Tunnus
Gray matter heterotopia
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Kokkuvõte
- Teised nimetused
- Gray matter heterotopias, Grey matter heterotopia, Grey matter heterotopias, Heterotopia, Heterotopias, Neuronal heterotopia
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Gray matter heterotopia, and the rest of your genome, with one test.
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Telli oma Genome Test97 geeni on seotud tunnusega Gray matter heterotopia
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Gray matter heterotopia. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACTBactin beta | Alati | Esineb 1 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Alati | Esineb 1 haiguses |
| EML1EMAP like 1 | Alati | Esineb 1 haiguses |
| GPSM2G protein signaling modulator 2 | Alati | Esineb 2 haiguses |
| MAP1Bmicrotubule associated protein 1B | Alati | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Alati | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Alati | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Alati | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Alati | Esineb 1 haiguses |
| WSB2WD repeat and SOCS box containing 2 | Alati | Esineb 1 haiguses |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ASPMassembly factor for spindle microtubules | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDK6cyclin dependent kinase 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CENPEcentromere protein E | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP135centrosomal protein 135 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP152centrosomal protein 152 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CITcitron rho-interacting serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| COPB2coat protein complex I subunit beta 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPAPcentrosome assembly and centriole elongation protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIF14kinesin family member 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KNL1kinetochore scaffold 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MCM7minichromosome maintenance complex component 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MCPH1microcephalin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL5methyltransferase 5, N6-adenosine | Väga sageli (80–99%) | Esineb 1 haiguses |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCAPD3non-SMC condensin II complex subunit D3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUP37nucleoporin 37 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDCD6IPprogrammed cell death 6 interacting protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHC1polyhomeotic homolog 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SARS1seryl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SASS6SAS-6 centriolar assembly protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| STILSTIL centriolar assembly protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| TAF13TATA-box binding protein associated factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAPPC10trafficking protein particle complex subunit 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAPPC14trafficking protein particle complex subunit 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WARS1tryptophanyl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR62WD repeat domain 62 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 57 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| EPG5ectopic P-granules 5 autophagy tethering factor | Sageli (30–79%) | Esineb 2 haiguses |
| FKRPfukutin related protein | Sageli (30–79%) | Esineb 2 haiguses |
| GGT1gamma-glutamyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sageli (30–79%) | Esineb 2 haiguses |
| LAMB1laminin subunit beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MAN2C1mannosidase alpha class 2C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MLH1mutL homolog 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PMS2PMS1 homolog 2, mismatch repair system component | Sageli (30–79%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sageli (30–79%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Sageli (30–79%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| POMT2protein O-mannosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC4A10solute carrier family 4 member 10 | Sageli (30–79%) | Esineb 1 haiguses |
| TCP1t-complex 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sageli (30–79%) | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ADD3adducin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AKT3AKT serine/threonine kinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARMC9armadillo repeat containing 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRB2crumbs cell polarity complex component 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FAT4FAT atypical cadherin 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| LMBRD2LMBR1 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLCH1phospholipase C eta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPFIBP1PPFIB scaffold protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB2Btubulin beta 2B class IIb | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Harva (1–4%) | Esineb 2 haiguses |
| FKTNfukutin | Harva (1–4%) | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| BLTP1bridge-like lipid transfer protein family member 1 | Pole registreeritud | Esineb 1 haiguses |
| DCXdoublecortin | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Pole registreeritud | Esineb 1 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| KIF2Akinesin family member 2A | Pole registreeritud | Esineb 1 haiguses |
| LAMA1laminin subunit alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Pole registreeritud | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Pole registreeritud | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Pole registreeritud | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | Pole registreeritud | Esineb 1 haiguses |
| TUBA1Atubulin alpha 1a | Pole registreeritud | Esineb 1 haiguses |
| USP18ubiquitin specific peptidase 18 | Pole registreeritud | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast