Trait
Retinal hamartoma
A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test5 genes linked to Retinal hamartoma
Changes in these genes cause rare conditions in which Retinal hamartoma 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 |
|---|---|---|
| IFNGinterferon gamma | Often (30–79%) | In 2 conditions |
| TSC1TSC complex subunit 1 | Often (30–79%) | In 2 conditions |
| TSC2TSC complex subunit 2 | Often (30–79%) | In 3 conditions |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sometimes (5–29%) | In 2 conditions |
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.
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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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