Trait
Leukoencephalopathy
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
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 Test104 genes linked to Leukoencephalopathy
Changes in these genes cause rare conditions in which Leukoencephalopathy 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 |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Always | In 1 condition |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Always | In 1 condition |
| CTC1CST telomere replication complex component 1 | Always | In 1 condition |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Always | In 1 condition |
| EIF2B3eukaryotic translation initiation factor 2B subunit gamma | Always | In 1 condition |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Always | In 1 condition |
| HTRA1HtrA serine peptidase 1 | Always | In 1 condition |
| INTS11integrator complex subunit 11 | Always | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Always | In 1 condition |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Always | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Always | In 2 conditions |
| NOTCH3notch receptor 3 | Always | In 2 conditions |
| POT1protection of telomeres 1 | Always | In 1 condition |
| RRP12ribosomal RNA processing 12 homolog | Always | In 1 condition |
| SCP2sterol carrier protein 2 | Always | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Always | In 1 condition |
| SNF8SNF8 subunit of ESCRT-II | Always | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Always | In 2 conditions |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| YME1L1YME1 like 1 ATPase | Always | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Very often (80–99%) | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Very often (80–99%) | In 1 condition |
| LIG3DNA ligase 3 | Very often (80–99%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Very often (80–99%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Very often (80–99%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Very often (80–99%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Very often (80–99%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Very often (80–99%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Very often (80–99%) | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Very often (80–99%) | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Very often (80–99%) | In 1 condition |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Very often (80–99%) | In 2 conditions |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Very often (80–99%) | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Very often (80–99%) | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Very often (80–99%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Very often (80–99%) | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Very often (80–99%) | In 1 condition |
Show 64 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Very often (80–99%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Very often (80–99%) | In 2 conditions |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Very often (80–99%) | In 1 condition |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Very often (80–99%) | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Very often (80–99%) | In 2 conditions |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Very often (80–99%) | In 1 condition |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Very often (80–99%) | In 1 condition |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Very often (80–99%) | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Very often (80–99%) | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Very often (80–99%) | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Very often (80–99%) | In 2 conditions |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Very often (80–99%) | In 2 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Very often (80–99%) | In 2 conditions |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Very often (80–99%) | In 1 condition |
| SNORD118small nucleolar RNA, C/D box 118 | Very often (80–99%) | In 2 conditions |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Very often (80–99%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Very often (80–99%) | In 1 condition |
| TYMPthymidine phosphorylase | Very often (80–99%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Often (30–79%) | In 1 condition |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 2 conditions |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 1 condition |
| PLAAphospholipase A2 activating protein | Often (30–79%) | In 1 condition |
| PPFIBP1PPFIB scaffold protein 1 | Often (30–79%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Often (30–79%) | In 1 condition |
| WARS1tryptophanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| NAXENAD(P)HX epimerase | Sometimes (5–29%) | In 2 conditions |
| RNASET2ribonuclease T2 | Sometimes (5–29%) | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sometimes (5–29%) | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sometimes (5–29%) | In 1 condition |
| TTC5tetratricopeptide repeat domain 5 | Sometimes (5–29%) | In 1 condition |
| COA7cytochrome c oxidase assembly factor 7 | Rarely (1–4%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Rarely (1–4%) | In 1 condition |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Not recorded | In 1 condition |
| CLCN2chloride voltage-gated channel 2 | Not recorded | In 1 condition |
| CLN6CLN6 transmembrane ER protein | Not recorded | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Not recorded | In 1 condition |
| COX15cytochrome c oxidase assembly factor COX15 | Not recorded | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Not recorded | In 1 condition |
| CSF1Rcolony stimulating factor 1 receptor | Not recorded | In 1 condition |
| DARS1aspartyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Not recorded | In 1 condition |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Not recorded | In 1 condition |
| LAMB1laminin subunit beta 1 | Not recorded | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Not recorded | In 1 condition |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Not recorded | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Not recorded | In 1 condition |
| NFE2L2NFE2 like bZIP transcription factor 2 | Not recorded | In 1 condition |
| PMPCBpeptidase, mitochondrial processing subunit beta | Not recorded | In 1 condition |
| RPIAribose 5-phosphate isomerase A | Not recorded | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Not recorded | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Not recorded | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Not recorded | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Not recorded | In 1 condition |
| SURF1SURF1 cytochrome c oxidase assembly factor | Not recorded | In 1 condition |
| TACO1translational activator of cytochrome c oxidase I | Not recorded | In 1 condition |
| TMEM70transmembrane protein 70 | Not recorded | In 1 condition |
| TREX1three prime repair exonuclease 1 | Not recorded | In 1 condition |
| TYROBPtransmembrane immune signaling adaptor TYROBP | 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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