Trait
Elliptocytosis
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
Summary
- Also called
- Ovalocytes, Ovalocytosis
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test11 genes linked to Elliptocytosis
Changes in these genes cause rare conditions in which Elliptocytosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Always | In 2 conditions |
| SPTBspectrin beta, erythrocytic | Always | In 2 conditions |
| ACSL4acyl-CoA synthetase long chain family member 4 | Often (30–79%) | In 1 condition |
| EPB41erythrocyte membrane protein band 4.1 | Often (30–79%) | In 2 conditions |
| GYPCglycophorin C (Gerbich blood group) | Often (30–79%) | In 1 condition |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Often (30–79%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Often (30–79%) | In 2 conditions |
| SPTA1spectrin alpha, erythrocytic 1 | Often (30–79%) | In 3 conditions |
| TRNT1tRNA nucleotidyl transferase 1 | Often (30–79%) | In 1 condition |
| CA2carbonic anhydrase 2 | Sometimes (5–29%) | In 1 condition |
| GATA1GATA binding protein 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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