Trait
Absent ankle reflexes
Clinical name: Absent Achilles reflex
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Summary
Reference genomeGRCh38hg38
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Get my Genome Test55 genes linked to Absent ankle reflexes
Changes in these genes cause rare conditions in which Absent ankle reflexes 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 |
|---|---|---|
| ARHGAP19Rho GTPase activating protein 19 | Always | In 1 condition |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Always | In 1 condition |
| CTSAcathepsin A | Always | In 1 condition |
| HSPB3heat shock protein family B (small) member 3 | Always | In 1 condition |
| HSPB8heat shock protein family B (small) member 8 | Always | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Always | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| RAB7ARAB7A, member RAS oncogene family | Always | In 1 condition |
| REEP1receptor accessory protein 1 | Always | In 2 conditions |
| RTN2reticulon 2 | Always | In 1 condition |
| SIGMAR1sigma receptor chaperone 1 | Always | In 1 condition |
| SMN1survival of motor neuron 1, telomeric | Always | In 1 condition |
| SMN2survival of motor neuron 2, centromeric | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| VCPvalosin containing protein | Always | In 2 conditions |
| WARS1tryptophanyl-tRNA synthetase 1 | Always | In 1 condition |
| BAG3BAG cochaperone 3 | Very often (80–99%) | In 1 condition |
| GBE11,4-alpha-glucan branching enzyme 1 | Very often (80–99%) | In 1 condition |
| GJB1gap junction protein beta 1 | Very often (80–99%) | In 1 condition |
| GNB4G protein subunit beta 4 | Very often (80–99%) | In 1 condition |
| MFN2mitofusin 2 | Very often (80–99%) | In 1 condition |
| PDK3pyruvate dehydrogenase kinase 3 | Very often (80–99%) | In 2 conditions |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Very often (80–99%) | In 1 condition |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Very often (80–99%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Often (30–79%) | In 1 condition |
| COG8component of oligomeric golgi complex 8 | Often (30–79%) | In 1 condition |
| COX18cytochrome c oxidase assembly factor COX18 | Often (30–79%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Often (30–79%) | In 1 condition |
| HINT1histidine triad nucleotide binding protein 1 | Often (30–79%) | In 1 condition |
| KLC2kinesin light chain 2 | Often (30–79%) | In 1 condition |
| MRE11MRE11 double strand break repair nuclease | Often (30–79%) | In 2 conditions |
| NDC1NDC1 transmembrane nucleoporin | Often (30–79%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 1 condition |
| PMP2peripheral myelin protein 2 | Often (30–79%) | In 1 condition |
| RFC1replication factor C subunit 1 | Often (30–79%) | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Often (30–79%) | In 1 condition |
| VPS13Avacuolar protein sorting 13 homolog A | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sometimes (5–29%) | In 2 conditions |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Sometimes (5–29%) | In 1 condition |
Show 15 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| CADM3cell adhesion molecule 3 | Sometimes (5–29%) | In 1 condition |
| DYSFdysferlin | Sometimes (5–29%) | In 1 condition |
| HARS1histidyl-tRNA synthetase 1 | Sometimes (5–29%) | In 2 conditions |
| KLHL9kelch like family member 9 | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sometimes (5–29%) | In 1 condition |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| SACSsacsin molecular chaperone | Sometimes (5–29%) | In 2 conditions |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 2 conditions |
| POLG2DNA polymerase gamma 2, accessory subunit | Rarely (1–4%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Rarely (1–4%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Rarely (1–4%) | In 1 condition |
| ATXN3ataxin 3 | Not recorded | In 1 condition |
| SQSTM1sequestosome 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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