Trait
Punctate keratitis
A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test6 genes linked to Punctate keratitis
Changes in these genes cause rare conditions in which Punctate keratitis 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 |
|---|---|---|
| GJB2gap junction protein beta 2 | Often (30–79%) | In 2 conditions |
| GJB6gap junction protein beta 6 | Often (30–79%) | In 1 condition |
| NLRP1NLR family pyrin domain containing 1 | Often (30–79%) | In 1 condition |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Sometimes (5–29%) | In 1 condition |
| EPCAMepithelial cell adhesion molecule | Rarely (1–4%) | In 1 condition |
| PLECplectin | 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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