Trait
Abnormal myelination
Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
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 Test72 genes linked to Abnormal myelination
Changes in these genes cause rare conditions in which Abnormal myelination 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 |
|---|---|---|
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Very often (80–99%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Very often (80–99%) | In 1 condition |
| PLP1proteolipid protein 1 | Very often (80–99%) | In 1 condition |
| TFGtrafficking from ER to golgi regulator | Very often (80–99%) | In 1 condition |
| BORCS5BLOC-1 related complex subunit 5 | Often (30–79%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 1 condition |
| LAMB1laminin subunit beta 1 | Often (30–79%) | In 1 condition |
| MARS1methionyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| NGLY1N-glycanase 1 | Often (30–79%) | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Often (30–79%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Often (30–79%) | In 1 condition |
| SLC30A10solute carrier family 30 member 10 | Often (30–79%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Often (30–79%) | In 1 condition |
| ZFRzinc finger RNA binding protein | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ACTL6Bactin like 6B | Sometimes (5–29%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Sometimes (5–29%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sometimes (5–29%) | In 1 condition |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sometimes (5–29%) | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sometimes (5–29%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Sometimes (5–29%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Sometimes (5–29%) | In 1 condition |
| CLTCclathrin heavy chain | Sometimes (5–29%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sometimes (5–29%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sometimes (5–29%) | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| DNM1dynamin 1 | Sometimes (5–29%) | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sometimes (5–29%) | In 1 condition |
| FBXO28F-box protein 28 | Sometimes (5–29%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Sometimes (5–29%) | In 1 condition |
| FOXG1forkhead box G1 | Sometimes (5–29%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Sometimes (5–29%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sometimes (5–29%) | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sometimes (5–29%) | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sometimes (5–29%) | In 1 condition |
Show 32 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sometimes (5–29%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 1 condition |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sometimes (5–29%) | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sometimes (5–29%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sometimes (5–29%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sometimes (5–29%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sometimes (5–29%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sometimes (5–29%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sometimes (5–29%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Sometimes (5–29%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sometimes (5–29%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sometimes (5–29%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sometimes (5–29%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Sometimes (5–29%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Sometimes (5–29%) | In 1 condition |
| SOX3SRY-box transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| SYNJ1synaptojanin 1 | Sometimes (5–29%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Sometimes (5–29%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Sometimes (5–29%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Sometimes (5–29%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Sometimes (5–29%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | 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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