Træk
Abnormal full-field electroretinogram
An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG.
Resumé
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Bestil min Genome Test137 gener knyttet til Abnormal full-field electroretinogram
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormal full-field electroretinogram 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 |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Ofte (30–79 %) | I 2 tilstande |
| ADAM9ADAM metallopeptidase domain 9 | Ofte (30–79 %) | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Ofte (30–79 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Ofte (30–79 %) | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Ofte (30–79 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Ofte (30–79 %) | I 2 tilstande |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 1 tilstand |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Ofte (30–79 %) | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Ofte (30–79 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 1 tilstand |
| ATF6activating transcription factor 6 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BEST1bestrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| CA4carbonic anhydrase 4 | Ofte (30–79 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Ofte (30–79 %) | I 1 tilstand |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Ofte (30–79 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CDHR1cadherin related family member 1 | Ofte (30–79 %) | I 2 tilstande |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CERKLCERK like autophagy regulator | Ofte (30–79 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 2 tilstande |
| CLRN1clarin 1 | Ofte (30–79 %) | I 1 tilstand |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| COQ8Bcoenzyme Q8B | Ofte (30–79 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Ofte (30–79 %) | I 2 tilstande |
| CRXcone-rod homeobox | Ofte (30–79 %) | I 3 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Ofte (30–79 %) | I 1 tilstand |
| DRAM2DNA damage regulated autophagy modulator 2 | Ofte (30–79 %) | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Ofte (30–79 %) | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Ofte (30–79 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Ofte (30–79 %) | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Ofte (30–79 %) | I 1 tilstand |
Vis 97 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Ofte (30–79 %) | I 2 tilstande |
| GDF6growth differentiation factor 6 | Ofte (30–79 %) | I 1 tilstand |
| GUCA1Aguanylate cyclase activator 1A | Ofte (30–79 %) | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Ofte (30–79 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ofte (30–79 %) | I 2 tilstande |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HKDC1hexokinase domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 2 tilstande |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT88intraflagellar transport 88 | Ofte (30–79 %) | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Ofte (30–79 %) | I 2 tilstande |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Ofte (30–79 %) | I 1 tilstand |
| KIAA1549KIAA1549 | Ofte (30–79 %) | I 1 tilstand |
| KIZkizuna centrosomal protein | Ofte (30–79 %) | I 1 tilstand |
| KLHL7kelch like family member 7 | Ofte (30–79 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Ofte (30–79 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Ofte (30–79 %) | I 2 tilstande |
| MAKmale germ cell associated kinase | Ofte (30–79 %) | I 1 tilstand |
| MERTKMER proto-oncogene, tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ofte (30–79 %) | I 1 tilstand |
| NEK2NIMA related kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Ofte (30–79 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| OPN1LWopsin 1, long wave sensitive | Ofte (30–79 %) | I 1 tilstand |
| OPN1MWopsin 1, medium wave sensitive | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PAX6paired box 6 | Ofte (30–79 %) | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Ofte (30–79 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ofte (30–79 %) | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Ofte (30–79 %) | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Ofte (30–79 %) | I 1 tilstand |
| PDE6Gphosphodiesterase 6G | Ofte (30–79 %) | I 1 tilstand |
| PITPNM3PITPNM family member 3 | Ofte (30–79 %) | I 1 tilstand |
| POC1BPOC1 centriolar protein B | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| PRCDphotoreceptor disc component | Ofte (30–79 %) | I 1 tilstand |
| PROM1prominin 1 | Ofte (30–79 %) | I 2 tilstande |
| PRPF3pre-mRNA processing factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Ofte (30–79 %) | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Ofte (30–79 %) | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Ofte (30–79 %) | I 1 tilstand |
| PRPH2peripherin 2 | Ofte (30–79 %) | I 3 tilstande |
| RAB28RAB28, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAX2retina and anterior neural fold homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| RBP3retinol binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Ofte (30–79 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Ofte (30–79 %) | I 2 tilstande |
| REEP6receptor accessory protein 6 | Ofte (30–79 %) | I 1 tilstand |
| RGRretinal G protein coupled receptor | Ofte (30–79 %) | I 1 tilstand |
| RHOrhodopsin | Ofte (30–79 %) | I 1 tilstand |
| RIMS1regulating synaptic membrane exocytosis 1 | Ofte (30–79 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-1RNA, U6 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-2RNA, U6 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-8RNA, U6 small nuclear 8 | Ofte (30–79 %) | I 1 tilstand |
| RNU6-9RNA, U6 small nuclear 9 | Ofte (30–79 %) | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Ofte (30–79 %) | I 1 tilstand |
| RP1L1RP1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Ofte (30–79 %) | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Ofte (30–79 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Ofte (30–79 %) | I 2 tilstande |
| RPGRretinitis pigmentosa GTPase regulator | Ofte (30–79 %) | I 2 tilstande |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SAGS-antigen visual arrestin | Ofte (30–79 %) | I 1 tilstand |
| SAXO6stabilizer of axonemal microtubules 6 | Ofte (30–79 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ofte (30–79 %) | I 2 tilstande |
| SLC7A14solute carrier family 7 member 14 | Ofte (30–79 %) | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Ofte (30–79 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Ofte (30–79 %) | I 2 tilstande |
| TLCD3BTLC domain containing 3B | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRIM44TRIM family member 44 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| TTLL5tubulin tyrosine ligase like 5 | Ofte (30–79 %) | I 1 tilstand |
| TUBTUB bipartite transcription factor | Ofte (30–79 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Ofte (30–79 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Ofte (30–79 %) | I 2 tilstande |
| UBAP1Lubiquitin associated protein 1 like | Ofte (30–79 %) | I 1 tilstand |
| UNC119unc-119 lipid binding chaperone | Ofte (30–79 %) | I 1 tilstand |
| USH2Ausherin | Ofte (30–79 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Ofte (30–79 %) | I 1 tilstand |
| VCANversican | Ofte (30–79 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Ofte (30–79 %) | I 1 tilstand |
| ZNF513zinc finger protein 513 | Ofte (30–79 %) | 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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- 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