OMIA 002316-9685 : Cardiomyopathy, hypertrophic, ALMS1-related in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ALMS1||Alstrom syndrome 1||Felis catus||A3||NC_058370.1 (89752534..89976063)||ALMS1||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|
|1292||Sphynx||Cardiomyopathy, hypertrophic||ALMS1||missense||Naturally occurring variant||Felis_catus_9.0||A3||g.92439157G>C||c.7384G>C||p.(G2462R)||cDNA and protein positions have been predicted using Ensemble VEP based on transcript ENSFCAT00000077013.1||2021||33639992|
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||Kittleson, M.D., Côté, E. :|
|The feline cardiomyopathies: 1. General concepts. J Feline Med Surg 23:1009-1027, 2021. Pubmed reference: 34693806. DOI: 10.1177/1098612X211021819.|
|Meurs, K.M., Williams, B.G., DeProspero, D., Friedenberg, S.G., Malarkey, D.E., Ezzell, J.A., Keene, B.W., Adin, D.B., DeFrancesco, T.C., Tou, S. :|
|A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet J Rare Dis 16:108, 2021. Pubmed reference: 33639992. DOI: 10.1186/s13023-021-01740-5.|
|2012||Chetboul, V., Petit, A., Gouni, V., Trehiou-Sechi, E., Misbach, C., Balouka, D., Carlos Sampedrano, C., Pouchelon, J.L., Tissier, R., Abitbol, M. :|
|Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: reference ranges, heart disease prevalence and genetic aspects. J Vet Cardiol 14:497-509, 2012. Pubmed reference: 23131204. DOI: 10.1016/j.jvc.2012.08.001.|
- Created by Imke Tammen2 on 05 Mar 2021
- Changed by Imke Tammen2 on 20 May 2022