OMIA 002176-9940 : Meckel-like hepatorenal fibrocystic dysplasia syndrome in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TMEM67||transmembrane protein 67||Ovis aries||9||NC_056062.1 (83421974..83377520)||TMEM67||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|
|1042||Coopworth Perendale||Meckel-like hepatorenal fibrocystic dysplasia syndrome||TMEM67||haplotype||Naturally occurring variant||Oar_rambouillet_v1.0||9||g.[91651651A>C;91651669A>T]||c.[2042T>A;2060T>G]||p.[(I681N);(I687S)]||Published as c.[2050T>A; 2068T>G]; protein and cDNA positions in the table are based on XP_012039520.2 and XM_012184130.2, respectively.||rs1086155906; rs1088172192||2017||28487520||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
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.
|2017||Stayner, C., Poole, C.A., McGlashan, S.R., Pilanthananond, M., Brauning, R., Markie, D., Lett, B., Slobbe, L., Chae, A., Johnstone, A.C., Jensen, C.G., McEwan, J.C., Dittmer, K., Parker, K., Wiles, A., Blackburne, W., Leichter, A., Leask, M., Pinnapureddy, A., Jennings, M., Horsfield, J.A., Walker, R.J., Eccles, M.R. :|
|An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Sci Rep 7:1601, 2017. Pubmed reference: 28487520. DOI: 10.1038/s41598-017-01519-4.|
|2005||Johnstone, AC., Davidson, BI., Roe, AR., Eccles, MR., Jolly, RD. :|
|Congenital polycystic kidney disease in lambs. N Z Vet J 53:307-14, 2005. Pubmed reference: 16220122. DOI: 10.1080/00480169.2005.36565.|
- Created by Frank Nicholas on 15 Mar 2019
- Changed by Frank Nicholas on 15 Mar 2019
- Changed by Frank Nicholas on 10 Mar 2020