Trait
Balance impairment
Clinical name: Postural instability
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Summary
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test110 genes linked to Balance impairment
Changes in these genes cause rare conditions in which Balance impairment 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Always | In 2 conditions |
| ABCC9ATP binding cassette subfamily C member 9 | Always | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Always | In 3 conditions |
| COQ4coenzyme Q4 | Always | In 2 conditions |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Always | In 3 conditions |
| EPG5ectopic P-granules 5 autophagy tethering factor | Always | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Always | In 1 condition |
| FBXO7F-box protein 7 | Always | In 2 conditions |
| LAMB1laminin subunit beta 1 | Always | In 1 condition |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Always | In 1 condition |
| MAPTmicrotubule associated protein tau | Always | In 6 conditions |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Always | In 1 condition |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Always | In 2 conditions |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Very often (80–99%) | In 2 conditions |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Very often (80–99%) | In 1 condition |
| MMEmembrane metalloendopeptidase | Very often (80–99%) | In 1 condition |
| PODXLpodocalyxin like | Very often (80–99%) | In 2 conditions |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Very often (80–99%) | In 1 condition |
| SYNJ1synaptojanin 1 | Very often (80–99%) | In 3 conditions |
| ACBD6acyl-CoA binding domain containing 6 | Often (30–79%) | In 1 condition |
| ATN1atrophin 1 | Often (30–79%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Often (30–79%) | In 2 conditions |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Often (30–79%) | In 1 condition |
| ATXN8ataxin 8 | Often (30–79%) | In 1 condition |
| ATXN8OSATXN8 opposite strand lncRNA | Often (30–79%) | In 2 conditions |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Often (30–79%) | In 1 condition |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Often (30–79%) | In 3 conditions |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Often (30–79%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Often (30–79%) | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Often (30–79%) | In 4 conditions |
| DDHD1DDHD domain containing 1 | Often (30–79%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Often (30–79%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 2 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Often (30–79%) | In 2 conditions |
| FMR1fragile X messenger ribonucleoprotein 1 | Often (30–79%) | In 1 condition |
| HTRA2HtrA serine peptidase 2 | Often (30–79%) | In 1 condition |
| KCND3potassium voltage-gated channel subfamily D member 3 | Often (30–79%) | In 1 condition |
Show 70 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LRRK2leucine rich repeat kinase 2 | Often (30–79%) | In 3 conditions |
| MAB21L1mab-21 like 1 | Often (30–79%) | In 1 condition |
| NPHP1nephrocystin 1 | Often (30–79%) | In 1 condition |
| PARK7Parkinsonism associated deglycase | Often (30–79%) | In 1 condition |
| PINK1PTEN induced kinase 1 | Often (30–79%) | In 2 conditions |
| PLA2G6phospholipase A2 group VI | Often (30–79%) | In 2 conditions |
| PMP22peripheral myelin protein 22 | Often (30–79%) | In 1 condition |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Often (30–79%) | In 1 condition |
| PRKNparkin RBR E3 ubiquitin protein ligase | Often (30–79%) | In 2 conditions |
| PRRT2proline rich transmembrane protein 2 | Often (30–79%) | In 1 condition |
| RAB32RAB32, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RAB39BRAB39B, member RAS oncogene family | Often (30–79%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Often (30–79%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 1 condition |
| SLC30A10solute carrier family 30 member 10 | Often (30–79%) | In 2 conditions |
| SNCAsynuclein alpha | Often (30–79%) | In 4 conditions |
| STUB1STIP1 homology and U-box containing protein 1 | Often (30–79%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Often (30–79%) | In 2 conditions |
| VPS13Cvacuolar protein sorting 13 homolog C | Often (30–79%) | In 2 conditions |
| ABCC6ATP binding cassette subfamily C member 6 | Sometimes (5–29%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sometimes (5–29%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Sometimes (5–29%) | In 1 condition |
| CABP4calcium binding protein 4 | Sometimes (5–29%) | In 1 condition |
| CXCR4C-X-C motif chemokine receptor 4 | Sometimes (5–29%) | In 1 condition |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Sometimes (5–29%) | In 1 condition |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Sometimes (5–29%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 2 conditions |
| GIGYF2GRB10 interacting GYF protein 2 | Sometimes (5–29%) | In 2 conditions |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Sometimes (5–29%) | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sometimes (5–29%) | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Sometimes (5–29%) | In 1 condition |
| LCA5lebercilin LCA5 | Sometimes (5–29%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Sometimes (5–29%) | In 1 condition |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sometimes (5–29%) | In 1 condition |
| NIPA1NIPA magnesium transporter 1 | Sometimes (5–29%) | In 1 condition |
| NIPA2NIPA magnesium transporter 2 | Sometimes (5–29%) | In 1 condition |
| OPHN1oligophrenin 1 | Sometimes (5–29%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Sometimes (5–29%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Sometimes (5–29%) | In 1 condition |
| POU3F3POU class 3 homeobox 3 | Sometimes (5–29%) | In 1 condition |
| PRPH2peripherin 2 | Sometimes (5–29%) | In 1 condition |
| RNASEH1ribonuclease H1 | Sometimes (5–29%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Sometimes (5–29%) | In 1 condition |
| RUBCNrubicon autophagy regulator | Sometimes (5–29%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Sometimes (5–29%) | In 1 condition |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sometimes (5–29%) | In 1 condition |
| TUBG1tubulin gamma 1 | Sometimes (5–29%) | In 1 condition |
| VPS35VPS35 retromer complex component | Sometimes (5–29%) | In 2 conditions |
| ADAT3adenosine deaminase tRNA specific 3 | Rarely (1–4%) | In 1 condition |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| ATXN2ataxin 2 | Not recorded | In 2 conditions |
| ATXN3ataxin 3 | Not recorded | In 2 conditions |
| CSF1Rcolony stimulating factor 1 receptor | Not recorded | In 1 condition |
| GARS1glycyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| JAM2junctional adhesion molecule 2 | Not recorded | In 1 condition |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Not recorded | In 1 condition |
| MYORGmyogenesis regulating glycosidase | Not recorded | In 1 condition |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Not recorded | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Not recorded | In 1 condition |
| PDGFBplatelet derived growth factor subunit B | Not recorded | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Not recorded | In 1 condition |
| RFC1replication factor C subunit 1 | Not recorded | In 1 condition |
| SLC20A2solute carrier family 20 member 2 | Not recorded | In 1 condition |
| SNCAIPsynuclein alpha interacting protein | Not recorded | In 1 condition |
| TBPTATA-box binding protein | Not recorded | In 1 condition |
| XPR1xenotropic and polytropic retrovirus receptor 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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