OMIA 001461-9615 : Gangliosidosis, GM2, type I (B variant) in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HEXA||hexosaminidase A (alpha polypeptide)||Canis lupus familiaris||30||NC_051834.1 (36068396..36041265)||HEXA||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.
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|
|26||Japanese Chin dog||Gangliosidosis, GM2, type I||HEXA||missense||Naturally occurring variant||CanFam3.1||30||g.35841247C>T||c.967G>A||p.(E323K)||2013||23266199||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.
|2016||Lawson, C.A., Martin, D.R. :|
|Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet 9:111-20, 2016. Pubmed reference: 27499644. DOI: 10.2147/TACG.S85354.|
|2013||Freeman, A.C., Platt, S.R., Vandenberg, M., Holmes, S., Kent, M., Rech, R., Howerth, E., Mishra, S., O'Brien, D.P., Wenger, D. :|
|GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. J Vet Intern Med 27:771-6, 2013. Pubmed reference: 23731274. DOI: 10.1111/jvim.12118.|
|Sanders, D.N., Zeng, R., Wenger, D.A., Johnson, G.S., Johnson, G.C., Decker, J.E., Katz, M.L., Platt, S.R., O'Brien, D.P. :|
|GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Mol Genet Metab 108:70-5, 2013. Pubmed reference: 23266199. DOI: 10.1016/j.ymgme.2012.11.008.|
|1985||Cummings, JF., Wood, PA., Walkley, SU., de Lahunta, A., DeForest, ME. :|
|GM2 gangliosidosis in a Japanese spaniel. Acta Neuropathol (Berl) 67:247-53, 1985. Pubmed reference: 2931941.|
- Created by Tosso Leeb on 25 May 2013
- Changed by Tosso Leeb on 25 May 2013
- Changed by Frank Nicholas on 25 May 2013
- Changed by Frank Nicholas on 26 Feb 2014