Trait
Atlantoaxial instability
Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
Summary
- Body system
- Abnormality of the musculoskeletal system
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 Atlantoaxial instability
Changes in these genes cause rare conditions in which Atlantoaxial instability 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 |
|---|---|---|
| DYMdymeclin | Always | In 2 conditions |
| ARSLarylsulfatase L | Sometimes (5–29%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Sometimes (5–29%) | In 1 condition |
| FKBP14FKBP prolyl isomerase 14 | Rarely (1–4%) | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | 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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