OMIA 000161-9913 : Cardiomyopathy and woolly haircoat syndrome in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 607463 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

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 (53021845..53005623) PPP1R13L Homologene, Ensembl, NCBI gene

Variants

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
588 Poll Hereford 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)

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