OMIA 002095-9615 : Epilepsy, generalized myoclonic, with photosensitivity in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|DIRAS1||DIRAS family, GTP-binding RAS-like 1||Canis lupus familiaris||20||NC_006602.3 (56469283..56477314)||DIRAS1||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.
|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|
|Rhodesian Ridgeback||Epilepsy, generalized myoclonic, with photosensitivity||DIRAS1||deletion, small (<=20)||CanFam3.1||c.564_567delAGAC||2017||28223533|
|2017||Wielaender, F., Sarviaho, R., James, F., Hytönen, M.K., Cortez, M.A., Kluger, G., Koskinen, L.L., Arumilli, M., Kornberg, M., Bathen-Noethen, A., Tipold, A., Rentmeister, K., Bhatti, S.F., Hülsmeyer, V., Boettcher, I.C., Tästensen, C., Flegel, T., Dietschi, E., Leeb, T., Matiasek, K., Fischer, A., Lohi, H. :|
|Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1. Proc Natl Acad Sci U S A 114:2669-2674, 2017. Pubmed reference: 28223533. DOI: 10.1073/pnas.1614478114.|
- Created by Frank Nicholas on 23 Feb 2017
- Changed by Frank Nicholas on 23 Feb 2017