OMIA:002095-9615 : Epilepsy, generalized myoclonic, with photosensitivity in Canis lupus familiaris |
Categories: Behaviour / neurological phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 607862 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2017
Molecular basis: Wielaender et al. (2017): "a 4-bp deletion in the exon 2 of the DIRAS1 gene (c.564_567delAGAC . . . CanFam3 . . . , resulting in a frameshift and a stop loss. . . . The genotyping of the DIRAS1 deletion in 14 clinically verified RR cases and 26 controls revealed a homozygous mutant genotype in all cases, a heterozygous genotype in the obligate carriers, and the homozygous wild-type genotype in controls."
Breed: Rhodesian Ridgeback.
Associated gene:
| 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
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 565 | Rhodesian Ridgeback | Epilepsy, generalized myoclonic, with photosensitivity | DIRAS1 | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 20 | g.56474668_56474671del | c.564_567del | p.(D189Afs*11) | XM_005633100.3; XP_005633157.1; published as DIRAS1:c.564_567delAGAC | 2017 | 28223533 | Genomic and protein coordinates in CanFam3.1 provided by Robert Kuhn |
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
- Changed by Frank Nicholas on 23 Feb 2017
- Created by Frank Nicholas on 23 Feb 2017