OMIA:003023-9913 : Ataxia and dyslipidemia, LIPC-related in Bos taurus (taurine cattle) |
Categories: Nervous system phene , Homeostasis / metabolism phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 151670 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Species-specific symbol: ATX
Molecular basis: Weber et al. (2026) investigated an inherited neuromuscular disorder in Brown Swiss cattle. Use of whole genome sequencing resulted in the identification of a "rare homozygous missense variant in LIPC (chr10:51715800G>C; NM_001035410.1:c.924C>G; p.Phe308Leu; omia.variant:1842) ... and in-silico predictions classified this variant as deleterious. Population-level genotyping of over 20.000 BS cattle revealed a variant allele frequency of 17% with significant deviation from the Hardy–Weinberg equilibrium (p-value=1.14 × 10⁻20), suggesting possible lethality in homozygotes. "
Clinical features: Weber et al. (2026): Affected Brown Swiss animals "exhibited consistent neurological signs, including postural deficits and subconscious proprioceptive ataxia. Biochemical profiles revealed hypercholesterolemia, hypertriglyceridemia, and decreased HDL cholesterol, suggesting dyslipidemia."
Breed:
Brown Swiss (Cattle) (VBO_0000166).
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 |
|---|---|---|---|---|---|---|
| LIPC | lipase C, hepatic type | Bos taurus | 10 | NC_037337.1 (51859042..51696929) | LIPC | 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 | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1842 | Brown Swiss (Cattle) | Ataxia | LIPC | ATX | substitution | missense | Naturally occurring variant | Not currently evaluated | ARS-UCD1.3 | 10 | NC_037337.1:g.51715800G>C | NM_001035410.1:c.924C>G | NP_001030487.1:p.(F308L) | 2026 | 42007389 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
Clinical synopsis/links to phenotypes
| Variant | Phenotype(s) | References (Pubmed ID) |
|---|---|---|
| 1842 |
MP:0001393: ataxia
HP:0003233: Decreased HDL cholesterol concentration HP:0003124: Hypercholesterolemia HP:0002155: Hypertriglyceridemia HP:0002172: Postural instability |
42007389 |
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003023-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Weber, B.A., Zimmermann, A., Häfliger, I.M., Seefried, F.R., Meylan, M., Drögemüller, C., Jacinto, J. : |
| Novel LIPC-related recessive form of postural proprioceptive deficits in Brown Swiss cattle. Vet Anim Sci 32:100645, 2026. Pubmed reference: 42007389. DOI: 10.1016/j.vas.2026.100645. |
Edit History
- Created by Imke Tammen2 on 18 Oct 2025
- Changed by Imke Tammen2 on 18 Oct 2025
- Changed by Imke Tammen2 on 24 Apr 2026