Trait
Absent shankbone
Clinical name: Absent tibia
Absence of the tibia.
Summary
- Also called
- Absent shinbone, Aplasia of the tibia
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test8 genes linked to Absent shankbone
Changes in these genes cause rare conditions in which Absent 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 |
|---|---|---|
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| GLI3GLI family zinc finger 3 | Very often (80–99%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 1 condition |
| LMBR1limb development membrane protein 1 | Often (30–79%) | In 2 conditions |
| PITX1paired like homeodomain 1 | Often (30–79%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | 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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