OMIA 002374-9913 : Charcot Marie Tooth disease, FGD4-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FGD4||FYVE, RhoGEF and PH domain containing 4||Bos taurus||5||NC_037332.1 (77463045..77219790)||FGD4||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|
|1326||Holstein Friesian Jersey||Charcot Marie Tooth disease||FGD4||splicing||Naturally occurring variant||ARS-UCD1.2||5||g.77262490C>T||c.1671+1G>A||Splice donor mutation based on XM_005206883.3||2021||34045765|
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.
|2022||Dittmer, K.E., Neeley, C., Perrott, M.R., Reynolds, E., Garrick, D.J., Littlejohn, M.D. :|
|Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in <i>FGD4</i>. Vet Pathol 59:442-450, 2022. Pubmed reference: 35300540. DOI: 10.1177/03009858221083041.|
|2021||Reynolds, E.G.M., Neeley, C., Lopdell, T.J., Keehan, M., Dittmer, K., Harland, C.S., Couldrey, C., Johnson, T.J.J., Tiplady, K., Worth, G., Walker, M., Davis, S.R., Sherlock, R.G., Carnie, K., Harris, B.L., Charlier, C., Georges, M., Spelman, R.J., Garrick, D.J., Littlejohn, M.D. :|
|Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes. Nat Genet 53:949-54, 2021. Pubmed reference: 34045765. DOI: 10.1038/s41588-021-00872-5.|
- Created by Imke Tammen2 on 09 Aug 2021
- Changed by Imke Tammen2 on 09 Aug 2021