Trait
Pierre-Robin sequence
Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
Summary
- Also called
- Pierre Robin sequence, Pierre-robin anomaly, Pierre-robin deformity, Pierre-robin malformation, Robin sequence
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
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Get my Genome Test38 genes linked to Pierre-Robin sequence
Changes in these genes cause rare conditions in which Pierre-Robin sequence 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 |
|---|---|---|
| KIF15kinesin family member 15 | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| SATB2SATB homeobox 2 | Always | In 2 conditions |
| TGDSTDP-glucose 4,6-dehydratase | Always | In 1 condition |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Always | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Very often (80–99%) | In 2 conditions |
| MYMXmyomixer, myoblast fusion factor | Very often (80–99%) | In 1 condition |
| RBM10RNA binding motif protein 10 | Very often (80–99%) | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Very often (80–99%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 2 conditions |
| COL11A1collagen type XI alpha 1 chain | Often (30–79%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Often (30–79%) | In 4 conditions |
| EIF4A3eukaryotic translation initiation factor 4A3 | Often (30–79%) | In 2 conditions |
| FLNAfilamin A | Often (30–79%) | In 1 condition |
| KCNK4potassium two pore domain channel subfamily K member 4 | Often (30–79%) | In 1 condition |
| PGM1phosphoglucomutase 1 | Often (30–79%) | In 1 condition |
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| ANKRD17ankyrin repeat domain 17 | Sometimes (5–29%) | In 1 condition |
| BMP2bone morphogenetic protein 2 | Sometimes (5–29%) | In 1 condition |
| CAPRIN1cell cycle associated protein 1 | Sometimes (5–29%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Sometimes (5–29%) | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Sometimes (5–29%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sometimes (5–29%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sometimes (5–29%) | In 1 condition |
| RPL17ribosomal protein L17 | Sometimes (5–29%) | In 1 condition |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Sometimes (5–29%) | In 1 condition |
| YY1YY1 transcription factor | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| SLC10A7solute carrier family 10 member 7 | Rarely (1–4%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Not recorded | In 2 conditions |
| DGCR2DiGeorge syndrome critical region gene 2 | Not recorded | In 1 condition |
| DGCR6DiGeorge syndrome critical region gene 6 | Not recorded | In 1 condition |
| DGCR8DGCR8 microprocessor complex subunit | Not recorded | In 1 condition |
| ESS2ess-2 spliceosome associated protein | Not recorded | In 1 condition |
| TBX1T-box transcription factor 1 | 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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