Trait
Holoprosencephaly
Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
Summary
- Also called
- Single brain ventricle
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Read the genes linked to Holoprosencephaly, and the rest of your genome, with one test.
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Get my Genome Test59 genes linked to Holoprosencephaly
Changes in these genes cause rare conditions in which Holoprosencephaly 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 |
|---|---|---|
| TXNDC15thioredoxin domain containing 15 | Always | In 1 condition |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Always | In 1 condition |
| GPKOWG-patch domain and KOW motifs | Very often (80–99%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Very often (80–99%) | In 2 conditions |
| PRRX1paired related homeobox 1 | Very often (80–99%) | In 2 conditions |
| CILK1ciliogenesis associated kinase 1 | Often (30–79%) | In 1 condition |
| CNOT1CCR4-NOT transcription complex subunit 1 | Often (30–79%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Often (30–79%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 2 conditions |
| SHHsonic hedgehog signaling molecule | Often (30–79%) | In 4 conditions |
| VANGL2VANGL planar cell polarity protein 2 | Often (30–79%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 2 conditions |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 2 conditions |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Sometimes (5–29%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Sometimes (5–29%) | In 2 conditions |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| FKRPfukutin related protein | Sometimes (5–29%) | In 1 condition |
| FKTNfukutin | Sometimes (5–29%) | In 2 conditions |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 1 condition |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 3 conditions |
| GLI3GLI family zinc finger 3 | Sometimes (5–29%) | In 2 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 1 condition |
| HOXA2homeobox A2 | Sometimes (5–29%) | In 1 condition |
| L1CAML1 cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sometimes (5–29%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
Show 19 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| POMT2protein O-mannosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Sometimes (5–29%) | In 1 condition |
| RB1RB transcriptional corepressor 1 | Sometimes (5–29%) | In 1 condition |
| SALL1spalt like transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SEMA3Esemaphorin 3E | Sometimes (5–29%) | In 1 condition |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 2 conditions |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| WDR81WD repeat domain 81 | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 2 conditions |
| FOXA2forkhead box A2 | Rarely (1–4%) | In 1 condition |
| HESX1HESX homeobox 1 | Rarely (1–4%) | In 1 condition |
| LHX4LIM homeobox 4 | Rarely (1–4%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Rarely (1–4%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Rarely (1–4%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | 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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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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