OMIA 001595-9940 : Brachygnathia, cardiomegaly and renal hypoplasia syndrome in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|OBSL1||obscurin-like 1||Ovis aries||2||NC_056055.1 (221493937..221466653)||OBSL1||Homologene, Ensembl, NCBI gene|
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|
|1242||Merino||Brachygnathia, cardiomegaly and renal hypoplasia syndrome||OBSL1||deletion, small (<=20)||Naturally occurring variant||Oar_rambouillet_v1.0||2||g.236304072del||c.1716del||p.(V573Wfs*119)||XM_027965226.1:c.1716delC||2020||32933480||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager & Shernae Woolley, EMAI, NSW Department of Primary Industries. 210906 To conform with HGVS notation, FN removed the nucleotide from g.236304072delG and c.1716delC|
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.
|2020||Woolley, S.A., Hayes, S.E., Shariflou, M.R., Nicholas, F.W., Willet, C.E., O'Rourke, B.A., Tammen, I. :|
|Molecular basis of a new ovine model for human 3M syndrome-2. BMC Genet 21:106, 2020. Pubmed reference: 32933480. DOI: 10.1186/s12863-020-00913-8.|
|2013||Shariflou, M.R., Wade, C.M., Kijas, J., McCulloch, R., Windsor, P.A., Tammen, I., Nicholas, F.W. :|
|Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2. Anim Genet 44:231-3, 2013. Pubmed reference: 22762779. DOI: 10.1111/j.1365-2052.2012.02392.x.|
|2011||Shariflou, M., Wade, C., Windsor, P., Tammen, I., James, J.W., Nicholas, F.W. :|
|Lethal genetic disorder in Poll Merino/Merino sheep in Australia. Aust Vet J 89:254-9, 2011. Pubmed reference: 21696373. DOI: 10.1111/j.1751-0813.2011.00789.x.|
- Created by Frank Nicholas on 03 Aug 2011
- Changed by Frank Nicholas on 06 Jul 2012
- Changed by Frank Nicholas on 26 Aug 2013
- Changed by Imke Tammen2 on 18 Sep 2020
- Changed by Imke Tammen2 on 19 Sep 2020