OMIA 000837-9685 : Vitamin D-deficiency rickets, type IA in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CYP27B1||cytochrome P450, family 27, subfamily B, polypeptide 1||Felis catus||B4||NC_058374.1 (84037172..84031492)||CYP27B1||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|
|502||Vitamin D-deficiency rickets, type I||CYP27B1||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B4||g.86180281del||c.731del||p.(R244Pfs*32)||XM_003988966.3; XP_003989015.1; published as c.731delG||2009||19138382||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|315||Vitamin D-deficiency rickets, type I||CYP27B1||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||B4||g.86180375C>A||c.637G>T||p.(E213*)||XM_003988966.3; XP_003989015.1;||2012||22553308||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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||Clarke, K.E., Hurst, E.A., Mellanby, R.J. :|
|Vitamin D metabolism and disorders in dogs and cats. J Small Anim Pract 62:935-947, 2021. Pubmed reference: 34323302. DOI: 10.1111/jsap.13401.|
|2012||Grahn, R.A., Ellis, M.R., Grahn, J.C., Lyons, L.A. :|
|A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA. J Feline Med Surg 14:587-90, 2012. Pubmed reference: 22553308. DOI: 10.1177/1098612X12446637.|
|2011||MacKenzie, J.M., Crawford, J., Ghantous, S. :|
|Successful therapy of vitamin D-dependant rickets in a kitten. J Am Anim Hosp Assoc 47:290-3, 2011. Pubmed reference: 21673332. DOI: 10.5326/JAAHA-MS-5610.|
|2009||Geisen, V., Weber, K., Hartmann, K. :|
|Vitamin D-dependent hereditary rickets type I in a cat. J Vet Intern Med 23:196-9, 2009. Pubmed reference: 19138382. DOI: 10.1111/j.1939-1676.2008.00220.x.|
- Created by Frank Nicholas on 20 Jul 2011
- Changed by Frank Nicholas on 07 Oct 2011
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- Changed by Frank Nicholas on 24 Nov 2012
- Changed by Frank Nicholas on 07 Dec 2012