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Kenmerk
Abnormal myelination
Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
Samenvatting
- Lichaamssysteem
- Abnormality of the nervous system
Abnormal myelinationHP:0012447
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Mijn Genome Test bestellen72 genen gekoppeld aan Abnormal myelination
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Abnormal myelination voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Heel vaak (80–99%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Heel vaak (80–99%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| TFGtrafficking from ER to golgi regulator | Heel vaak (80–99%) | In 1 aandoening |
| BORCS5BLOC-1 related complex subunit 5 | Vaak (30–79%) | In 1 aandoening |
| C2CD3C2 domain containing 3 centriole elongation regulator | Vaak (30–79%) | In 1 aandoening |
| LAMB1laminin subunit beta 1 | Vaak (30–79%) | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Vaak (30–79%) | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SLC30A10solute carrier family 30 member 10 | Vaak (30–79%) | In 1 aandoening |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Vaak (30–79%) | In 1 aandoening |
| ZFRzinc finger RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACTL6Bactin like 6B | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Soms (5–29%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Soms (5–29%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Soms (5–29%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Soms (5–29%) | In 1 aandoening |
| CLTCclathrin heavy chain | Soms (5–29%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Soms (5–29%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Soms (5–29%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| DNM1dynamin 1 | Soms (5–29%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Soms (5–29%) | In 1 aandoening |
| FBXO28F-box protein 28 | Soms (5–29%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Soms (5–29%) | In 1 aandoening |
| FOXG1forkhead box G1 | Soms (5–29%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Soms (5–29%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Soms (5–29%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Soms (5–29%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Soms (5–29%) | In 1 aandoening |
Toon nog 32 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Soms (5–29%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Soms (5–29%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Soms (5–29%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Soms (5–29%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Soms (5–29%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Soms (5–29%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Soms (5–29%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Soms (5–29%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Soms (5–29%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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