Trait
Absent kneecap
Clinical name: Patellar aplasia
Absence of the patella.
Summary
- Also called
- Absent patella, Absent patellae, Absent patellas, Aplastic patellae
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Absent kneecap, and the rest of your genome, with one test.
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Get my Genome Test23 genes linked to Absent kneecap
Changes in these genes cause rare conditions in which Absent kneecap 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 |
|---|---|---|
| CDC6cell division cycle 6 | Always | In 2 conditions |
| CDT1chromatin licensing and DNA replication factor 1 | Always | In 2 conditions |
| DONSONDNA replication fork stabilization factor DONSON | Always | In 2 conditions |
| GMNNgeminin DNA replication inhibitor | Always | In 2 conditions |
| ORC1origin recognition complex subunit 1 | Always | In 2 conditions |
| KAT6Blysine acetyltransferase 6B | Very often (80–99%) | In 2 conditions |
| LMBR1limb development membrane protein 1 | Very often (80–99%) | In 2 conditions |
| SHHsonic hedgehog signaling molecule | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 1 condition |
| CDC45cell division cycle 45 | Often (30–79%) | In 1 condition |
| GINS3GINS complex subunit 3 | Often (30–79%) | In 1 condition |
| ORC4origin recognition complex subunit 4 | Often (30–79%) | In 2 conditions |
| ORC6origin recognition complex subunit 6 | Often (30–79%) | In 2 conditions |
| RBM8ARNA binding motif protein 8A | Often (30–79%) | In 1 condition |
| WNT7AWnt family member 7A | Often (30–79%) | In 1 condition |
| BHLHA9basic helix-loop-helix family member a9 | Sometimes (5–29%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Sometimes (5–29%) | In 3 conditions |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 2 conditions |
| STXBP1syntaxin binding protein 1 | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Rarely (1–4%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Not recorded | In 1 condition |
| TBX4T-box transcription factor 4 | 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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