OMIA:000161-9913 : Cardiomyopathy and woolly haircoat syndrome in Bos taurus (taurine cattle) |
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607463 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2009
Breed:
Polled Hereford (Cattle) (VBO_0000341).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PPP1R13L | protein phosphatase 1 regulatory subunit 13 like | Bos taurus | 18 | NC_037345.1 (53022682..53005623) | PPP1R13L | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 588 | Polled Hereford (Cattle) | Cardiomyopathy and woolly haircoat syndrome | PPP1R13L | duplication | Naturally occurring variant | ARS-UCD1.2 | 18 | g.53013747_53013753dup | c.956-962dupACAGGCG | p.(G335Efs*36) | 2009 | 19016676 | Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000161-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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 | Konovalova, E., Romanenkova, O., Kostyunina, O., Gladyr, E. : |
| The molecular bases study of the inherited diseases for the health maintenance of the beef cattle. Genes (Basel) 12:678, 2021. Pubmed reference: 33946496. DOI: 10.3390/genes12050678. | |
| 2009 | Simpson, MA., Cook, RW., Solanki, P., Patton, MA., Dennis, JA., Crosby, AH. : |
| A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. Anim Genet 40:42-6, 2009. Pubmed reference: 19016676. DOI: 10.1111/j.1365-2052.2008.01796.x. | |
| 1991 | Storie, G.J., Gibson, J.A., Taylor, J.D. : |
| Cardiomyopathy and Woolly Haircoat Syndrome of Hereford Cattle Australian Veterinary Journal 68:119, 1991. Pubmed reference: 2043089. | |
| 1988 | Whittington, RJ., Cook, RW. : |
| Cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle: electrocardiographic findings in affected and unaffected calves. Aust Vet J 65:341-4, 1988. Pubmed reference: 3214367. | |
| 1985 | Morrow, C. J., Mcorist, S. : |
| Cardiomyopathy associated with a curly hair coat in Poll Hereford calves in Australia Australian Veterinary Journal 117:312-313, 1985. |
Edit History
- Created by Frank Nicholas on 30 Apr 2009
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Imke Tammen2 on 18 Jun 2024