OMIA 000420-9796 : Glycogen storage disease IV in Equus caballus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GBE1||glucan (1,4-alpha-), branching enzyme 1||Equus caballus||26||NC_009169.3 (8667550..8912224)||GBE1||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|
|American Quarter Horse||Glycogen storage disease IV||GBE1||nonsense (stop-gain)||c.102C>A||p.Y34*||2004||15366377|
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.
|2009||Tryon, RC., Penedo, MC., McCue, ME., Valberg, SJ., Mickelson, JR., Famula, TR., Wagner, ML., Jackson, M., Hamilton, MJ., Nooteboom, S., Bannasch, DL. :|
|Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J Am Vet Med Assoc 234:120-5, 2009. Pubmed reference: 19119976. DOI: 10.2460/javma.234.1.120.|
|2004||Ward, TL., Valberg, SJ., Adelson, DL., Abbey, CA., Binns, MM., Mickelson, JR. :|
|Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mamm Genome 15:570-7, 2004. Pubmed reference: 15366377.|
|2003||Ward, T.L., Valberg, S.J., Lear, T.L., Guérin, G., Milenkovic, D., Swinburne, J.E., Binns, M.M., Raudsepp, T., Skow, L., Chowdhary, B.P., Mickelson, J.R. :|
|Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses. Cytogenet Genome Res 102:201-6, 2003. Pubmed reference: 14970703. DOI: 10.1159/000075749.|
|2001||Valberg, S.J., Ward, T.L., Rush, B., Kinde, H., Hiraragi, H., Nahey, D., Fyfe, J., Mickelson, J.R. :|
|Glycogen branching enzyme deficiency in quarter horse foals Journal of Veterinary Internal Medicine 15:572-580, 2001. Pubmed reference: 11817063.|
- Created by Frank Nicholas on 03 Jul 2009
- Changed by Frank Nicholas on 11 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 17 Oct 2012