OMIA 002289-9615 : Progressive retinal atrophy, IMPG2-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|IMPG2||interphotoreceptor matrix proteoglycan 2||Canis lupus familiaris||33||NC_051837.1 (7924899..7842019)||IMPG2||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|
|1253||Lhasa Apso||Progressive retinal atrophy 4 (PRA4)||IMPG2||insertion, gross (>20)||Naturally occurring variant||CanFam3.1||33||" LINE-1 insertion was identified within the critical region in this PRA-affected LA, situated within 200 bp upstream of the interphotoreceptor matrix proteoglycan 2 (IMPG2) gene within the following coordinates: CANFA33: 7,785,475-7,785,491" (Hitti-Malin et al., 2020)||2020||32894063|
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||Hitti-Malin, R.J., Burmeister, L.M., Ricketts, S.L., Lewis, T.W., Pettitt, L., Boursnell, M., Schofield, E.C., Sargan, D., Mellersh, C.S. :|
|A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs. BMC Genet 21:100, 2020. Pubmed reference: 32894063. DOI: 10.1186/s12863-020-00911-w.|
|2012||Miyadera, K., Acland, G.M., Aguirre, G.D. :|
|Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.|
- Created by Frank Nicholas on 26 Oct 2020
- Changed by Frank Nicholas on 26 Oct 2020