Trait
Hypothalamic hamartoma
The presence of a hamartoma of the hypothalamus.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test17 genes linked to Hypothalamic hamartoma
Changes in these genes cause rare conditions in which Hypothalamic hamartoma 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 |
|---|---|---|
| GLI3GLI family zinc finger 3 | Always | In 2 conditions |
| SMOsmoothened, frizzled class receptor | Always | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Often (30–79%) | In 2 conditions |
| MAN2C1mannosidase alpha class 2C member 1 | Often (30–79%) | In 1 condition |
| TIAM1TIAM Rac1 associated GEF 1 | Often (30–79%) | In 1 condition |
| FAM149B1family with sequence similarity 149 member B1 | Sometimes (5–29%) | In 1 condition |
| KIAA0753KIAA0753 | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Sometimes (5–29%) | In 2 conditions |
| PDE6Dphosphodiesterase 6D | Sometimes (5–29%) | In 1 condition |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| TMEM216transmembrane protein 216 | Sometimes (5–29%) | In 1 condition |
| TMEM231transmembrane protein 231 | Sometimes (5–29%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Sometimes (5–29%) | In 1 condition |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Sometimes (5–29%) | In 1 condition |
| SIX6SIX homeobox 6 | Not recorded | In 1 condition |
| SOX2SRY-box transcription factor 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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