OMIA 001913-9615 : Ataxia, cerebellar, juvenile to adolescent, RAB24-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RAB24||RAB24, member RAS oncogene family||Canis lupus familiaris||4||NC_051808.1 (36421312..36427353)||RAB24||Homologene, Ensembl, NCBI gene|
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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|
|88||Gordon Setter Old English Sheepdog||Ataxia, cerebellar, in Old English Sheepdogs and Gordon Setters||RAB24||missense||Naturally occurring variant||CanFam3.1||4||g.36055678A>C||c.113A>C||p.(Q38P)||XM_005619162.3; XP_005619219.1||2014||24516392||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.
|2014||Agler, C., Nielsen, D.M., Urkasemsin, G., Singleton, A., Tonomura, N., Sigurdsson, S., Tang, R., Linder, K., Arepalli, S., Hernandez, D., Lindblad-Toh, K., van de Leemput, J., Motsinger-Reif, A., O'Brien, D.P., Bell, J., Harris, T., Steinberg, S., Olby, N.J. :|
|Canine hereditary ataxia in Old English Sheepdogs and Gordon Setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet 10:e1003991, 2014. Pubmed reference: 24516392. DOI: 10.1371/journal.pgen.1003991.|
|2000||Steinberg, K.S., Van, Winkle, T., Bell, J.S., de, Lahunta, A. :|
|Cerebellar degeneration in Old English Sheepdogs Journal of the American Veterinary Medical Association 217:1162-1165, 2000. Pubmed reference: 11043686.|
|1985||Troncoso, J.C., Cork, L.C., Price, D.L. :|
|Canine inherited ataxia: ultrastructural observations. J Neuropathol Exp Neurol 44:165-75, 1985. Pubmed reference: 3973637.|
|1984||Tiemeyer, M.J., Singer, H.S., Troncoso, J.C., Cork, L.C., Coyle, J.T., Price, D.L. :|
|Synaptic neurochemical alterations associated with neuronal degeneration in an inherited cerebellar ataxia of Gordon Setters. J Neuropathol Exp Neurol 43:580-91, 1984. Pubmed reference: 6502189.|
|1981||Steinberg, H.S., Troncoso, J.C., Cork, L.C., Price, D.L. :|
|Clinical features of inherited cerebellar degeneration in Gordon Setters Journal of the American Veterinary Medical Association 179:886-890, 1981. Pubmed reference: 7341602.|
|1980||Delahunta, A., Fenner, W.R., Indrieri, P.J., Mellick, P.W., Gardner, S., Bell, J.S. :|
|Hereditary cerebellar cortical abiotrophy in the Gordon Setter Journal of the American Veterinary Medical Association 177:538-541, 1980. Pubmed reference: 7440348.|
- Created by Frank Nicholas on 18 Feb 2014
- Changed by Frank Nicholas on 18 Feb 2014
- Changed by Tosso Leeb on 19 Jan 2017
- Changed by Tosso Leeb on 02 Mar 2017
- Changed by Tosso Leeb on 07 Jul 2017