Trait
Abnormality of the palate
Clinical name: Abnormal palate morphology
Any abnormality of the palate, i.e., of roof of the mouth.
Summary
- Also called
- Abnormality of the roof of the mouth, Palatal anomaly, Palate abnormality
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test48 genes linked to Abnormality of the palate
Changes in these genes cause rare conditions in which Abnormality of the palate 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 |
|---|---|---|
| ATP7AATPase copper transporting alpha | Very often (80–99%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Very often (80–99%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Very often (80–99%) | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Very often (80–99%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Very often (80–99%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Very often (80–99%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Very often (80–99%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Very often (80–99%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Very often (80–99%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 1 condition |
| RNU12RNA, U12 small nuclear | Very often (80–99%) | In 1 condition |
| TCF4transcription factor 4 | Very often (80–99%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Very often (80–99%) | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Very often (80–99%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Often (30–79%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Often (30–79%) | In 1 condition |
| KDM1Alysine demethylase 1A | Often (30–79%) | In 1 condition |
| NIPA1NIPA magnesium transporter 1 | Often (30–79%) | In 1 condition |
| NIPA2NIPA magnesium transporter 2 | Often (30–79%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Often (30–79%) | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Often (30–79%) | In 1 condition |
| TBX22T-box transcription factor 22 | Often (30–79%) | In 1 condition |
| TRIM33tripartite motif containing 33 | Often (30–79%) | In 1 condition |
| TUBG1tubulin gamma 1 | Often (30–79%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sometimes (5–29%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Sometimes (5–29%) | In 1 condition |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
Show 8 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| POLR1ARNA polymerase I subunit A | Sometimes (5–29%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Sometimes (5–29%) | In 1 condition |
| TXNL4Athioredoxin like 4A | 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.
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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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