OMIA:003045-9615 : Autoimmune lymphoproliferative syndrome, FAS-related in Canis lupus familiaris (dog) |
Categories: Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 134637 (gene) , 601859 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Cross-species summary: Autoimmune lymphoproliferative syndrome, type IA
Breed:
Boerboel (Dog) (VBO_0200185).
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 |
|---|---|---|---|---|---|---|
| FAS | Fas cell surface death receptor | Canis lupus familiaris | 26 | NC_051830.1 (40322559..40347441) | FAS | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1880 | Boerboel (Dog) | Autoimmune lymphoproliferative syndrome | FAS | duplication | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 26 | NC_049247.1:g.39040590_39040603 | XM_038576079.1:c.179_192dup | XP_038432007.1:p.(P65Vfs*54) | 2026 | 41742579 |
* 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. (2026). OMIA:003045-9615: 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 | Tong, L.J., Friedenberg, S.G., Cullen, J.N., Hamsher, H., Minor, K.M., Furrow, E., Vernau, W., Horgan, L., Stayt, J., Hespel, A., Reppas, G., Malik, R. : |
| Autoimmune lymphoproliferative syndrome in Boerboel dogs: clinicopathologic, diagnostic, and genetic characterization. J Vet Intern Med 40:aalag011, 2026. Pubmed reference: 41742579. DOI: 10.1093/jvimsj/aalag011. | |
| Tong, L.J., Kocic, D., Horgan, L., Malik, R. : | |
| Autoimmune lymphoproliferative syndrome in Boerboel dogs: treatment, clinical outcomes and prevention. J Vet Intern Med 40:aalag010, 2026. Pubmed reference: 41742581. DOI: 10.1093/jvimsj/aalag010. |
Edit History
- Created by Imke Tammen2 on 23 Mar 2026