OMIA 001962-9685 : Neuronal ceroid lipofuscinosis, 7 in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MFSD8||major facilitator superfamily domain containing 8||Felis catus||B1||NC_058371.1 (96530858..96681414)||MFSD8||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|
|1148||Domestic Shorthair||Neuronal ceroid lipofuscinosis, 7||MFSD8||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B1||g.98935076del||c.780del||p.(Q262Kfs*33)||XM_019828986.2; XP_019684545.1; published as c.780delT||2020||31860737|
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||Guevar, J., Hug, P., Giebels, F., Durand, A., Jagannathan, V., Leeb, T. :|
|A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis. J Vet Intern Med 34:289-293, 2020. Pubmed reference: 31860737. DOI: 10.1111/jvim.15663.|
|Lyons, L.A. :|
|Precision medicine in cats-The right biomedical model may not be the mouse! PLoS Genet 16:e1009177, 2020. Pubmed reference: 33290388. DOI: 10.1371/journal.pgen.1009177.|
- Created by Frank Nicholas on 28 Jan 2020
- Changed by Frank Nicholas on 28 Jan 2020