OMIA 000420-9685 : Glycogen storage disease IV in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GBE1||glucan (1,4-alpha-), branching enzyme 1||Felis catus||C2||NC_018731.3 (34981283..34690586)||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|
|Glycogen storage disease IV||GBE1||complex rearrangement||g. IVS11+1552_IVS12-1339 del6.||2007||17257876|
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.
|2007||Fyfe, JC., Kurzhals, RL., Hawkins, MG., Wang, P., Yuhki, N., Giger, U., Van Winkle, TJ., Haskins, ME., Patterson, DF., Henthorn, PS. :|
|A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Mol Genet Metab 90:383-92, 2007. Pubmed reference: 17257876. DOI: 10.1016/j.ymgme.2006.12.003.|
|1996||Coates, J.R., Paxton, R., Cox, N.R., Braund, K.G., Steiss, J.E., Baker, H.J., Simpson, S.T. :|
|A case presentation and discussion of type IV glycogen storage disease in a Norwegian forest cat Progress in Veterinary Neurology 7:5-11, 1996.|
|1992||Fyfe, J.C., Giger, U., Vanwinkle, T.J., Haskins, M.E., Steinberg, S.A., Wang, P., Patterson, D.F. :|
|Glycogen Storage Disease Type-IV - Inherited Deficiency of Branching Enzyme Activity in Cats Pediatric Research 32:719-725, 1992. Pubmed reference: 1337588.|
- Created by Frank Nicholas on 17 Aug 2007
- Changed by Frank Nicholas on 09 Dec 2011