Trait
Bowed shankbone
Clinical name: Tibial bowing
A bending or abnormal curvature of the tibia.
Summary
- Also called
- Bowed shinbone, Bowed tibia, Bowing of the tibia
Reference genomeGRCh38hg38
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Get my Genome Test42 genes linked to Bowed shankbone
Changes in these genes cause rare conditions in which Bowed shankbone 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 |
|---|---|---|
| COL2A1collagen type II alpha 1 chain | Always | In 2 conditions |
| FLNAfilamin A | Always | In 2 conditions |
| PHEXphosphate regulating endopeptidase X-linked | Always | In 1 condition |
| SERPINH1serpin family H member 1 | Always | In 1 condition |
| SLC13A1solute carrier family 13 member 1 | Always | In 1 condition |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Very often (80–99%) | In 2 conditions |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Very often (80–99%) | In 2 conditions |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 3 conditions |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 2 conditions |
| CILK1ciliogenesis associated kinase 1 | Often (30–79%) | In 1 condition |
| DMP1dentin matrix acidic phosphoprotein 1 | Often (30–79%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Often (30–79%) | In 2 conditions |
| MMP13matrix metallopeptidase 13 | Often (30–79%) | In 2 conditions |
| SMOC1SPARC related modular calcium binding 1 | Often (30–79%) | In 2 conditions |
| CLTCL1clathrin heavy chain like 1 | Sometimes (5–29%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DYMdymeclin | Sometimes (5–29%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 1 condition |
| FN1fibronectin 1 | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 2 conditions |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| CLCN5Cl-/H+ antiporter 5 | Not recorded | In 2 conditions |
| COL1A1collagen type I alpha 1 chain | Not recorded | In 3 conditions |
| COL1A2collagen type I alpha 2 chain | Not recorded | In 2 conditions |
| FLNBfilamin B | Not recorded | In 2 conditions |
| GORABgolgin, RAB6 interacting | Not recorded | In 1 condition |
| LIFRLIF receptor subunit alpha | Not recorded | In 1 condition |
| P3H1prolyl 3-hydroxylase 1 | Not recorded | In 1 condition |
| PCNTpericentrin | Not recorded | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Not recorded | In 1 condition |
Show 2 more genes
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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