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OMIA 002095-9615 : Epilepsy, generalized myoclonic, with photosensitivity in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 607862 (gene)

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

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
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
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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