OMIA 002119-9615 : Polyneuropathy, GJA9-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GJA9||gap junction protein, alpha 9, 59kDa||Canis lupus familiaris||15||NC_051819.1 (3983099..3985924)||GJA9||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|
|794||Leonberger||Polyneuropathy (LPN2)||GJA9||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||15||g.3863524_3863525del||c.1107_1108delAG||p.(A370Nfs*12)||2017||28841859|
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.
|2017||Becker, D., Minor, K.M., Letko, A., Ekenstedt, K.J., Jagannathan, V., Leeb, T., Shelton, G.D., Mickelson, J.R., Drögemüller, C. :|
|A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics 18:662, 2017. Pubmed reference: 28841859. DOI: 10.1186/s12864-017-4081-z.|
|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.|
- Created by Frank Nicholas on 28 Aug 2017
- Changed by Frank Nicholas on 01 Sep 2017
- Changed by Imke Tammen2 on 11 Dec 2020
- Changed by Imke Tammen2 on 11 Jul 2021