Trait
Optic nerve aplasia
Congenital absence of the optic nerve.
Summary
- Also called
- Absent optic nerve, Aplastic optic nerve
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test7 genes linked to Optic nerve aplasia
Changes in these genes cause rare conditions in which Optic nerve aplasia 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 |
|---|---|---|
| OTX2orthodenticle homeobox 2 | Always | In 1 condition |
| SIX6SIX homeobox 6 | Always | In 1 condition |
| SOX2SRY-box transcription factor 2 | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Often (30–79%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| PAX6paired box 6 | Sometimes (5–29%) | In 2 conditions |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | 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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