Træk
More grooves in brain
Klinisk navn: Polymicrogyria
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Resumé
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test171 gener knyttet til More grooves in brain
Ændringer i disse gener forårsager sjældne tilstande, hvor More grooves in brain ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CCND2cyclin D2 | Altid | I 2 tilstande |
| COL4A2collagen type IV alpha 2 chain | Altid | I 1 tilstand |
| DAG1dystroglycan 1 | Altid | I 3 tilstande |
| EML1EMAP like 1 | Altid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altid | I 1 tilstand |
| GPHNgephyrin | Altid | I 1 tilstand |
| GPSM2G protein signaling modulator 2 | Altid | I 2 tilstande |
| IBA57iron-sulfur cluster assembly factor IBA57 | Altid | I 2 tilstande |
| KIF5Ckinesin family member 5C | Altid | I 1 tilstand |
| KLHL15kelch like family member 15 | Altid | I 1 tilstand |
| LAMC3laminin subunit gamma 3 | Altid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Altid | I 2 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Altid | I 2 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Altid | I 2 tilstande |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Altid | I 2 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 1 tilstand |
| SLC5A6solute carrier family 5 member 6 | Altid | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Altid | I 2 tilstande |
| SNAPINSNAP associated protein | Altid | I 1 tilstand |
| TCTN2tectonic family member 2 | Altid | I 2 tilstande |
| TUBB2Btubulin beta 2B class IIb | Altid | I 3 tilstande |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Meget ofte (80–99 %) | I 3 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 2 tilstande |
| ERMARDER membrane associated RNA degradation | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 3 tilstande |
| FKTNfukutin | Meget ofte (80–99 %) | I 3 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 3 tilstande |
Vis 131 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Meget ofte (80–99 %) | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 3 tilstande |
| PTENphosphatase and tensin homolog | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCP1t-complex 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBA8tubulin alpha 8 | Meget ofte (80–99 %) | I 1 tilstand |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ofte (30–79 %) | I 2 tilstande |
| DHX37DEAH-box helicase 37 | Ofte (30–79 %) | I 1 tilstand |
| EOMESeomesodermin | Ofte (30–79 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 1 tilstand |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Ofte (30–79 %) | I 2 tilstande |
| KIF26Akinesin family member 26A | Ofte (30–79 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP1Bmicrotubule associated protein 1B | Ofte (30–79 %) | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Ofte (30–79 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Ofte (30–79 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ofte (30–79 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 2 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 2 tilstande |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 4 tilstande |
| RAB18RAB18, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| RRAGCRas related GTP binding C | Ofte (30–79 %) | I 1 tilstand |
| RTTNrotatin | Ofte (30–79 %) | I 2 tilstande |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ofte (30–79 %) | I 2 tilstande |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 2 tilstande |
| TMX2thioredoxin related transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Ofte (30–79 %) | I 1 tilstand |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 2 tilstande |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ARL13BARF like GTPase 13B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 2 tilstande |
| COL25A1collagen type XXV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CPT2carnitine palmitoyltransferase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FLVCR2FLVCR choline and putative heme transporter 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 2 tilstande |
| KATNIPkatanin interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Nogle gange (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Nogle gange (5–29 %) | I 3 tilstande |
| VPS4Avacuolar protein sorting 4 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sjældent (1–4%) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| NPRL2NPR2 like, GATOR1 complex subunit | Sjældent (1–4%) | I 1 tilstand |
| NPRL3NPR3 like, GATOR1 complex subunit | Sjældent (1–4%) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Sjældent (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjældent (1–4%) | I 2 tilstande |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registreret | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registreret | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ikke registreret | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registreret | I 1 tilstand |
| FHfumarate hydratase | Ikke registreret | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| PAX6paired box 6 | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ikke registreret | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| USP18ubiquitin specific peptidase 18 | Ikke registreret | I 1 tilstand |
| WDR62WD repeat domain 62 | Ikke registreret | I 1 tilstand |
| WT1WT1 transcription factor | Ikke registreret | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger