OMIA 000578-9544 : Krabbe disease in Macaca mulatta
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GALC||galactosylceramidase||Macaca mulatta||7||NC_041760.1 (150104678..150047244)||GALC||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|
|517||Krabbe disease||GALC||deletion, small (<=20)||Naturally occurring variant||c.387delAC||1997||9192853|
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.
|2022||Hordeaux, J., Jeffrey, B.A., Jian, J., Choudhury, G.R., Michalson, K., Mitchell, T.W., Buza, E.L., Chichester, J., Dyer, C., Bagel, J., Vite, C.H., Bradbury, A.M., Wilson, J.M. :|
|Efficacy and safety of a Krabbe disease gene therapy. Hum Gene Ther :, 2022. Pubmed reference: 35333110. DOI: 10.1089/hum.2021.245.|
|2016||Bongarzone, E.R., Escolar, M.L., Gray, S.J., Kafri, T., Vite, C.H., Sands, M.S. :|
|Insights into the pathogenesis and treatment of Krabbe disease. Pediatr Endocrinol Rev 13 Suppl 1:689-96, 2016. Pubmed reference: 27491217.|
|2015||Graziano, A.C., Cardile, V. :|
|History, genetic, and recent advances on Krabbe disease. Gene 555:2-13, 2015. Pubmed reference: 25260228. DOI: 10.1016/j.gene.2014.09.046.|
|1998||Baskin, G.B., Ratterree, M., Davison, B.B., Falkenstein, K.P., Clarke, M.R., England, J.D., Vanier, M.T., Luzi, P., Rafi, M.A., Wenger, D.A. :|
|Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, krabbe-disease) in rhesus monkeys (macaca mulatta) Laboratory Animal Science 48:476-482, 1998. Pubmed reference: 10090061.|
|1997||Luzi, P., Rafi, M.A., Victoria, T., Baskin, G.B., Wenger, D.A. :|
|Characterization of the rhesus monkey galactocerebrosidase (galc) cdna and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate Genomics 42:319-324, 1997. Pubmed reference: 9192853. DOI: 10.1006/geno.1997.4744.|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 12 Mar 2018