OMIA 000844-9685 : Pyruvate kinase deficiency of erythrocyte in Felis catus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
PKLR | pyruvate kinase deficiency | Felis catus | - | no genomic information (-..-) | PKLR | Homologene, 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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
899 | Abyssinian Brazilian Somali | Pyruvate kinase deficiency of erythrocyte | PKLR | splicing | Naturally occurring variant | Felis_catus_9.0 | F1 | g.70310110G>A | c.707-53G>A | XM_023247386.1:c.707-53G>A; published as c.693+304G>A | 2012 | 23110753 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770) |
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.
2021 | Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. : | |
A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7. | ||
2015 | Kushida, K., Giger, U., Tsutsui, T., Inaba, M., Konno, Y., Hayashi, K., Noguchi, K., Yabuki, A., Mizukami, K., Kohyama, M., Endo, Y., Yamato, O. : | |
Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. J Vet Med Sci 77:743-6, 2015. Pubmed reference: 25716288. DOI: 10.1292/jvms.14-0600. | ||
2012 | Grahn, R.A., Grahn, J.C., Penedo, M.C., Helps, C.R., Lyons, L.A. : | |
Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res 8:207, 2012. Pubmed reference: 23110753. DOI: 10.1186/1746-6148-8-207. | ||
2009 | Barrs, VR., Giger, U., Wilson, B., Chan, CT., Lingard, AE., Tran, L., Seng, A., Canfield, PJ., Beatty, JA. : | |
Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. Aust Vet J 87:39-44, 2009. Pubmed reference: 19178476. DOI: 10.1111/j.1751-0813.2008.00381.x. | ||
2008 | Kohn, B., Fumi, C. : | |
Clinical course of pyruvate kinase deficiency in Abyssinian and Somali cats. J Feline Med Surg 10:145-53, 2008. Pubmed reference: 18077199. DOI: 10.1016/j.jfms.2007.09.006. | ||
van Geffen, C., Savary-Bataille, K., Chiers, K., Giger, U., Daminet, S. : | ||
Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat. J Small Anim Pract 49:479-82, 2008. Pubmed reference: 12022416. | ||
2007 | Harvey, AM., Holt, PE., Barr, FJ., Rizzo, F., Tasker, S. : | |
Treatment and long-term follow-up of extrahepatic biliary obstruction with bilirubin cholelithiasis in a Somali cat with pyruvate kinase deficiency. J Feline Med Surg 9:424-31, 2007. Pubmed reference: 17475529. DOI: 10.1016/j.jfms.2007.02.003. | ||
2006 | Harvey, J.W. : | |
Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses. Vet Clin Pathol 35:144-56, 2006. Pubmed reference: 16783707. | ||
2005 | Kohn, B., Fumi, C., Seng, A., Giger, U. : | |
Anaemia due to erythrocytic pyruvate kinase deficiency in Somali and Abyssinian cats in Germany Kleintierpraxis 50:305-312, 2005. | ||
Mansfield, CS., Clark, P. : | ||
Pyruvate kinase deficiency in a Somali cat in Australia. Aust Vet J 83:483-5, 2005. Pubmed reference: 16119420. | ||
2000 | Kohn, B., Goldschmidt, MH., Hohenhaus, AE., Giger, U. : | |
Anemia, splenomegaly, and increased osmotic fragility of erythrocytes in Abyssinian and Somali cats. J Am Vet Med Assoc 217:1483-91, 2000. Pubmed reference: 11128538. | ||
1997 | Giger, U., Rajpurohit, Y., Wang, P., Ford, S., Kohn, B., Patterson, D.F., Beutler, E., Henthorn, P.S. : | |
Molecular basis of erythrocyte pyruvate kinase (R-PK) deficiency in cats Blood 90S:5, 1997. | ||
1992 | Ford, S., Giger, U., Duesberg, C., Beutler, E., Wang, P. : | |
Inherited erythrocyte pyruvate kinase (PK) deficiency causing haemolytic anaemia in an Abyssinian cat (Abstract) J Vet Intern Med. 6:123, 1992. |
Edit History
- Created by Frank Nicholas on 26 Nov 2007
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 08 Oct 2011
- Changed by Frank Nicholas on 17 Nov 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Sep 2012
- Changed by Frank Nicholas on 14 Nov 2012
- Changed by Frank Nicholas on 23 Nov 2012
- Changed by Frank Nicholas on 28 Nov 2012
- Changed by Imke Tammen2 on 17 Sep 2021