OMIA 001917-9615 : Polyneuropathy, ARHGEF10-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ARHGEF10||Rho guanine nucleotide exchange factor (GEF) 10||Canis lupus familiaris||16||NC_051820.1 (61970321..61881132)||ARHGEF10||Homologene, Ensembl, NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|960||Leonberger Saint Bernard||Polyneuropathy, ARHGEF10-related||ARHGEF10||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||16||g.54349199_54349208del||c.1955_1958+6del||XM_005630036.3; XP_005630093.1; published as c.1955_1958+6delCACGGTGAGC - eliminating the 3'-splice junction of exon 17 and creating an alternate splice site leading to a truncated protein||2014||25275565||Genomic coordinates in CanFam3.1 provided by Robert Kuhn|
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.
|2014||Ekenstedt, K.J., Becker, D., Minor, K.M., Shelton, G.D., Patterson, E.E., Bley, T., Oevermann, A., Bilzer, T., Leeb, T., Drögemüller, C., Mickelson, J.R. :|
|An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs. PLoS Genet 10:e1004635, 2014. Pubmed reference: 25275565. DOI: 10.1371/journal.pgen.1004635.|
|2011||Granger, N. :|
|Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J 188:274-85, 2011. Pubmed reference: 20638305. DOI: 10.1016/j.tvjl.2010.06.003.|
|Hultin Jäderlund, K., Baranowska Körberg, I., Nødtvedt, A. :|
|Inherited polyneuropathy in Leonberger dogs. J Vet Intern Med 25:997-1002, 2011. Pubmed reference: 21985135. DOI: 10.1111/j.1939-1676.2011.00785.x.|
|2003||Shelton, G.D., Podell, M., Poncelet, L., Schatzberg, S., Patterson, E., Powell, H.C., Mizisin, A.P. :|
|Inherited polyneuropathy in Leonberger dogs: a mixed or intermediate form of Charcot-Marie-Tooth disease? Muscle & Nerve 27:471-7, 2003. Pubmed reference: 12661049. DOI: 10.1002/mus.10350.|
- Created by Tosso Leeb on 02 Apr 2014
- Changed by Tosso Leeb on 02 Apr 2014
- Changed by Frank Nicholas on 04 Oct 2014
- Changed by Tosso Leeb on 16 Oct 2014
- Changed by Imke Tammen2 on 11 Dec 2020