{ "url": "https://dantelabs.com/hu/genes/chrne", "gene": { "slug": "chrne", "symbol": "CHRNE", "name": "cholinergic receptor nicotinic epsilon subunit", "hgnc": "HGNC:1966", "summary": null, "location": "17p13.2", "locusType": "gene with protein product", "aliases": [ "ACHRE" ], "previousSymbols": [], "ensemblId": "ENSG00000108556", "entrezId": 1145, "omim": [ "100725" ], "uniprot": [ "Q04844" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 4897771, "end": 4903098, "strand": "-", "ensemblTranscript": "ENST00000649488.2", "refseqTranscript": "NM_000080.4", "ensemblProtein": "ENSP00000497829.1", "refseqProtein": "NP_000071.1", "exons": [ { "start": 4897771, "end": 4898891 }, { "start": 4899001, "end": 4899107 }, { "start": 4899198, "end": 4899384 }, { "start": 4899468, "end": 4899582 }, { "start": 4900793, "end": 4900907 }, { "start": 4900990, "end": 4901190 }, { "start": 4901525, "end": 4901625 }, { "start": 4901932, "end": 4902087 }, { "start": 4902217, 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"strand": "+", "slug": "eno3" }, { "symbol": "SPAG7", "ensemblId": "ENSG00000091640", "biotype": "protein_coding", "start": 4959226, "end": 4967835, "strand": "-", "slug": "spag7" }, { "symbol": "CAMTA2", "ensemblId": "ENSG00000108509", "biotype": "protein_coding", "start": 4967992, "end": 4987684, "strand": "-", "slug": "camta2" }, { "symbol": "INCA1", "ensemblId": "ENSG00000196388", "biotype": "protein_coding", "start": 4988130, "end": 4999117, "strand": "-", "slug": "inca1" }, { "symbol": "KIF1C", "ensemblId": "ENSG00000129250", "biotype": "protein_coding", "start": 4997629, "end": 5028401, "strand": "+", "slug": "kif1c" }, { "symbol": "SLC52A1", "ensemblId": "ENSG00000132517", "biotype": "protein_coding", "start": 5032600, "end": 5052009, "strand": "-", "slug": "slc52a1" }, { "symbol": "ZFP3", "ensemblId": "ENSG00000180787", "biotype": "protein_coding", "start": 5078241, "end": 5096376, "strand": "+", "slug": "zfp3" }, { "symbol": "ZNF232", "ensemblId": "ENSG00000167840", "biotype": "protein_coding", "start": 5105269, "end": 5123162, "strand": "-", "slug": "znf232" }, { "symbol": "USP6", "ensemblId": "ENSG00000129204", "biotype": "protein_coding", "start": 5116032, "end": 5175034, "strand": "+", "slug": "usp6" }, { "symbol": "ZNF594", "ensemblId": "ENSG00000180626", "biotype": "protein_coding", "start": 5174019, "end": 5191907, "strand": "-", "slug": "znf594" }, { "symbol": "SCIMP", "ensemblId": "ENSG00000161929", "biotype": "protein_coding", "start": 5208915, "end": 5234869, "strand": "-", "slug": "scimp" }, { "symbol": "RABEP1", "ensemblId": "ENSG00000029725", "biotype": "protein_coding", "start": 5282258, "end": 5386871, "strand": "+", "slug": "rabep1" }, { "symbol": "NUP88", "ensemblId": "ENSG00000108559", "biotype": "protein_coding", "start": 5359641, "end": 5420164, "strand": "-", "slug": "nup88" } ], "truncated": false }, "reports": [ { "slug": "congenital-myasthenic-syndrome", "name": "Congenital Myasthenic Syndrome", "diseases": [ { "mondoId": "MONDO:1040021", "name": "Congenital Myasthenic Syndrome 4", "genes": 1, "inheritance": "autosomal-recessive", "description": "Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Natera" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018940", "name": "Congenital Myasthenic Syndrome (All Types)", "genes": 27, "inheritance": null, "description": "Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.", "management": "Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.", "evidence": { "gencc": [ "Genomics England PanelApp", "Illumina", "Labcorp Genetics (formerly Invitae)", "Natera" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/congenital-myasthenic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "apneic-episodes-precipitated-by-illness-fatigue-stress", "name": "Apneic episodes precipitated by illness, fatigue, stress", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/apneic-episodes-precipitated-by-illness-fatigue-stress" }, { "slug": "arthrogryposis-multiplex-congenita", "name": "Arthrogryposis multiplex congenita", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita" }, { "slug": "dental-malocclusion", "name": "Bad bite", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/dental-malocclusion" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "bulbar-palsy", "name": "Bulbar palsy", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/bulbar-palsy" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "respiratory-insufficiency-due-to-muscle-weakness", "name": "Decreased lung function due to weak breathing muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "decreased-miniature-endplate-potentials", "name": "Decreased miniature endplate potentials", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/decreased-miniature-endplate-potentials" }, { "slug": "decreased-muscle-mass", "name": "Decreased muscle mass", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/decreased-muscle-mass" }, { "slug": "decreased-size-of-nerve-terminals", "name": "Decreased size of nerve terminals", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/decreased-size-of-nerve-terminals" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation", "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "fatigable-weakness", "name": "Fatigable weakness", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigable-weakness" }, { "slug": "fatigable-weakness-of-skeletal-muscles", "name": "Fatigable weakness of skeletal muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigable-weakness-of-skeletal-muscles" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "generalized-hypotonia-due-to-defect-at-the-neuromuscular-junction", "name": "Generalized hypotonia due to defect at the neuromuscular junction", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia-due-to-defect-at-the-neuromuscular-junction" }, { "slug": "gowers-sign", "name": "Gowers sign", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/gowers-sign" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "limb-muscle-weakness", "name": "Limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limb-muscle-weakness" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/long-face" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "neck-muscle-weakness", "name": "Neck muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/neck-muscle-weakness" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "sudden-episodic-apnea", "name": "Sudden episodic apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/sudden-episodic-apnea" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/easy-fatigability" }, { "slug": "type-2-muscle-fiber-atrophy", "name": "Type 2 muscle fiber atrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/type-2-muscle-fiber-atrophy" }, { "slug": "weak-cry", "name": "Weak cry", "systems": [ "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/weak-cry" }, { "slug": "weakness-of-facial-musculature", "name": "Weakness of facial musculature", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/weakness-of-facial-musculature" }, { "slug": "ophthalmoparesis", "name": "Weakness of muscles controlling eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ophthalmoparesis" } ], "related": [ { "slug": "agrn", "symbol": "AGRN", "name": "agrin", "shared": 1, "url": "https://dantelabs.com/hu/genes/agrn" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/hu/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/hu/genes/alg2" }, { "slug": "chat", "symbol": "CHAT", "name": "choline O-acetyltransferase", "shared": 1, "url": "https://dantelabs.com/hu/genes/chat" }, { "slug": "chrna1", "symbol": "CHRNA1", "name": "cholinergic receptor nicotinic alpha 1 subunit", "shared": 1, "url": "https://dantelabs.com/hu/genes/chrna1" }, { "slug": "chrnb1", "symbol": "CHRNB1", "name": "cholinergic receptor nicotinic beta 1 subunit", "shared": 1, "url": "https://dantelabs.com/hu/genes/chrnb1" }, { "slug": "chrnd", "symbol": "CHRND", "name": "cholinergic receptor nicotinic delta subunit", "shared": 1, "url": "https://dantelabs.com/hu/genes/chrnd" }, { "slug": "col13a1", "symbol": "COL13A1", "name": "collagen type XIII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/hu/genes/col13a1" }, { "slug": "colq", "symbol": "COLQ", "name": "collagen like tail subunit of asymmetric acetylcholinesterase", "shared": 1, "url": "https://dantelabs.com/hu/genes/colq" }, { "slug": "dok7", "symbol": "DOK7", "name": "docking protein 7", "shared": 1, "url": "https://dantelabs.com/hu/genes/dok7" }, { "slug": "dpagt1", "symbol": "DPAGT1", "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/dpagt1" }, { "slug": "gfpt1", "symbol": "GFPT1", "name": "glutamine--fructose-6-phosphate transaminase 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/gfpt1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }