Hereditary Elliptocytosis
Hereditary Elliptocytosis. Autosomal dominant. Observed in 2 of 266 breeds tested in the Sniff Atlas, with measured allele frequencies drawn from 242,664 dogs (Donner 2023). Because this is a dominant trait, a single copy places a dog at risk rather than making it a silent carrier; whether the phenotype appears still depends on penetrance, modifier genes, and environment.
Dominant trait. A single copy of this variant places a dog at risk; it does not make the dog a silent carrier. The breed frequencies below are therefore at-risk frequencies, and penetrance plus modifier genes determine whether the phenotype actually appears.
- OMIA identifier
- OMIA:001318-9615
- InheritanceInheritance patternWhat it isHow the condition is passed down: recessive (two copies needed), dominant (one copy), or more complex.For your dogRecessive means a single-copy carrier is usually healthy but can still pass it on.PreciselyThe documented mode of Mendelian transmission (autosomal recessive or dominant, X-linked, etc.), as listed for the variant in the Donner et al. 2023 carrier-screening catalogue.Donner et al. 2023 · documented
- Autosomal dominant
- Source dataset
- Sniff Atlas v1.0.2 / DOI
How it presents
Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as elliptocytosis 3 (MONDO:0054780).
Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (doi:10.25910/2AMR-PV70, CC-BY 4.0).
Published references
The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.
- Canine elliptocytosis due to a mutant beta-spectrin. · Vet Clin Pathol · 2009 · PMID 19228356
- Presumed hereditary elliptocytosis in a dog · Aust Vet J · 1999 · PMID 10590790
References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.
Set each parent's status for Hereditary Elliptocytosis and see the odds for their puppies. Single dominant variant, exact Mendelian math.
These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. One copy is enough, so a parent with the variant passes it to about half the litter whatever the mate. Use it to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
See what Hereditary Elliptocytosis looks like in your dog's breed.
Top 2 well-sampled breeds (n ≥ 50)
Maximum allele frequencyAllele frequencyWhat it isOf the gene copies tested in a breed, the share that carry the variant. Every dog carries two copies, so this is not the share of dogs.For your dogA dog with one copy of a recessive variant is usually healthy. It takes two copies to be at risk, and this figure does not say how many dogs carry one.PreciselyThe proportion of sampled alleles that are the variant allele, within a tested cohort. Not a carrier (genotype) frequency and not disease incidence.Sniff Atlas (Donner 2023) · measured per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervalsWilson 95% confidence intervalWhat it isThe range the true frequency is probably in. A wide range means we are less sure, usually because few dogs were tested.For your dogTrust tight ranges; treat wide ones as rough estimates.PreciselyA binomial-proportion confidence interval (Wilson score, 95%) that stays reliable at small sample sizes.Sniff Atlas methodology · statistical. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.
▸ Full table with Wilson 95% confidence intervals
| Breed | Allele frequency | n tested |
|---|---|---|
| Golden Retriever | <0.1% | 12,881 |
| German Shepherd | <0.1% | 15,648 |
264 additional breeds in the Donner 2023 cohort were tested but showed no at-risk genotypes.
Scope
This record carries the breed-level allele frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.2. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.
Predicted disease relevance at the per-dog level is UNPROVEN. The allele frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.
Citations
If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level allele frequencies) and the upstream sources:
- Sniff Atlas v1.0.2 for the per-breed allele frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.2. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
- OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:001318-9615.
- Donner et al. 2023 for the breed × variant allele-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.
Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.
Related
- Sniff Atlas v1.0.2, the source dataset for these frequencies.
- Browse breeds, per-breed Mendelian profiles, including this disease in context.
- OMIA entry OMIA:001318-9615, authoritative clinical reference.
- About OMIA, the catalogue this record comes from, and how Sniff uses it.