OMIA:001318-9615 : Elliptocytosis, SPTB-related in Canis lupus familiaris (dog) |
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 616649 (trait) , 617948 (trait) , 182870 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2009
Breed:
Mixed Breed (Dog) (VBO_0200902).
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 |
|---|---|---|---|---|---|---|
| SPTB | spectrin, beta, erythrocytic | Canis lupus familiaris | 8 | NC_051812.1 (39523986..39377314) | SPTB | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 37 | Mixed Breed (Dog) | Elliptocytosis | SPTB | missense | Naturally occurring variant | CanFam3.1 | 8 | g.39170437G>A | c.6119C>T | p.(T2020M) | NM_001220481.1; NP_001207410.1; published as c.6384C>T and p.(T2110M); coordinates in the table have been updated to a recent reference genome and / or transcript | 2009 | 19228356 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001318-9615: 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.
| 2009 | Di Terlizzi, R., Gallagher, PG., Mohandas, N., Steiner, LA., Dolce, KS., Guo, X., Wilkerson, MJ., Stockham, SL. : |
| Canine elliptocytosis due to a mutant beta-spectrin. Vet Clin Pathol 38:52-8, 2009. Pubmed reference: 19228356. DOI: 10.1111/j.1939-165X.2008.00092.x. | |
| 1999 | Mills, J.N., Marsden, C.A. : |
| Presumed hereditary elliptocytosis in a dog Aust Vet J 77:651-2, 1999. Pubmed reference: 10590790. DOI: 10.1111/j.1751-0813.1999.tb13153.x. |
Edit History
- Created by Frank Nicholas on 17 Jun 2009
- Changed by Frank Nicholas on 26 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Imke Tammen2 on 02 May 2023
- Changed by Imke Tammen2 on 18 Jun 2024