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Trait
Limb ataxia
A kind of ataxia that affects movements of the extremities.
Summary
- Also called
- Appendicular ataxia
- Body system
- Abnormality of the nervous system
Limb ataxiaHP:0002070
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Read the genes linked to Limb ataxia, and the rest of your genome, with one test.
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Get my Genome Test92 genes linked to Limb ataxia
Changes in these genes cause rare conditions in which Limb ataxia 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 |
|---|---|---|
| ANO10anoctamin 10 | Always | In 2 conditions |
| ATXN10ataxin 10 | Always | In 1 condition |
| CAPN1calpain 1 | Always | In 2 conditions |
| CERS1ceramide synthase 1 | Always | In 1 condition |
| CLCN2chloride voltage-gated channel 2 | Always | In 1 condition |
| CWF19L1CWF19 like cell cycle control factor 1 | Always | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Always | In 1 condition |
| ELOVL5ELOVL fatty acid elongase 5 | Always | In 1 condition |
| FAT2FAT atypical cadherin 2 | Always | In 1 condition |
| FGF12fibroblast growth factor 12 | Always | In 1 condition |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Always | In 2 conditions |
| NOP56NOP56 ribonucleoprotein | Always | In 2 conditions |
| PDYNprodynorphin | Always | In 2 conditions |
| PRDX3peroxiredoxin 3 | Always | In 1 condition |
| SLC30A9solute carrier family 30 member 9 | Always | In 1 condition |
| SLC9A1solute carrier family 9 member A1 | Always | In 1 condition |
| STUB1STIP1 homology and U-box containing protein 1 | Always | In 2 conditions |
| SYT14synaptotagmin 14 | Always | In 2 conditions |
| UBA5ubiquitin like modifier activating enzyme 5 | Always | In 1 condition |
| XRCC1X-ray repair cross complementing 1 | Always | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Very often (80–99%) | In 2 conditions |
| CSTBcystatin B | Very often (80–99%) | In 1 condition |
| EEF2eukaryotic translation elongation factor 2 | Very often (80–99%) | In 2 conditions |
| FGF14fibroblast growth factor 14 | Very often (80–99%) | In 3 conditions |
| FXNfrataxin | Very often (80–99%) | In 2 conditions |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Very often (80–99%) | In 1 condition |
| JAM2junctional adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| PRICKLE1prickle planar cell polarity protein 1 | Very often (80–99%) | In 1 condition |
| RFC1replication factor C subunit 1 | Very often (80–99%) | In 1 condition |
| RUBCNrubicon autophagy regulator | Very often (80–99%) | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Very often (80–99%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Very often (80–99%) | In 1 condition |
| TTBK2tau tubulin kinase 2 | Very often (80–99%) | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | Very often (80–99%) | In 1 condition |
| VPS41VPS41 subunit of HOPS complex | Very often (80–99%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Very often (80–99%) | In 2 conditions |
| ATN1atrophin 1 | Often (30–79%) | In 1 condition |
| ATXN8ataxin 8 | Often (30–79%) | In 1 condition |
| ATXN8OSATXN8 opposite strand lncRNA | Often (30–79%) | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Often (30–79%) | In 1 condition |
Show 52 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| COQ4coenzyme Q4 | Often (30–79%) | In 1 condition |
| CPceruloplasmin | Often (30–79%) | In 1 condition |
| GJB1gap junction protein beta 1 | Often (30–79%) | In 1 condition |
| GPRC5BG protein-coupled receptor class C group 5 member B | Often (30–79%) | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Often (30–79%) | In 2 conditions |
| KCND3potassium voltage-gated channel subfamily D member 3 | Often (30–79%) | In 2 conditions |
| MMEmembrane metalloendopeptidase | Often (30–79%) | In 2 conditions |
| MPZmyelin protein zero | Often (30–79%) | In 1 condition |
| MTPAPmitochondrial poly(A) polymerase | Often (30–79%) | In 1 condition |
| NEFLneurofilament light chain | Often (30–79%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 2 conditions |
| PMP22peripheral myelin protein 22 | Often (30–79%) | In 1 condition |
| PRKCGprotein kinase C gamma | Often (30–79%) | In 1 condition |
| RTN2reticulon 2 | Often (30–79%) | In 1 condition |
| SCYL1SCY1 like pseudokinase 1 | Often (30–79%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 1 condition |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Often (30–79%) | In 1 condition |
| TGM6transglutaminase 6 | Often (30–79%) | In 1 condition |
| TPP1tripeptidyl peptidase 1 | Often (30–79%) | In 2 conditions |
| UBAP1ubiquitin associated protein 1 | Often (30–79%) | In 2 conditions |
| VAMP1vesicle associated membrane protein 1 | Often (30–79%) | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Often (30–79%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Sometimes (5–29%) | In 1 condition |
| CXCR4C-X-C motif chemokine receptor 4 | Sometimes (5–29%) | In 1 condition |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Sometimes (5–29%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Sometimes (5–29%) | In 1 condition |
| TTC19tetratricopeptide repeat domain 19 | Sometimes (5–29%) | In 1 condition |
| TTRtransthyretin | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Rarely (1–4%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| ATXN1ataxin 1 | Not recorded | In 1 condition |
| ATXN2ataxin 2 | Not recorded | In 1 condition |
| ATXN3ataxin 3 | Not recorded | In 1 condition |
| BEAN1brain expressed associated with NEDD4 1 | Not recorded | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Not recorded | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Not recorded | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Not recorded | In 1 condition |
| NKX6-2NK6 homeobox 2 | Not recorded | In 1 condition |
| PLD3phospholipase D family member 3 | Not recorded | In 1 condition |
| PMPCApeptidase, mitochondrial processing subunit alpha | Not recorded | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Not recorded | In 1 condition |
| PRNPprion protein (Kanno blood group) | Not recorded | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Not recorded | In 1 condition |
| SETXsenataxin | Not recorded | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Not recorded | In 1 condition |
| SPTBN2spectrin beta, non-erythrocytic 2 | Not recorded | In 1 condition |
| SQSTM1sequestosome 1 | Not recorded | In 1 condition |
| TBC1D23TBC1 domain family member 23 | Not recorded | In 1 condition |
| TBPTATA-box binding protein | Not recorded | In 1 condition |
| TMEM240transmembrane protein 240 | 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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Log InAskGet Startedfrom $449
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