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Egenskap
CNS hypomyelination
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Sammanfattning
- Kroppssystem
- Abnormality of the nervous system
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library(jsonlite)
url <- "https://dantelabs.com/traits/cns-hypomyelination.json"
page <- fromJSON(url)
page$trait$nameCNS hypomyelinationHP:0003429
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Läs generna kopplade till CNS hypomyelination, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test50 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 11 of these genesCLDN11EPRS1GJC2HYCC1PLP1POLR1CAbout this report →
- Other Inherited LeukodystrophiesReads 15 of these genesCLDN11EPRS1GJC2HYCC1PLP1POLR1CAbout this report →
- Inherited Neurodegenerative DisordersReads 30 of these genesCLDN11EPRS1GJC2HYCC1PLP1POLR1CAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 8 of these genesALS2FUSSIGMAR1SPG11SPTLC1SPTLC2About this report →
Show 46 more reports
- ACBD5 DeficiencyReads 1 of these genesACBD5About this report →
- INTU-Related Skeletal CiliopathyReads 1 of these genesINTUAbout this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- Kaya-Barakat-Masson SyndromeReads 1 of these genesYIF1BAbout this report →
- MED27-Related Neurodevelopmental DisorderReads 1 of these genesMED27About this report →
- Orofaciodigital Syndrome Type 14Reads 1 of these genesC2CD3About this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- POLR3B-Related DisorderReads 1 of these genesPOLR3BAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 13 of these genesFBXL4POLR3BGANAARS1HEXBSIGMAR1About this report →
- Charcot-Marie-Tooth DiseaseReads 7 of these genesPOLR3BAARS1SIGMAR1SORDSPG11GDAP1About this report →
- Hereditary Spastic ParaplegiaReads 6 of these genesGJC2PLP1ATP13A2ERLIN1SPG11SPTAN1About this report →
- Epilepsy (Full Panel)Reads 10 of these genesGABRA5GLULPIGARNU2-2AARS1ATP6V1AAbout this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 1 of these genesHEXBAbout this report →
- Treacher Collins SyndromeReads 1 of these genesPOLR1CAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesSPTLC1SPTLC2About this report →
- Congenital Disorders of GlycosylationReads 4 of these genesPIGADDOSTGNEDPAGT1About this report →
- Lysosomal Storage DiseaseReads 3 of these genesFUCA1GNEHEXBAbout this report →
- Spinal Muscular AtrophyReads 2 of these genesSIGMAR1SPTAN1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesFUCA1About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesADSLAbout this report →
- Primary Mitochondrial DiseaseReads 4 of these genesFBXL4C2orf69NARS2RMND1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesATP13A2About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesATP13A2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX13About this report →
- Parkinson DiseaseReads 1 of these genesATP13A2About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesGJC2About this report →
- Distal MyopathiesReads 1 of these genesGNEAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesAHCYAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesNMNAT1About this report →
- Dyskeratosis CongenitaReads 1 of these genesNOP10About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesLEMD2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesAFG2AAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesDPAGT1About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesPRKDCAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesTRAPPC11About this report →
- Osteogenesis ImperfectaReads 1 of these genesPOLR3AAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesBCAP31About this report →
- Dilated CardiomyopathyReads 1 of these genesSYNE1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesSYNE1About this report →
- Intellectual DisabilityReads 2 of these genesDYRK1AGRIK2About this report →
- Leigh SyndromeReads 1 of these genesFBXL4About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesPRKDCAbout this report →
Läs generna kopplade till CNS hypomyelination, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test89 gener kopplade till CNS hypomyelination
Förändringar i dessa gener orsakar sällsynta tillstånd där CNS hypomyelination förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alltid | I 1 tillstånd |
| BORCS8BLOC-1 related complex subunit 8 | Alltid | I 1 tillstånd |
| C2CD3C2 domain containing 3 centriole elongation regulator | Alltid | I 1 tillstånd |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tillstånd |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tillstånd |
| CLDN11claudin 11 | Alltid | I 1 tillstånd |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Alltid | I 1 tillstånd |
| EXOSC5exosome component 5 | Alltid | I 1 tillstånd |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tillstånd |
| FUCA1alpha-L-fucosidase 1 | Alltid | I 1 tillstånd |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Alltid | I 1 tillstånd |
| GJC2gap junction protein gamma 2 | Alltid | I 2 tillstånd |
| GLULglutamate-ammonia ligase | Alltid | I 2 tillstånd |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tillstånd |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Alltid | I 1 tillstånd |
| INTUinturned planar cell polarity protein | Alltid | I 1 tillstånd |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tillstånd |
| PLP1proteolipid protein 1 | Alltid | I 4 tillstånd |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tillstånd |
| POLR1CRNA polymerase I and III subunit C | Alltid | I 2 tillstånd |
| POLR3BRNA polymerase III subunit B | Alltid | I 3 tillstånd |
| PYCR2pyrroline-5-carboxylate reductase 2 | Alltid | I 2 tillstånd |
| RNF220ring finger protein 220 | Alltid | I 1 tillstånd |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tillstånd |
| SLC33A1solute carrier family 33 member 1 | Alltid | I 1 tillstånd |
| SNIP1Smad nuclear interacting protein 1 | Alltid | I 1 tillstånd |
| C2orf69chromosome 2 open reading frame 69 | Mycket ofta (80–99 %) | I 1 tillstånd |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Mycket ofta (80–99 %) | I 1 tillstånd |
| GANgigaxonin | Mycket ofta (80–99 %) | I 1 tillstånd |
| GRM7glutamate metabotropic receptor 7 | Mycket ofta (80–99 %) | I 1 tillstånd |
| GTPBP2GTP binding protein 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NKX6-2NK6 homeobox 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| POLR3ARNA polymerase III subunit A | Mycket ofta (80–99 %) | I 4 tillstånd |
| AARS1alanyl-tRNA synthetase 1 | Ofta (30–79 %) | I 1 tillstånd |
| ADSLadenylosuccinate lyase | Ofta (30–79 %) | I 1 tillstånd |
| AHCYadenosylhomocysteinase | Ofta (30–79 %) | I 1 tillstånd |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofta (30–79 %) | I 1 tillstånd |
| ATP13A2ATPase cation transporting 13A2 | Ofta (30–79 %) | I 1 tillstånd |
| CHKAcholine kinase alpha | Ofta (30–79 %) | I 1 tillstånd |
| DALRD3DALR anticodon binding domain containing 3 | Ofta (30–79 %) | I 1 tillstånd |
Visa 49 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| DARS1aspartyl-tRNA synthetase 1 | Ofta (30–79 %) | I 1 tillstånd |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofta (30–79 %) | I 1 tillstånd |
| ELOVL1ELOVL fatty acid elongase 1 | Ofta (30–79 %) | I 1 tillstånd |
| ERLIN1ER lipid raft associated 1 | Ofta (30–79 %) | I 1 tillstånd |
| EXOC2exocyst complex component 2 | Ofta (30–79 %) | I 1 tillstånd |
| FUSFUS RNA binding protein | Ofta (30–79 %) | I 1 tillstånd |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofta (30–79 %) | I 1 tillstånd |
| HEXBhexosaminidase subunit beta | Ofta (30–79 %) | I 2 tillstånd |
| LEMD2LEM domain nuclear envelope protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofta (30–79 %) | I 1 tillstånd |
| NOP10NOP10 ribonucleoprotein | Ofta (30–79 %) | I 1 tillstånd |
| PURApurine rich element binding protein A | Ofta (30–79 %) | I 1 tillstånd |
| SIGMAR1sigma receptor chaperone 1 | Ofta (30–79 %) | I 1 tillstånd |
| SMPD4sphingomyelin phosphodiesterase 4 | Ofta (30–79 %) | I 1 tillstånd |
| SORDsorbitol dehydrogenase | Ofta (30–79 %) | I 1 tillstånd |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofta (30–79 %) | I 1 tillstånd |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofta (30–79 %) | I 1 tillstånd |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofta (30–79 %) | I 1 tillstånd |
| STAMBPSTAM binding protein | Ofta (30–79 %) | I 1 tillstånd |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| TARDBPTAR DNA binding protein | Ofta (30–79 %) | I 1 tillstånd |
| TIAM1TIAM Rac1 associated GEF 1 | Ofta (30–79 %) | I 1 tillstånd |
| TRMT2BtRNA methyltransferase 2B | Ofta (30–79 %) | I 1 tillstånd |
| UBQLN2ubiquilin 2 | Ofta (30–79 %) | I 1 tillstånd |
| AFG2AAAA ATPase AFG2A | Ibland (5–29 %) | I 1 tillstånd |
| ATP6V1AATPase H+ transporting V1 subunit A | Ibland (5–29 %) | I 1 tillstånd |
| BCAP31B cell receptor associated protein 31 | Ibland (5–29 %) | I 1 tillstånd |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| IFT56intraflagellar transport 56 | Ibland (5–29 %) | I 1 tillstånd |
| LGI1leucine rich glioma inactivated 1 | Ibland (5–29 %) | I 1 tillstånd |
| MED27mediator complex subunit 27 | Ibland (5–29 %) | I 1 tillstånd |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Ibland (5–29 %) | I 1 tillstånd |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Ibland (5–29 %) | I 1 tillstånd |
| TBCDtubulin folding cofactor D | Ibland (5–29 %) | I 1 tillstånd |
| TRAPPC11trafficking protein particle complex subunit 11 | Ibland (5–29 %) | I 1 tillstånd |
| WSB2WD repeat and SOCS box containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Ibland (5–29 %) | I 1 tillstånd |
| CNTNAP1contactin associated protein 1 | Inte registrerat | I 1 tillstånd |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Inte registrerat | I 1 tillstånd |
| GDAP1ganglioside induced differentiation associated protein 1 | Inte registrerat | I 1 tillstånd |
| MTHFSmethenyltetrahydrofolate synthetase | Inte registrerat | I 1 tillstånd |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Inte registrerat | I 1 tillstånd |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Inte registrerat | I 1 tillstånd |
| PEX13peroxisomal biogenesis factor 13 | Inte registrerat | I 1 tillstånd |
| PI4KAphosphatidylinositol 4-kinase alpha | Inte registrerat | I 1 tillstånd |
| QARS1glutaminyl-tRNA synthetase 1 | Inte registrerat | I 1 tillstånd |
| RMND1required for meiotic nuclear division 1 homolog | Inte registrerat | I 1 tillstånd |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
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Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.19-9814e911.
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The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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