OMIA:003013-9913 : Dwarfism, primordial disproportionate, PRDM10-related in Bos taurus (taurine cattle) |
Categories: Skeleton phene (incl. short stature & teeth) , Growth / size / body region phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 618319 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Jacinto et al (2025) investigated two half-sib Angus calves with chondrodysplasia leading to primordial disproportionate dwarfism in a whole genome sequencing approach: "Assuming a dominant MOI [mode of inheritance], a heterozygous pathogenic missense variant was found in exon 6 of PRDM10 leading to an amino acid exchange in PRDM10 at position 289, located in the PR-SET domain (Chr29:g.36138136G > A; c.866C > T; p.Pro289Leu) [omia.variant:1840]. We speculate that the candidate variant was inherited from a germinal mosaic sire."
Breed:
Angus (Cattle) (VBO_0000104).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PRDM10 | PR/SET domain 10 | Bos taurus | 29 | NC_037356.1 (36199759..36100991) | PRDM10 | 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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1840 | Angus (Cattle) | Dwarfism, primordial disproportionate | PRDM10 | substitution | missense | Naturally occurring variant | Not currently evaluated | ARS-UCD1.3 | 29 | NC_037356.1:g.36138136G>A | NM_001191168.1:c.866C>T | NP_001178097.1:p.(P289L) | 2025 | 40999323 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:003013-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Jacinto, J., Letko, A., Gentile, A., Otter, A., Floyd, T., Collins, R., Richey, M., Carty, H., Scholes, S., Jones, A., Fuller, H., Häfliger, I.M., Strugnell, B., Studer, E., Benazzi, C., Bolcato, M., Starič, J., Diana, A., Weber, J., Freick, M., Lühken, G., Tammen, I., Kraft, D.C.E., Lindgren, C.M., Sickinger, M., Soto, S., O'Rourke, B.A., Agerholm, J.S., Drögemüller, C. : |
| Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. Genet Sel Evol 57:51, 2025. Pubmed reference: 40999323. DOI: 10.1186/s12711-025-01002-z. |
Edit History
- Created by Imke Tammen2 on 09 Oct 2025
- Changed by Imke Tammen2 on 10 Oct 2025