OMIA 001443-9685 : Neuronal ceroid lipofuscinosis, 6 in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLN6||ceroid-lipofuscinosis, neuronal 6, late infantile, variant||Felis catus||B3||NC_058373.1 (37173741..37207743)||CLN6||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|
|1213||Domestic medium-haired||Neuronal ceroid lipofuscinosis, 6||CLN6||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||B3||g.39334330G>A||c.668G>A||p.(W223*)||ENSFCAT00000025909:c.668G>A; XM_003987007.5:c.668G>A (Katz et al. (2020)||2020||32518081|
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||Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :|
|A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7.|
|2020||Katz, M.L., Buckley, R.M., Biegen, V., O'Brien, D.P., Johnson, G.C., Warren, W.C., Lyons, L.A. :|
|Neuronal ceroid lipofuscinosis in a domestic cat associated with a DNA sequence variant that creates a premature stop codon in CLN6. G3 (Bethesda) 10:2741-51, 2020. Pubmed reference: 32518081. DOI: 10.1534/g3.120.401407.|
|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 11 Jun 2020
- Changed by Frank Nicholas on 11 Jun 2020
- Changed by Imke Tammen2 on 17 Jun 2021
- Changed by Imke Tammen2 on 07 Sep 2021