Træk
Brisk reflexes
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Resumé
- Også kaldet
- Brisk deep tendon reflexes
- 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 Test135 gener knyttet til Brisk reflexes
Ændringer i disse gener forårsager sjældne tilstande, hvor Brisk reflexes 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 |
|---|---|---|
| ATG5autophagy related 5 | Altid | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Altid | I 2 tilstande |
| BCAT2branched chain amino acid transaminase 2 | Altid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altid | I 2 tilstande |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| DARS1aspartyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Altid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| GDAP2ganglioside induced differentiation associated protein 2 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Altid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Altid | I 1 tilstand |
| MALmal, T cell differentiation protein (MAL blood group) | Altid | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Altid | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altid | I 1 tilstand |
| MMAAmetabolism of cobalamin associated A | Altid | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Altid | I 1 tilstand |
| MRPS25mitochondrial ribosomal protein S25 | Altid | I 1 tilstand |
| MSTNmyostatin | Altid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Altid | I 2 tilstande |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Altid | I 2 tilstande |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Altid | I 1 tilstand |
| PDE8Bphosphodiesterase 8B | Altid | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Altid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| RNF170ring finger protein 170 | Altid | I 1 tilstand |
| RTN2reticulon 2 | Altid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Altid | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Altid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Altid | I 1 tilstand |
Vis 95 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TANGO2transport and golgi organization 2 homolog | Altid | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Altid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| CDC40cell division cycle 40 | Meget ofte (80–99 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Meget ofte (80–99 %) | I 1 tilstand |
| PPIL1peptidylprolyl isomerase like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| REEP1receptor accessory protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Meget ofte (80–99 %) | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 2 tilstande |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 1 tilstand |
| ANO10anoctamin 10 | Ofte (30–79 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 1 tilstand |
| COQ5coenzyme Q5, methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 1 tilstand |
| COX11cytochrome c oxidase copper chaperone COX11 | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Ofte (30–79 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ofte (30–79 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN5gem nuclear organelle associated protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Ofte (30–79 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Ofte (30–79 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 1 tilstand |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Ofte (30–79 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| SPASTspastin | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Ofte (30–79 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Ofte (30–79 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CADM3cell adhesion molecule 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| FBLN5fibulin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| FTLferritin light chain | Nogle gange (5–29 %) | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PITRM1pitrilysin metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 2 tilstande |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SETSET nuclear proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A5solute carrier family 6 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Nogle gange (5–29 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Sjældent (1–4%) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Ikke registreret | I 1 tilstand |
| COX5Acytochrome c oxidase subunit 5A | Ikke registreret | I 1 tilstand |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | 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.
Bredere træk
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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger