9913 for reference details |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
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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| UNPUBLISHED , 2025.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