Trait
Vertebral segmentation defect
An abnormality related to a defect of vertebral separation during development.
Summary
- Also called
- Abnormal spinal segmentation
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test56 genes linked to Vertebral segmentation defect
Changes in these genes cause rare conditions in which Vertebral segmentation defect 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 |
|---|---|---|
| HES7hes family bHLH transcription factor 7 | Always | In 2 conditions |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Always | In 3 conditions |
| KYNUkynureninase | Always | In 1 condition |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 1 condition |
| DLL3delta like canonical Notch ligand 3 | Very often (80–99%) | In 2 conditions |
| GPC3glypican 3 | Very often (80–99%) | In 2 conditions |
| GPC4glypican 4 | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| MESP2mesoderm posterior bHLH transcription factor 2 | Very often (80–99%) | In 3 conditions |
| NRASNRAS proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| NXNnucleoredoxin | Very often (80–99%) | In 1 condition |
| RIPPLY2ripply transcriptional repressor 2 | Very often (80–99%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Very often (80–99%) | In 1 condition |
| TBX6T-box transcription factor 6 | Very often (80–99%) | In 2 conditions |
| CHRNGcholinergic receptor nicotinic gamma subunit | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Often (30–79%) | In 1 condition |
| HNF1BHNF1 homeobox B | Often (30–79%) | In 1 condition |
| HOXD13homeobox D13 | Often (30–79%) | In 1 condition |
| MYH3myosin heavy chain 3 | Often (30–79%) | In 2 conditions |
| NALCNsodium leak channel, non-selective | Often (30–79%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Often (30–79%) | In 1 condition |
| TNNI2troponin I2, fast skeletal type | Often (30–79%) | In 1 condition |
| TNNT3troponin T3, fast skeletal type | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 1 condition |
| WNT4Wnt family member 4 | Often (30–79%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CDC45cell division cycle 45 | Sometimes (5–29%) | In 1 condition |
| CHRM3cholinergic receptor muscarinic 3 | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FLNBfilamin B | Sometimes (5–29%) | In 2 conditions |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
Show 16 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GRIP1glutamate receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Rarely (1–4%) | In 1 condition |
| BMPERBMP binding endothelial regulator | Not recorded | In 1 condition |
| NADSYN1NAD synthetase 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.
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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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