Cerebellar abiotrophy, CACNA2D2-related
Phenotype Details
- Phene ID
- 6716
- Name
- Cerebellar abiotrophy, CACNA2D2-related
- Phene Name
- N/A
- OMIA ID
- 3025
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2026
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1852 | Cerebellar abiotrophy | 398299068 | 1 | 22 | NC_037349.1:g.49970603T>C | XM_024983269.1:c.1183T>C | XP_024839037.1:p.(C395R) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
Molecular Genetics
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."