OMIA 002105-9615 : Neuroaxonal dystrophy, PLA2G6-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PLA2G6||phospholipase A2, group VI (cytosolic, calcium-independent)||Canis lupus familiaris||10||NC_006592.3 (26499033..26559533)||PLA2G6||Homologene, Ensembl, NCBI gene|
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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Papillon||Neuroaxonal dystrophy, PLA2G6-related||PLA2G6||missense||CanFam3.1||10||g.26544820G>A||c.1579G>A||p.T527A||2017||28107443||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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||Tsuboi, M., Watanabe, M., Nibe, K., Yoshimi, N., Kato, A., Sakaguchi, M., Yamato, O., Tanaka, M., Kuwamura, M., Kushida, K., Ishikura, T., Harada, T., Chambers, J.K., Sugano, S., Uchida, K., Nakayama, H. :|
|Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. PLoS One 12:e0169002, 2017. Pubmed reference: 28107443. DOI: 10.1371/journal.pone.0169002.|
|2009||Nibe, K., Nakayama, H., Uchida, K. :|
|Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. Vet Pathol 46:474-83, 2009. Pubmed reference: 19176506. DOI: 10.1354/vp.08-VP-0156-U-FL.|
|2007||Diaz, JV., Duque, C., Geisel, R. :|
|Neuroaxonal dystrophy in dogs: case report in 2 litters of Papillon puppies. J Vet Intern Med 21:531-4, 2007. Pubmed reference: 17552463.|
|Nibe, K., Kita, C., Morozumi, M., Awamura, Y., Tamura, S., Okuno, S., Kobayashi, T., Uchida, K. :|
|Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. J Vet Med Sci 69:1047-52, 2007. Pubmed reference: 17984592.|
|Tamura, S., Tamura, Y., Uchida, K. :|
|Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. J Small Anim Pract 48:458-61, 2007. Pubmed reference: 17543020. DOI: 10.1111/j.1748-5827.2006.00304.x.|
|1995||Franklin, R.J.M., Jeffery, N.D., Ramsey, I.K. :|
|Neuroaxonal dystrophy in a litter of papillon pups Journal of Small Animal Practice 36:441-444, 1995. Pubmed reference: 8583759.|
- Created by Frank Nicholas on 12 May 2017
- Changed by Frank Nicholas on 12 May 2017