Trait
Cleft upper lip
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Summary
- Also called
- Cleft of upper lip, Harelip, Cheiloschisis of upper lip
- 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 Test103 genes linked to Cleft upper lip
Changes in these genes cause rare conditions in which Cleft upper lip 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 |
|---|---|---|
| ACTBactin beta | Always | In 2 conditions |
| RPGRIP1LRPGRIP1 like | Always | In 1 condition |
| TP63tumor protein p63 | Always | In 2 conditions |
| VAX1ventral anterior homeobox 1 | Always | In 1 condition |
| CDH1cadherin 1 | Very often (80–99%) | In 2 conditions |
| IRF6interferon regulatory factor 6 | Very often (80–99%) | In 4 conditions |
| NECTIN1nectin cell adhesion molecule 1 | Very often (80–99%) | In 2 conditions |
| PHF8PHD finger protein 8 | Very often (80–99%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Often (30–79%) | In 2 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 1 condition |
| COLEC10collectin subfamily member 10 | Often (30–79%) | In 1 condition |
| COLEC11collectin subfamily member 11 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 2 conditions |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 2 conditions |
| CYP26C1cytochrome P450 family 26 subfamily C member 1 | Often (30–79%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Often (30–79%) | In 2 conditions |
| DYNC2I1dynein 2 intermediate chain 1 | Often (30–79%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Often (30–79%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 3 conditions |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 2 conditions |
| FRAS1Fraser extracellular matrix complex subunit 1 | Often (30–79%) | In 2 conditions |
| GRHL3grainyhead like transcription factor 3 | Often (30–79%) | In 2 conditions |
| IFT80intraflagellar transport 80 | Often (30–79%) | In 1 condition |
| JUPjunction plakoglobin | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 2 conditions |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 2 conditions |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 2 conditions |
| RIPK4receptor interacting serine/threonine kinase 4 | Often (30–79%) | In 1 condition |
| RPL5ribosomal protein L5 | Often (30–79%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Often (30–79%) | In 2 conditions |
| TRAPPC9trafficking protein particle complex subunit 9 | Often (30–79%) | In 1 condition |
| WDR35WD repeat domain 35 | Often (30–79%) | In 1 condition |
| WNT3Wnt family member 3 | Often (30–79%) | In 1 condition |
| YAP1Yes1 associated transcriptional regulator | Often (30–79%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 2 conditions |
| DDX3XDEAD-box helicase 3 X-linked | Sometimes (5–29%) | In 1 condition |
Show 63 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sometimes (5–29%) | In 2 conditions |
| FOXC2forkhead box C2 | Sometimes (5–29%) | In 2 conditions |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 2 conditions |
| GLI3GLI family zinc finger 3 | Sometimes (5–29%) | In 1 condition |
| GPC3glypican 3 | Sometimes (5–29%) | In 1 condition |
| GPC4glypican 4 | Sometimes (5–29%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| PAX3paired box 3 | Sometimes (5–29%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sometimes (5–29%) | In 1 condition |
| POLR1BRNA polymerase I subunit B | Sometimes (5–29%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Sometimes (5–29%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Sometimes (5–29%) | In 1 condition |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| SEMA3Esemaphorin 3E | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Sometimes (5–29%) | In 1 condition |
| TCOF1treacle ribosome biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Sometimes (5–29%) | In 2 conditions |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Not recorded | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Not recorded | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Not recorded | In 1 condition |
| DHODHdihydroorotate dehydrogenase (quinone) | Not recorded | In 1 condition |
| EFNB1ephrin B1 | Not recorded | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Not recorded | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Not recorded | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Not recorded | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Not recorded | In 1 condition |
| FKRPfukutin related protein | Not recorded | In 1 condition |
| FKTNfukutin | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| GJA1gap junction protein alpha 1 | Not recorded | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Not recorded | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Not recorded | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MEIS2Meis homeobox 2 | Not recorded | In 1 condition |
| MEOX1mesenchyme homeobox 1 | Not recorded | In 1 condition |
| MSX1msh homeobox 1 | Not recorded | In 1 condition |
| MSX2msh homeobox 2 | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| NBNnibrin | Not recorded | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Not recorded | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Not recorded | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Not recorded | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Not recorded | In 1 condition |
| PORCNporcupine O-acyltransferase | Not recorded | In 1 condition |
| PROKR2prokineticin receptor 2 | Not recorded | In 1 condition |
| PTCH1patched 1 | Not recorded | In 1 condition |
| RPS19ribosomal protein S19 | Not recorded | In 1 condition |
| SF3B2splicing factor 3b subunit 2 | Not recorded | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Not recorded | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Not recorded | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Not recorded | In 1 condition |
| TXNL4Athioredoxin like 4A | Not recorded | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | 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.
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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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