Trait
Tibial torsion
Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test23 genes linked to Tibial torsion
Changes in these genes cause rare conditions in which Tibial torsion 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 |
|---|---|---|
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| PRR12proline rich 12 | Often (30–79%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Often (30–79%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Often (30–79%) | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| DDX6DEAD-box helicase 6 | Sometimes (5–29%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 1 condition |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sometimes (5–29%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 2 conditions |
| PCDH19protocadherin 19 | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 2 conditions |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sometimes (5–29%) | In 2 conditions |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 2 conditions |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Sometimes (5–29%) | In 2 conditions |
| ADGRV1adhesion G protein-coupled receptor V1 | Rarely (1–4%) | In 1 condition |
| CPA6carboxypeptidase A6 | Rarely (1–4%) | In 1 condition |
| FGF13fibroblast growth factor 13 | Rarely (1–4%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Rarely (1–4%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Rarely (1–4%) | In 1 condition |
| PRRT2proline rich transmembrane protein 2 | Rarely (1–4%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Rarely (1–4%) | In 1 condition |
| STX1Bsyntaxin 1B | Rarely (1–4%) | 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.
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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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