OMIA 002547-9913 : Haplotype with homozygous deficiency HH25 in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611919 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Inheritance: Häfliger et al. (2022) reported a 75% deficiency of homozygotes for this haplotype in Swiss Holsteins.

Markers: Based on strong evidence from Swiss Holsteins, Häfliger et al. (2022) reported RIOX1; c.396_425delGGC GCA GAC CCC GGC GGC ACG CTT GGT GGA as a likely causal variant for haplotype H25.

Breed: Swiss Holstein.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RIOX1 Bos taurus - no genomic information (-..-) RIOX1 Ensembl

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1442 Swiss Holstein Haplotype HH25 deficiency RIOX1 deletion, gross (>20) Naturally occurring variant ARS-UCD1.2 10 g.84938408_84938437del c.396_425del p.(A133_E142del) NM_001099702.1; NP_001093172.1; published as c.396_425delGGCGCAGACCCCGGCGGCACGCTTGGTGGA 2022 35361830

Reference


2022 Häfliger, I.M., Spengeler, M., Seefried, F.R., Drögemüller, C. :
Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle. Sci Rep 12:5435, 2022. Pubmed reference: 35361830. DOI: 10.1038/s41598-022-09403-6.

Edit History


  • Created by Frank Nicholas on 04 Apr 2022
  • Changed by Frank Nicholas on 04 Apr 2022