OMIA 001427-9685 : Gangliosidosis, GM2, GM2A deficiency in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GM2A||GM2 ganglioside activator||Felis catus||A1||NC_058368.1 (195495804..195481259)||GM2A||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|
|496||Gangliosidosis, GM2, GM2A deficiency||GM2A||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||A1||g.198114664_198114667del||c.516_519del||p.(V173Sfs*17)||XM_003981379.5; XP_003981428.2; published as c.516_519delGGTC||2005||16200419||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|2005||Martin, DR., Cox, NR., Morrison, NE., Kennamer, DM., Peck, SL., Dodson, AN., Gentry, AS., Griffin, B., Rolsma, MD., Baker, HJ. :|
|Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. Acta Neuropathol (Berl) 110:443-50, 2005. Pubmed reference: 16200419. DOI: 10.1007/s00401-005-1040-6.|
- Created by Frank Nicholas on 26 Nov 2007
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 26 Nov 2012
- Changed by Tosso Leeb on 29 May 2013