OMIA 002016-9615 : Van den Ende-Gupta syndrome in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SCARF2||scavenger receptor class F, member 2||Canis lupus familiaris||26||NC_051830.1 (31652659..31641745)||SCARF2||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|
|552||Wirehaired Fox Terrier||Van den Ende-Gupta syndrome||SCARF2||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||26||g.30237714_30237715del||c.1873_1874del||p.(S625Gfs*15)||XM_022410347.1; XP_022266055.1; published as c.865_866delTC, p.(S289Gfs*15); coordinates in the table have been updated to a recent reference genome and / or transcript||2016||27187611|
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.
|2016||Hytönen, M.K., Lohi, H. :|
|Canine models of human rare disorders. Rare Dis 4:e1241362, 2016. Pubmed reference: 27803843. DOI: 10.1080/21675511.2016.1241362.|
|Hytönen, M.K., Arumilli, M., Lappalainen, A.K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C., Lohi, H. :|
|Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS Genet 12:e1006037, 2016. Pubmed reference: 27187611. DOI: 10.1371/journal.pgen.1006037.|
- Created by Frank Nicholas on 27 May 2016
- Changed by Frank Nicholas on 15 May 2020