Trait
Cerebral hypomyelination
Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.
Summary
- Also called
- Hypomyelination of the brain
- 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 Cerebral hypomyelination, and the rest of your genome, with one test.
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Get my Genome Test32 genes linked to Cerebral hypomyelination
Changes in these genes cause rare conditions in which Cerebral 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 |
|---|---|---|
| BCAP31B cell receptor associated protein 31 | Always | In 2 conditions |
| MTHFSmethenyltetrahydrofolate synthetase | Always | In 1 condition |
| SLC25A12solute carrier family 25 member 12 | Always | In 1 condition |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Very often (80–99%) | In 1 condition |
| PLP1proteolipid protein 1 | Very often (80–99%) | In 2 conditions |
| AFG2AAAA ATPase AFG2A | Often (30–79%) | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Often (30–79%) | In 1 condition |
| RARS1arginyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| TBCDtubulin folding cofactor D | Often (30–79%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| CYB5Acytochrome b5 type A | Sometimes (5–29%) | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Sometimes (5–29%) | In 1 condition |
| FHfumarate hydratase | Sometimes (5–29%) | In 1 condition |
| PGAP2post-GPI attachment to proteins 2 | Sometimes (5–29%) | In 1 condition |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Sometimes (5–29%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sometimes (5–29%) | In 1 condition |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Sometimes (5–29%) | In 1 condition |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sometimes (5–29%) | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Sometimes (5–29%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sometimes (5–29%) | In 1 condition |
| WDR26WD repeat domain 26 | Sometimes (5–29%) | In 1 condition |
| ADSLadenylosuccinate lyase | Not recorded | In 1 condition |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Not recorded | In 1 condition |
| GJC2gap junction protein gamma 2 | Not recorded | In 1 condition |
| POLR3BRNA polymerase III subunit B | Not recorded | In 1 condition |
| SOX10SRY-box transcription factor 10 | Not recorded | In 1 condition |
| STXBP1syntaxin binding protein 1 | Not recorded | In 1 condition |
| TUBB4Atubulin beta 4A class IVa | Not recorded | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | 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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