Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Facial grimacing, and the rest of your genome, with one test.
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Get my Genome Test13 genes linked to Facial grimacing
Changes in these genes cause rare conditions in which Facial grimacing 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 |
|---|---|---|
| PDE2Aphosphodiesterase 2A | Always | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Very often (80–99%) | In 2 conditions |
| EP300EP300 lysine acetyltransferase | Very often (80–99%) | In 2 conditions |
| GATAD2BGATA zinc finger domain containing 2B | Often (30–79%) | In 1 condition |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Often (30–79%) | In 1 condition |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Sometimes (5–29%) | In 1 condition |
| ATXN8ataxin 8 | Sometimes (5–29%) | In 1 condition |
| ATXN8OSATXN8 opposite strand lncRNA | Sometimes (5–29%) | In 1 condition |
| CPceruloplasmin | Sometimes (5–29%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Sometimes (5–29%) | In 1 condition |
| PLPBPpyridoxal phosphate binding protein | Sometimes (5–29%) | In 1 condition |
| PANK2pantothenate kinase 2 | Not recorded | In 1 condition |
| PNKDPNKD metallo-beta-lactamase domain containing | 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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