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_051824.1 (57202556..57210586) | DIRAS1 | Homologene, Ensembl, NCBI gene |
Variants
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Rhodesian Ridgeback | Epilepsy, generalized myoclonic, with photosensitivity | DIRAS1 | deletion, small (<=20) | CanFam3.1 | c.564_567delAGAC | 2017 | 28223533 |
References
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.
2018 | Wielaender, F., James, F.M.K., Cortez, M.A., Kluger, G., Neßler, J.N., Tipold, A., Lohi, H., Fischer, A. : | |
Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. J Vet Intern Med 32:428-432, 2018. Pubmed reference: 29194766. DOI: 10.1111/jvim.14892. | ||
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. |
Edit History
- Created by Frank Nicholas on 23 Feb 2017
- Changed by Frank Nicholas on 23 Feb 2017