{ "url": "https://dantelabs.com/pl/genes/kcne1", "gene": { "slug": "kcne1", "symbol": "KCNE1", "name": "potassium voltage-gated channel subfamily E regulatory subunit 1", "hgnc": "HGNC:6240", "summary": null, "location": "21q22.12", "locusType": "gene with protein product", "aliases": [ "minK", "IsK", "JLNS2", "LQT5" ], "previousSymbols": [], "ensemblId": "ENSG00000180509", "entrezId": 3753, "omim": [ "176261" ], "uniprot": [ "P15382" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "21", "start": 34446690, "end": 34512210, "strand": "-", "ensemblTranscript": "ENST00000399286.3", "refseqTranscript": "NM_000219.6", "ensemblProtein": "ENSP00000382226.2", "refseqProtein": "NP_000210.2", "exons": [ { "start": 34446690, "end": 34449684 }, { "start": 34458654, "end": 34458764 }, { "start": 34511101, "end": 34511315 }, { "start": 34512027, "end": 34512210 } ], "cds": { "start": 34449245, "end": 34449634 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "21", "start": 35818988, "end": 35884573, "strand": "-" }, "neighbourhood": { "release": "116", "start": 33979450, "end": 34979449, "genes": [ { "symbol": "MRPS6", "ensemblId": "ENSG00000243927", "biotype": "protein_coding", "start": 34072889, "end": 34362252, "strand": "+", "slug": "mrps6" }, { "symbol": "SLC5A3", "ensemblId": "ENSG00000198743", "biotype": "protein_coding", "start": 34073509, "end": 34106260, "strand": "+", "slug": "slc5a3" }, { "symbol": "", "ensemblId": "ENSG00000293606", "biotype": "protein_coding", "start": 34073509, "end": 34143037, "strand": "+" }, { "symbol": "KCNE2", "ensemblId": "ENSG00000159197", "biotype": "protein_coding", "start": 34180729, "end": 34371390, "strand": "+", "slug": "kcne2" }, { "symbol": "SMIM11", "ensemblId": "ENSG00000205670", "biotype": "protein_coding", "start": 34375107, "end": 34416961, "strand": "+", "slug": "smim11" }, { "symbol": "C21orf140", "ensemblId": "ENSG00000222018", "biotype": "protein_coding", "start": 34400112, "end": 34401072, "strand": "-", "slug": "c21orf140" }, { "symbol": "SMIM34", "ensemblId": "ENSG00000243627", "biotype": "protein_coding", "start": 34414494, "end": 34423951, "strand": "-", "slug": "smim34" }, { "symbol": "", "ensemblId": "ENSG00000288711", "biotype": "protein_coding", "start": 34511122, "end": 34614913, "strand": "-" }, { "symbol": "RCAN1", "ensemblId": "ENSG00000159200", "biotype": "protein_coding", "start": 34513142, "end": 34615323, "strand": "-", "slug": "rcan1" }, { "symbol": "CLIC6", "ensemblId": "ENSG00000159212", "biotype": "protein_coding", "start": 34668966, "end": 34718227, "strand": "+", "slug": "clic6" }, { "symbol": "RUNX1", "ensemblId": "ENSG00000159216", "biotype": "protein_coding", "start": 34787801, "end": 36004667, "strand": "-", "slug": "runx1" } ], "truncated": false }, "reports": [ { "slug": "long-qt-syndrome", "name": "Zespół długiego QT", "diseases": [ { "mondoId": "MONDO:0002442", "name": "Zespół długiego QT", "genes": 10, "inheritance": null, "description": "Zaburzenie repolaryzacji serca, które charakteryzuje się wydłużonym odstępem QT i ryzykiem groźnych zaburzeń rytmu komór, takich jak torsade de pointes.", "management": "Beta-blokery, wszczepienie ICD, ograniczenie aktywności fizycznej, poradnictwo genetyczne", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/long-qt-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "congenital-sensorineural-hearing-impairment", "name": "Congenital sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "premature-ventricular-contraction", "name": "Extra heart beat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/premature-ventricular-contraction" }, { "slug": "syncope", "name": "Fainting spell", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/syncope" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "myocardial-infarction", "name": "Heart attack", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myocardial-infarction" }, { "slug": "iron-deficiency-anemia", "name": "Iron deficiency anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iron-deficiency-anemia" }, { "slug": "loss-of-consciousness", "name": "Loss of consciousness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-consciousness" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "postexertional-symptom-exacerbation", "name": "Postexertional symptom exacerbation", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postexertional-symptom-exacerbation" }, { "slug": "profound-sensorineural-hearing-impairment", "name": "Profound sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/profound-sensorineural-hearing-impairment" }, { "slug": "prolonged-qt-interval", "name": "Prolonged QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-qt-interval" }, { "slug": "prolonged-qtc-interval", "name": "Prolonged QTc interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/prolonged-qtc-interval" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "sinus-bradycardia", "name": "Sinus bradycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sinus-bradycardia" }, { "slug": "sudden-cardiac-death", "name": "Sudden cardiac death", "systems": [ "abnormality-of-the-cardiovascular-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/sudden-cardiac-death" }, { "slug": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolic-stroke" }, { "slug": "thromboembolism", "name": "Thromboembolism", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolism" }, { "slug": "torsade-de-pointes", "name": "Torsade de pointes", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/torsade-de-pointes" }, { "slug": "ventricular-fibrillation", "name": "Ventricular fibrillation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-fibrillation" } ], "related": [ { "slug": "cacna1c", "symbol": "CACNA1C", "name": "calcium voltage-gated channel subunit alpha1 C", "shared": 1, "url": "https://dantelabs.com/pl/genes/cacna1c" }, { "slug": "calm1", "symbol": "CALM1", "name": "calmodulin 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/calm1" }, { "slug": "calm2", "symbol": "CALM2", "name": "calmodulin 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/calm2" }, { "slug": "calm3", "symbol": "CALM3", "name": "calmodulin 3", "shared": 1, "url": "https://dantelabs.com/pl/genes/calm3" }, { "slug": "kcnh2", "symbol": "KCNH2", "name": "potassium voltage-gated channel subfamily H member 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/kcnh2" }, { "slug": "kcnj2", "symbol": "KCNJ2", "name": "potassium inwardly rectifying channel subfamily J member 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/kcnj2" }, { "slug": "kcnq1", "symbol": "KCNQ1", "name": "potassium voltage-gated channel subfamily Q member 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/kcnq1" }, { "slug": "scn5a", "symbol": "SCN5A", "name": "sodium voltage-gated channel alpha subunit 5", "shared": 1, "url": "https://dantelabs.com/pl/genes/scn5a" }, { "slug": "trdn", "symbol": "TRDN", "name": "triadin", "shared": 1, "url": "https://dantelabs.com/pl/genes/trdn" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }