OMIA 002165-9615 : classical Ehlers-Danlos syndrome (cEDS), COL5A1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL5A1||collagen, type V, alpha 1||Canis lupus familiaris||9||NC_051813.1 (51583512..51733920)||COL5A1||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|
|1124||Labrador Retriever||Ehlers-Danlos syndrome, classic type, 1||COL5A1||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||9||g.50806169del||c.3038del||p.(G1013Vfs*260)||XM_022423936.1; XP_022279644.1; published as c.3038delG - "variant arose by a de novo mutation event during the development of the mother." (Bauer et al., 2019)||2019||31546637|
|1125||Mixed breed||Ehlers-Danlos syndrome, classic type, 1||COL5A1||missense||Naturally occurring variant||CanFam3.1||9||g.50832936G>A||c.4711G>A||p.(G1571R)||XM_022423936.1,c.4711G>A; XP_022279644.1,p.(Gly1571Arg)||2019||31546637|
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.
|2021||Roberts, J.H., Halper, J. :|
|Connective tissue disorders in domestic animals. Adv Exp Med Biol 1348:325-335, 2021. Pubmed reference: 34807427. DOI: 10.1007/978-3-030-80614-9_15.|
|Vroman, R., Malfait, A.M., Miller, R.E., Malfait, F., Syx, D. :|
|Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet 12:726474, 2021. Pubmed reference: 34712265. DOI: 10.3389/fgene.2021.726474.|
|2020||Malfait, F., Castori, M., Francomano, C.A., Giunta, C., Kosho, T., Byers, P.H. :|
|The Ehlers-Danlos syndromes. Nat Rev Dis Primers 6:64, 2020. Pubmed reference: 32732924. DOI: 10.1038/s41572-020-0194-9.|
|2019||Bauer, A., Bateman, J.F., Lamandé, S.R., Hanssen, E., Kirejczyk, S.G.M., Yee, M., Ramiche, A., Jagannathan, V., Welle, M., Leeb, T., Bateman, F.L. :|
|Identification of two independent COL5A1 variants in dogs with Ehlers-Danlos syndrome. Genes (Basel) 10:, 2019. Pubmed reference: 31546637. DOI: 10.3390/genes10100731.|
- Created by Frank Nicholas on 26 Sep 2019
- Changed by Frank Nicholas on 26 Sep 2019
- Changed by Tosso Leeb on 26 Sep 2019
- Changed by Tosso Leeb on 02 Jun 2022