OMIA:002835-9615 : Immunodeficiency, CARMIL2-related in Canis lupus familiaris (dog) |
Categories: Respiratory system phene , Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610859 (gene) , 618131 (trait)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: Coffey et al. (2024) "report the discovery of a CARMIL2 nonsense variant in three Cavalier King Charles Spaniel dogs with either PCP [Pneumocystis pneumonia] (n = 2) or refractory Bordetella pneumonia (n = 1). ... Deleterious CARMIL2 variants have recently been reported in human patients with PCP and other recurrent pneumonias. In addition to opportunistic respiratory infection, the affected dogs also exhibited other clinical manifestations of CARMIL2 deficiencies that have been reported in humans, including early-onset gastrointestinal disease, allergic skin disease, mucocutaneous lesions, abscesses, autoimmune disorders, and gastrointestinal parasitism."
Breed:
Cavalier King Charles Spaniel (Dog) (VBO_0200309).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CARMIL2 | capping protein regulator and myosin 1 linker 2 | Canis lupus familiaris | 5 | NC_051809.1 (82240296..82227854) | CARMIL2 | Homologene, 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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1674 | Cavalier King Charles Spaniel (Dog) | Immunodeficiency, CARMIL2-related | CARMIL2 | missense | Naturally occurring variant | CanFam3.1 | 5 | g.81801920G>A | c.871C>T | p.(R291*) | NC_006587.3; XM_022419456.1; XP_022275164.1 | rs3330142729 | 2024 | 38535207 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002835-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Coffey, E.L., Ma, L., Cissé, O.H., Kovacs, J.A., Minor, K.M., Sukura, A., Danesi, P., Friedenberg, S.G., Cullen, J.N., Weissenbacher-Lang, C., Nadeau, J.C., Graham, A.M., Granick, M.N., Branson, N.K., Branson, K.C., Blasi, B., Jacobs, C.M., Furrow, E. : |
| A novel CARMIL2 immunodeficiency identified in a subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella pneumonia. J Fungi (Basel) 10:198, 2024. Pubmed reference: 38535207. DOI: 10.3390/jof10030198. |
Edit History
- Created by Imke Tammen2 on 07 Apr 2024