OMIA 001944-9615 : Spondylocostal dysostosis, autosomal recessive in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HES7||hes family bHLH transcription factor 7||Canis lupus familiaris||5||NC_051809.1 (33052693..33047237)||HES7||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|
|535||Miniature Schnauzer||Spondylocostal dysostosis, autosomal recessive||HES7||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||5||g.32945846del||c.126delG||p.(T43Pfs*24)||2015||25659135|
|2015||Willet, C.E., Makara, M., Reppas, G., Tsoukalas, G., Malik, R., Haase, B., Wade, C.M. :|
|Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs. PLoS One 10:e0117055, 2015. Pubmed reference: 25659135. DOI: 10.1371/journal.pone.0117055.|
- Created by Frank Nicholas on 08 Feb 2015
- Changed by Frank Nicholas on 08 Feb 2015
- Changed by Frank Nicholas on 10 Feb 2015
- Changed by Frank Nicholas on 04 Apr 2017
- Changed by Frank Nicholas on 02 Jun 2017
- Changed by Cali Willet on 02 Jun 2017