Trait
CNS hypomyelination
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Summary
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to CNS hypomyelination, and the rest of your genome, with one test.
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Get my Genome Test89 genes linked to CNS hypomyelination
Changes in these genes cause rare conditions in which CNS hypomyelination 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Always | In 1 condition |
| CCT3chaperonin containing TCP1 subunit 3 | Always | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| CLDN11claudin 11 | Always | In 1 condition |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Always | In 1 condition |
| EXOSC5exosome component 5 | Always | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Always | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Always | In 1 condition |
| GJC2gap junction protein gamma 2 | Always | In 2 conditions |
| GLULglutamate-ammonia ligase | Always | In 2 conditions |
| GTPBP1GTP binding protein 1 | Always | In 1 condition |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Always | In 1 condition |
| INTUinturned planar cell polarity protein | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PLP1proteolipid protein 1 | Always | In 4 conditions |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Always | In 2 conditions |
| POLR3BRNA polymerase III subunit B | Always | In 3 conditions |
| PYCR2pyrroline-5-carboxylate reductase 2 | Always | In 2 conditions |
| RNF220ring finger protein 220 | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| SLC33A1solute carrier family 33 member 1 | Always | In 1 condition |
| SNIP1Smad nuclear interacting protein 1 | Always | In 1 condition |
| C2orf69chromosome 2 open reading frame 69 | Very often (80–99%) | In 1 condition |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Very often (80–99%) | In 1 condition |
| GANgigaxonin | Very often (80–99%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Very often (80–99%) | In 1 condition |
| GTPBP2GTP binding protein 2 | Very often (80–99%) | In 1 condition |
| NKX6-2NK6 homeobox 2 | Very often (80–99%) | In 2 conditions |
| POLR3ARNA polymerase III subunit A | Very often (80–99%) | In 4 conditions |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ADSLadenylosuccinate lyase | Often (30–79%) | In 1 condition |
| AHCYadenosylhomocysteinase | Often (30–79%) | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Often (30–79%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Often (30–79%) | In 1 condition |
| CHKAcholine kinase alpha | Often (30–79%) | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Often (30–79%) | In 1 condition |
Show 49 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| DARS1aspartyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Often (30–79%) | In 1 condition |
| ERLIN1ER lipid raft associated 1 | Often (30–79%) | In 1 condition |
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Often (30–79%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Often (30–79%) | In 2 conditions |
| LEMD2LEM domain nuclear envelope protein 2 | Often (30–79%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Often (30–79%) | In 1 condition |
| PURApurine rich element binding protein A | Often (30–79%) | In 1 condition |
| SIGMAR1sigma receptor chaperone 1 | Often (30–79%) | In 1 condition |
| SMPD4sphingomyelin phosphodiesterase 4 | Often (30–79%) | In 1 condition |
| SORDsorbitol dehydrogenase | Often (30–79%) | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Often (30–79%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Often (30–79%) | In 1 condition |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Often (30–79%) | In 1 condition |
| STAMBPSTAM binding protein | Often (30–79%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 1 condition |
| TIAM1TIAM Rac1 associated GEF 1 | Often (30–79%) | In 1 condition |
| TRMT2BtRNA methyltransferase 2B | Often (30–79%) | In 1 condition |
| UBQLN2ubiquilin 2 | Often (30–79%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Sometimes (5–29%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Sometimes (5–29%) | In 1 condition |
| BCAP31B cell receptor associated protein 31 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| IFT56intraflagellar transport 56 | Sometimes (5–29%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Sometimes (5–29%) | In 1 condition |
| MED27mediator complex subunit 27 | Sometimes (5–29%) | In 1 condition |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Sometimes (5–29%) | In 1 condition |
| TBCDtubulin folding cofactor D | Sometimes (5–29%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Sometimes (5–29%) | In 1 condition |
| WSB2WD repeat and SOCS box containing 2 | Sometimes (5–29%) | In 1 condition |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Sometimes (5–29%) | In 1 condition |
| CNTNAP1contactin associated protein 1 | Not recorded | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Not recorded | In 1 condition |
| GDAP1ganglioside induced differentiation associated protein 1 | Not recorded | In 1 condition |
| MTHFSmethenyltetrahydrofolate synthetase | Not recorded | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Not recorded | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Not recorded | In 1 condition |
| QARS1glutaminyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| RMND1required for meiotic nuclear division 1 homolog | Not recorded | In 1 condition |
| SPTAN1spectrin alpha, non-erythrocytic 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.
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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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