OMIA:003046-9615 : Retinal atrophy, progressive, CACNA1F-related in Canis lupus familiaris (dog) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300110 (gene) , 300476 (trait) , 300071 (trait) , 300600 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: X-linked recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Species-specific name: X-linked progressive retinal atrophy
Molecular basis: Bionda et al. (2026) identified a 1-bp deletion in exon 36 of the CACNA1F gene (NC_049260.1:g.42,516,353del; XM_038587436.1:c.4,481del, XP_038443364.1:p.Phe1482LeufsTer8; omia.variant:1881) as likely causal variant for a novel form of X-linked progressive retinal atrophy in related English Cocker Spaniel dogs.
Clinical features: Bionda et al. (2026) report related male English Cocker Spaniel dogs with a progressive vision deficit. Retinal pathology was recorded around 3-4 years of age with a possible earlier onset of visual impairment.
Breed:
English Cocker Spaniel (Dog) (VBO_0200486).
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 |
|---|---|---|---|---|---|---|
| CACNA1F | calcium voltage-gated channel subunit alpha1 F | Canis lupus familiaris | X | NC_051843.1 (42469408..42444658) | CACNA1F | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1881 | English Cocker Spaniel (Dog) | Retinal atrophy, progressive, CACNA1F-related | CACNA1F | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | X | NC_049260.1:g.42516353del | XM_038587436.1:c.4481del | XP_038443364.1:(F1482Lfs*8) | 2026 | 41882631 |
* 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
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003046-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Bionda, A., Liotta, L., Floridia, V., Niggel, J.K., Giretto, D., Crepaldi, P., Aguirre, G.D., Murgiano, L. : |
| Deletion in CACNA1F gene causes X-linked progressive retinal atrophy in English Cocker Spaniel dogs. BMC Vet Res , 2026. Pubmed reference: 41882631. DOI: 10.1186/s12917-026-05421-y. |
Edit History
- Created by Imke Tammen2 on 31 Mar 2026
- Changed by Imke Tammen2 on 31 Mar 2026