Trait
Irregular pupil
Clinical name: Abnormal pupil shape
A deviation from the normal circular shape of the pupil
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test6 genes linked to Irregular pupil
Changes in these genes cause rare conditions in which Irregular pupil 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 |
|---|---|---|
| COL25A1collagen type XXV alpha 1 chain | Often (30–79%) | In 1 condition |
| KIF21Akinesin family member 21A | Often (30–79%) | In 1 condition |
| PHOX2Apaired like homeobox 2A | Often (30–79%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Often (30–79%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Often (30–79%) | In 1 condition |
| TUBB3tubulin beta 3 class III | Often (30–79%) | 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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