OMIA 002366-9685 : Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-related in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GDF7||growth differentiation factor 7||Felis catus||A3||NC_018725.2 (124737756..124732610)||GDF7||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|
|1221||Toyger||Holoprosencephaly||GDF7||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||A3||g.127002233_127002239del||c.221_227del||p.(R74Pfs*17)||XM_023252074.1; XP_023107842.1; published as "a 7 bp deletion in the coding region of GDF7 (c.221_227delGCCGCGC [p.Arg74Profs*17]) at the position A3:127002233 (ENSFCAT00000063603)" (Yu et al., 2020)||2020||32575532|
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||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.|
|Yu, Y., Creighton, E.K., Buckley, R.M., Lyons, L.A. :|
|A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats. Genes (Basel) 11:, 2020. Pubmed reference: 32575532. DOI: 10.3390/genes11060672.|
|2016||Keating, M.K., Sturges, B.K., Sisó, S., Wisner, E.R., Creighton, E.K., Lyons, L.A. :|
|Characterization of an inherited neurologic syndrome in Toyger cats with forebrain commissural malformations, ventriculomegaly and interhemispheric cysts. J Vet Intern Med 30:617-26, 2016. Pubmed reference: 26846816. DOI: 10.1111/jvim.13836.|
- Created by Imke Tammen2 on 11 Jul 2021
- Changed by Imke Tammen2 on 11 Jul 2021