Trait
Cone-shaped end part of bone
Clinical name: Cone-shaped epiphysis
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Summary
- Also called
- Cone-shaped epiphyses, Coned epiphyses
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test66 genes linked to Cone-shaped end part of bone
Changes in these genes cause rare conditions in which Cone-shaped end part of bone 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 |
|---|---|---|
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Always | In 2 conditions |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| PDE4Dphosphodiesterase 4D | Always | In 3 conditions |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Always | In 1 condition |
| IHHIndian hedgehog signaling molecule | Very often (80–99%) | In 3 conditions |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Very often (80–99%) | In 1 condition |
| RSPRY1ring finger and SPRY domain containing 1 | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Very often (80–99%) | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Very often (80–99%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Often (30–79%) | In 1 condition |
| ATRATR checkpoint kinase | Often (30–79%) | In 1 condition |
| ATRIPATR interacting protein | Often (30–79%) | In 1 condition |
| BMPR1Bbone morphogenetic protein receptor type 1B | Often (30–79%) | In 2 conditions |
| CENPEcentromere protein E | Often (30–79%) | In 1 condition |
| CEP120centrosomal protein 120 | Often (30–79%) | In 1 condition |
| CEP152centrosomal protein 152 | Often (30–79%) | In 1 condition |
| CEP295centrosomal protein 295 | Often (30–79%) | In 1 condition |
| CEP63centrosomal protein 63 | Often (30–79%) | In 1 condition |
| CPAPcentrosome assembly and centriole elongation protein | Often (30–79%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | 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 |
| FGF9fibroblast growth factor 9 | Often (30–79%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Often (30–79%) | In 1 condition |
| GDF5growth differentiation factor 5 | Often (30–79%) | In 3 conditions |
| GDF6growth differentiation factor 6 | Often (30–79%) | In 1 condition |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 1 condition |
| IFT80intraflagellar transport 80 | Often (30–79%) | In 1 condition |
| KIAA0753KIAA0753 | Often (30–79%) | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Often (30–79%) | In 2 conditions |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Often (30–79%) | In 1 condition |
| NINninein | Often (30–79%) | In 1 condition |
| NOGnoggin | Often (30–79%) | In 1 condition |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Often (30–79%) | In 2 conditions |
| NUP85nucleoporin 85 | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 1 condition |
Show 26 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PCNTpericentrin | Often (30–79%) | In 2 conditions |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Often (30–79%) | In 2 conditions |
| PLK4polo like kinase 4 | Often (30–79%) | In 1 condition |
| RBBP8RB binding protein 8, endonuclease | Often (30–79%) | In 1 condition |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| TRAIPTRAF interacting protein | Often (30–79%) | In 1 condition |
| TTC21Btetratricopeptide repeat domain 21B | Often (30–79%) | In 1 condition |
| WDR19WD repeat domain 19 | Often (30–79%) | In 2 conditions |
| CDC42BPBCDC42 binding protein kinase beta | Sometimes (5–29%) | In 1 condition |
| CEP164centrosomal protein 164 | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| COMPcartilage oligomeric matrix protein | Sometimes (5–29%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| GPX4glutathione peroxidase 4 | Sometimes (5–29%) | In 1 condition |
| IFT54intraflagellar transport 54 | Sometimes (5–29%) | In 1 condition |
| INVSinversin | Sometimes (5–29%) | In 1 condition |
| IQCB1IQ motif containing B1 | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| NPHP3nephrocystin 3 | Sometimes (5–29%) | In 1 condition |
| NPHP4nephrocystin 4 | Sometimes (5–29%) | In 1 condition |
| PDE3Aphosphodiesterase 3A | Sometimes (5–29%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Not recorded | In 2 conditions |
| POC1APOC1 centriolar protein A | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 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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