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Trait
Retina degeneration
Clinical name: Retinal degeneration
A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells.
Summary
- Body system
- Abnormality of the eye
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library(jsonlite)
url <- "https://dantelabs.com/traits/retinal-degeneration.json"
page <- fromJSON(url)
page$trait$nameRetina degenerationHP:0000546
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Log InAskSequence your genome↗
Read the genes linked to Retina degeneration, and the rest of your genome, with one test.
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Get my Genome Test85 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.
- Retinitis PigmentosaReads 74 of these genesARL6NRLPRPF4ABCA4AGBL5AHRAbout this report →
- Epilepsy (Full Panel)Reads 49 of these genesAARS1WWOXACTL6BAP3B2ATP1A2ATP1A3About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 16 of these genesNMNAT1CRB1CRXIMPDH1LRATPRPH2About this report →
- Bardet-Biedl and Alström SyndromesReads 11 of these genesARL6BBS1BBS9LZTFL1BBS2CFAP418About this report →
Show 81 more reports
- Hereditary Macular DystrophiesReads 6 of these genesBEST1PRPH2RLBP1ROM1RP1L1CYP4V2About this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Lysosomal Storage DiseaseReads 11 of these genesCLN3HGSNATIDUACLN5CLN6GNPTABAbout this report →
- Congenital Stationary Night BlindnessReads 6 of these genesPDE6BPRPH2RHORLBP1SAGCABP4About this report →
- VitreoretinopathyReads 7 of these genesNRLBEST1NR2E3ZNF408KCNJ13CTNNB1About this report →
- Neuronal Ceroid LipofuscinosisReads 5 of these genesCLN3CLN5CLN6PPT1TPP1About this report →
- Alport SyndromeReads 2 of these genesCOL4A3COL4A4About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 2 of these genesGNPTABMCOLN1About this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 2 of these genesPRPH2RLBP1About this report →
- Stargardt DiseaseReads 2 of these genesABCA4PROM1About this report →
- Joubert Syndrome And Related DisordersReads 7 of these genesAHI1ARL3CC2D2AOFD1TMEM216TMEM67About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 5 of these genesCEP164NEK8TMEM67ZNF423SDCCAG8About this report →
- Inherited Neurodegenerative DisordersReads 21 of these genesCLN3PNPLA6AHI1CC2D2ATMEM216CPAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- CEP164-Related CiliopathyReads 1 of these genesCEP164About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesReads 1 of these genesCWC27About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- HSD10 Mitochondrial DiseaseReads 1 of these genesHSD17B10About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- IMPG1-Related Dominant RetinopathyReads 1 of these genesIMPG1About this report →
- IMPG1-Related RetinopathyReads 1 of these genesIMPG1About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- NEK8-Related Renal-Hepatic-Pancreatic DysplasiaReads 1 of these genesNEK8About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- PROM1-Related Recessive RetinopathyReads 1 of these genesPROM1About this report →
- RDH12-Related Early-Onset Retinal DystrophyReads 1 of these genesRDH12About this report →
- TUBB4B-Related CiliopathyReads 1 of these genesTUBB4BAbout this report →
- Werner SyndromeReads 1 of these genesWRNAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 7 of these genesAHI1CC2D2ATMEM216TMEM67WWOXMTTPAbout this report →
- Usher SyndromeReads 3 of these genesARSGCLRN1USH2AAbout this report →
- DNA Repair DiseaseReads 5 of these genesERCC2ERCC3GTF2H5ERCC6ERCC8About this report →
- Hereditary HypolipoproteinemiasReads 2 of these genesAPOBMTTPAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesCACNA1ACACNA1BAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 10 of these genesFDXRKLHL7DLATLMNAMMACHCOPA1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 2 of these genesCPPANK2About this report →
- Polycystic Kidney DiseaseReads 2 of these genesIFT140NEK8About this report →
- Hereditary Optic NeuropathyReads 2 of these genesOPA1ATP1A3About this report →
- Familial HypercholesterolemiaReads 1 of these genesAPOBAbout this report →
- Familial Paget Disease of BoneReads 1 of these genesTNFRSF11BAbout this report →
- Hereditary Episodic AtaxiasReads 1 of these genesCACNA1AAbout this report →
- Inherited Iron Metabolism DisordersReads 1 of these genesCPAbout this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesHGSNATAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A2About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesPHYHAbout this report →
- Congenital Disorders of GlycosylationReads 4 of these genesDHDDSPOMGNT1ALG6NUS1About this report →
- Intellectual DisabilityReads 6 of these genesSCAPERCLTCCNKSR2NUS1SYNGAP1CTNNB1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesOTX2ERCC2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesMAN2B1About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesIFT43About this report →
- Congenital Muscular DystrophiesReads 2 of these genesPOMKPOMGNT1About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesPNPLA6ZFYVE26SPG11About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesPOMGNT1LMNAAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesLMNAAARS1SPG11About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesDLATAbout this report →
- Meckel SyndromeReads 1 of these genesTMEM67About this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- HyperlipidemiaReads 1 of these genesAPOBAbout this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMACHCAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX7About this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Leigh SyndromeReads 2 of these genesDLATOPA1About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesMCOLN1About this report →
- Other Inherited LeukodystrophiesReads 2 of these genesAARS1PEX7About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMMACHCAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesKLHL7About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- Syndromic CraniosynostosisReads 1 of these genesIFT43About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesOTX2About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesSPG11About this report →
- Nephrotic SyndromeReads 1 of these genesCOQ8BAbout this report →
- Primary Mitochondrial DiseaseReads 2 of these genesMRPL39OPA1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesATP1A3About this report →
- Dilated CardiomyopathyReads 1 of these genesLMNAAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesOTX2About this report →
Read the genes linked to Retina degeneration, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test225 genes linked to Retina degeneration
Changes in these genes cause rare conditions in which Retina degeneration is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ARL6ARF like GTPase 6 | Always | In 2 conditions |
| ARSGarylsulfatase G | Always | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Always | In 2 conditions |
| BBS9Bardet-Biedl syndrome 9 | Always | In 1 condition |
| CCDC28Bcoiled-coil domain containing 28B | Always | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Always | In 2 conditions |
| FDXRferredoxin reductase | Always | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Always | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Always | In 1 condition |
| NRLneural retina leucine zipper | Always | In 2 conditions |
| PNPLA6patatin like domain 6, lysophospholipase | Always | In 2 conditions |
| POMKprotein O-mannose kinase | Always | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Always | In 2 conditions |
| UBAP1Lubiquitin associated protein 1 like | Always | In 1 condition |
| ABCA4ATP binding cassette subfamily A member 4 | Very often (80–99%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Very often (80–99%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Very often (80–99%) | In 1 condition |
| AHRaryl hydrocarbon receptor | Very often (80–99%) | In 1 condition |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Very often (80–99%) | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Very often (80–99%) | In 1 condition |
| ARL3ARF like GTPase 3 | Very often (80–99%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Very often (80–99%) | In 2 conditions |
| BEST1bestrophin 1 | Very often (80–99%) | In 1 condition |
| CA4carbonic anhydrase 4 | Very often (80–99%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Very often (80–99%) | In 1 condition |
| CDHR1cadherin related family member 1 | Very often (80–99%) | In 1 condition |
| CEP164centrosomal protein 164 | Very often (80–99%) | In 1 condition |
| CERKLCERK like autophagy regulator | Very often (80–99%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Very often (80–99%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Very often (80–99%) | In 1 condition |
| CLRN1clarin 1 | Very often (80–99%) | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Very often (80–99%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Very often (80–99%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Very often (80–99%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Very often (80–99%) | In 1 condition |
| CRXcone-rod homeobox | Very often (80–99%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Very often (80–99%) | In 2 conditions |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Very often (80–99%) | In 2 conditions |
| DHX38DEAH-box helicase 38 | Very often (80–99%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Very often (80–99%) | In 1 condition |
Show 185 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FAM161AFAM161 centrosomal protein A | Very often (80–99%) | In 1 condition |
| FSCN2fascin actin-bundling protein 2, retinal | Very often (80–99%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Very often (80–99%) | In 1 condition |
| GUCA1Bguanylate cyclase activator 1B | Very often (80–99%) | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Very often (80–99%) | In 1 condition |
| HKDC1hexokinase domain containing 1 | Very often (80–99%) | In 1 condition |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Very often (80–99%) | In 1 condition |
| IFT140intraflagellar transport 140 | Very often (80–99%) | In 1 condition |
| IFT172intraflagellar transport 172 | Very often (80–99%) | In 2 conditions |
| IFT43intraflagellar transport 43 | Very often (80–99%) | In 1 condition |
| IFT88intraflagellar transport 88 | Very often (80–99%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Very often (80–99%) | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Very often (80–99%) | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KIAA1549KIAA1549 | Very often (80–99%) | In 1 condition |
| KIZkizuna centrosomal protein | Very often (80–99%) | In 1 condition |
| KLHL7kelch like family member 7 | Very often (80–99%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Very often (80–99%) | In 2 conditions |
| MAKmale germ cell associated kinase | Very often (80–99%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Very often (80–99%) | In 1 condition |
| NEK2NIMA related kinase 2 | Very often (80–99%) | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Very often (80–99%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Very often (80–99%) | In 1 condition |
| PCAREphotoreceptor cilium actin regulator | Very often (80–99%) | In 1 condition |
| PDE6Aphosphodiesterase 6A | Very often (80–99%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Very often (80–99%) | In 1 condition |
| PDE6Gphosphodiesterase 6G | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 2 conditions |
| PRCDphotoreceptor disc component | Very often (80–99%) | In 1 condition |
| PROM1prominin 1 | Very often (80–99%) | In 1 condition |
| PRPF3pre-mRNA processing factor 3 | Very often (80–99%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Very often (80–99%) | In 1 condition |
| PRPF6pre-mRNA processing factor 6 | Very often (80–99%) | In 1 condition |
| PRPF8pre-mRNA processing factor 8 | Very often (80–99%) | In 2 conditions |
| PRPH2peripherin 2 | Very often (80–99%) | In 2 conditions |
| RBP3retinol binding protein 3 | Very often (80–99%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Very often (80–99%) | In 1 condition |
| REEP6receptor accessory protein 6 | Very often (80–99%) | In 1 condition |
| RGRretinal G protein coupled receptor | Very often (80–99%) | In 1 condition |
| RHOrhodopsin | Very often (80–99%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Very often (80–99%) | In 2 conditions |
| RNU4-2RNA, U4 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-1RNA, U6 small nuclear 1 | Very often (80–99%) | In 1 condition |
| RNU6-2RNA, U6 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-8RNA, U6 small nuclear 8 | Very often (80–99%) | In 1 condition |
| RNU6-9RNA, U6 small nuclear 9 | Very often (80–99%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Very often (80–99%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Very often (80–99%) | In 1 condition |
| RP1L1RP1 like 1 | Very often (80–99%) | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Very often (80–99%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Very often (80–99%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Very often (80–99%) | In 2 conditions |
| RPGRretinitis pigmentosa GTPase regulator | Very often (80–99%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Very often (80–99%) | In 1 condition |
| SAGS-antigen visual arrestin | Very often (80–99%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Very often (80–99%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Very often (80–99%) | In 1 condition |
| SEMA4Asemaphorin 4A | Very often (80–99%) | In 1 condition |
| SLC7A14solute carrier family 7 member 14 | Very often (80–99%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Very often (80–99%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Very often (80–99%) | In 2 conditions |
| TMEM216transmembrane protein 216 | Very often (80–99%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Very often (80–99%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Very often (80–99%) | In 1 condition |
| TUBTUB bipartite transcription factor | Very often (80–99%) | In 1 condition |
| TULP1TUB like protein 1 | Very often (80–99%) | In 2 conditions |
| USH2Ausherin | Very often (80–99%) | In 1 condition |
| WRNWRN RecQ like helicase | Very often (80–99%) | In 1 condition |
| ZNF408zinc finger protein 408 | Very often (80–99%) | In 1 condition |
| ZNF513zinc finger protein 513 | Very often (80–99%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Often (30–79%) | In 1 condition |
| CABP4calcium binding protein 4 | Often (30–79%) | In 1 condition |
| CPceruloplasmin | Often (30–79%) | In 2 conditions |
| DLATdihydrolipoamide S-acetyltransferase | Often (30–79%) | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Often (30–79%) | In 1 condition |
| LCA5lebercilin LCA5 | Often (30–79%) | In 1 condition |
| LMNAlamin A/C | Often (30–79%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Often (30–79%) | In 1 condition |
| MRPL39mitochondrial ribosomal protein L39 | Often (30–79%) | In 1 condition |
| NEK8NIMA related kinase 8 | Often (30–79%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 1 condition |
| ZFYVE26zinc finger FYVE-type containing 26 | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 2 conditions |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| GNB5G protein subunit beta 5 | Sometimes (5–29%) | In 2 conditions |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sometimes (5–29%) | In 2 conditions |
| IDUAalpha-L-iduronidase | Sometimes (5–29%) | In 2 conditions |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sometimes (5–29%) | In 2 conditions |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 2 conditions |
| TNFRSF11BTNF receptor superfamily member 11b | Sometimes (5–29%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Sometimes (5–29%) | In 2 conditions |
| ZNF423zinc finger protein 423 | Sometimes (5–29%) | In 1 condition |
| ACTL6Bactin like 6B | Rarely (1–4%) | In 1 condition |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Rarely (1–4%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Rarely (1–4%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Rarely (1–4%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Rarely (1–4%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Rarely (1–4%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Rarely (1–4%) | In 1 condition |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Rarely (1–4%) | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Rarely (1–4%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Rarely (1–4%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Rarely (1–4%) | In 1 condition |
| CLTCclathrin heavy chain | Rarely (1–4%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Rarely (1–4%) | In 1 condition |
| COL4A3collagen type IV alpha 3 chain | Rarely (1–4%) | In 1 condition |
| COL4A4collagen type IV alpha 4 chain | Rarely (1–4%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Rarely (1–4%) | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Rarely (1–4%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Rarely (1–4%) | In 1 condition |
| DNM1dynamin 1 | Rarely (1–4%) | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Rarely (1–4%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Rarely (1–4%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Rarely (1–4%) | In 1 condition |
| FBXO28F-box protein 28 | Rarely (1–4%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Rarely (1–4%) | In 1 condition |
| FOXG1forkhead box G1 | Rarely (1–4%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Rarely (1–4%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Rarely (1–4%) | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Rarely (1–4%) | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Rarely (1–4%) | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Rarely (1–4%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Rarely (1–4%) | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Rarely (1–4%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Rarely (1–4%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Rarely (1–4%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Rarely (1–4%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Rarely (1–4%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Rarely (1–4%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Rarely (1–4%) | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Rarely (1–4%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Rarely (1–4%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Rarely (1–4%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Rarely (1–4%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Rarely (1–4%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rarely (1–4%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Rarely (1–4%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Rarely (1–4%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Rarely (1–4%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Rarely (1–4%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Rarely (1–4%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rarely (1–4%) | In 1 condition |
| SYNJ1synaptojanin 1 | Rarely (1–4%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Rarely (1–4%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Rarely (1–4%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Rarely (1–4%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Rarely (1–4%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Rarely (1–4%) | In 1 condition |
| APOBapolipoprotein B | Not recorded | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Not recorded | In 1 condition |
| C1QTNF5C1q and TNF related 5 | Not recorded | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Not recorded | In 1 condition |
| CLCC1chloride channel CLIC like 1 | Not recorded | In 1 condition |
| CLN5CLN5 lysosomal BMP synthase | Not recorded | In 1 condition |
| CLN6CLN6 transmembrane ER protein | Not recorded | In 1 condition |
| CTNNB1catenin beta 1 | Not recorded | In 1 condition |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Not recorded | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Not recorded | In 1 condition |
| MAB21L1mab-21 like 1 | Not recorded | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Not recorded | In 1 condition |
| MCOLN1mucolipin TRP cation channel 1 | Not recorded | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Not recorded | In 1 condition |
| PANK2pantothenate kinase 2 | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Not recorded | In 1 condition |
| PISDphosphatidylserine decarboxylase | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| RS1retinoschisin 1 | Not recorded | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Not recorded | In 2 conditions |
| SLC19A2solute carrier family 19 member 2 | Not recorded | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Not recorded | In 1 condition |
| TPP1tripeptidyl peptidase 1 | Not recorded | In 1 condition |
| TUBB4Btubulin beta 4B class IVb | Not recorded | In 1 condition |
| USP45ubiquitin specific peptidase 45 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.19-9814e911.
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