{ "url": "https://dantelabs.com/de/genes/kcnc1", "gene": { "slug": "kcnc1", "symbol": "KCNC1", "name": "potassium voltage-gated channel subfamily C member 1", "hgnc": "HGNC:6233", "summary": null, "location": "11p15.1", "locusType": "gene with protein product", "aliases": [ "Kv3.1" ], "previousSymbols": [], "ensemblId": "ENSG00000129159", "entrezId": 3746, "omim": [ "176258" ], "uniprot": [ "P48547" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 17734781, "end": 17783057, "strand": "+", "ensemblTranscript": "ENST00000265969.8", "refseqTranscript": "NM_001112741.2", "ensemblProtein": "ENSP00000265969.7", "refseqProtein": "NP_001106212.1", "exons": [ { "start": 17734781, "end": 17736572 }, { "start": 17771665, "end": 17772598 }, { "start": 17779456, "end": 17779644 }, { "start": 17781670, "end": 17783057 } ], "cds": { "start": 17736003, "end": 17781734 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 17756359, "end": 17804602, "strand": "+" }, "neighbourhood": { "release": "116", "start": 17258919, "end": 18258918, "genes": [ { "symbol": "NUCB2", "ensemblId": "ENSG00000070081", "biotype": "protein_coding", "start": 17208072, "end": 17349980, "strand": "+", "slug": "nucb2" }, { "symbol": "NCR3LG1", "ensemblId": "ENSG00000188211", "biotype": "protein_coding", "start": 17351677, "end": 17377341, "strand": "+", "slug": "ncr3lg1" }, { "symbol": "KCNJ11", "ensemblId": "ENSG00000187486", "biotype": "protein_coding", "start": 17364082, "end": 17389364, "strand": "-", "slug": "kcnj11" }, { "symbol": "ABCC8", "ensemblId": "ENSG00000006071", "biotype": "protein_coding", "start": 17392498, "end": 17476894, "strand": "-", "slug": "abcc8" }, { "symbol": "USH1C", "ensemblId": "ENSG00000006611", "biotype": "protein_coding", "start": 17493895, "end": 17544435, "strand": "-", "slug": "ush1c" }, { "symbol": "OTOG", "ensemblId": "ENSG00000188162", "biotype": "protein_coding", "start": 17547259, "end": 17647150, "strand": "+", "slug": "otog" }, { "symbol": "MYOD1", "ensemblId": "ENSG00000129152", "biotype": "protein_coding", "start": 17719565, "end": 17722136, "strand": "+", "slug": "myod1" }, { "symbol": "SERGEF", "ensemblId": "ENSG00000129158", "biotype": "protein_coding", "start": 17788043, "end": 18013199, "strand": "-", "slug": "sergef" }, { "symbol": "TPH1", "ensemblId": "ENSG00000129167", "biotype": "protein_coding", "start": 18017555, "end": 18046269, "strand": "-", "slug": "tph1" }, { "symbol": "SAAL1", "ensemblId": "ENSG00000166788", "biotype": "protein_coding", "start": 18069935, "end": 18106108, "strand": "-", "slug": "saal1" }, { "symbol": "MRGPRX3", "ensemblId": "ENSG00000179826", "biotype": "protein_coding", "start": 18120955, "end": 18138488, "strand": "+", "slug": "mrgprx3" }, { "symbol": "MRGPRX4", "ensemblId": "ENSG00000179817", "biotype": "protein_coding", "start": 18172837, "end": 18174280, "strand": "+", "slug": "mrgprx4" }, { "symbol": "SAA4", "ensemblId": "ENSG00000148965", "biotype": "protein_coding", "start": 18229731, "end": 18236860, "strand": "-", "slug": "saa4" }, { "symbol": "SAA2-SAA4", "ensemblId": "ENSG00000255071", "biotype": "protein_coding", "start": 18231423, "end": 18248635, "strand": "-", "slug": "saa2-saa4" }, { "symbol": "SAA2", "ensemblId": "ENSG00000134339", "biotype": "protein_coding", "start": 18238236, "end": 18248668, "strand": "-", "slug": "saa2" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsie (Komplettpanel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsie", "genes": 171, "inheritance": null, "description": "Eine Erkrankung des Gehirns, die durch Episoden abnorm gesteigerter neuronaler Entladungen gekennzeichnet ist. Diese führen zu vorübergehenden sensorischen, motorischen oder psychischen Funktionsstörungen und können mit oder ohne Bewusstseinsverlust oder Krämpfe auftreten.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "eeg-with-generalized-epileptiform-discharges", "name": "EEG with generalized epileptiform discharges", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/eeg-with-generalized-epileptiform-discharges" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tremor" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/de/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/de/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/de/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/de/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/de/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/de/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/de/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/de/genes/arv1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/de/genes/arx" }, { "slug": "atp1a2", "symbol": "ATP1A2", "name": "ATPase Na+/K+ transporting subunit alpha 2", "shared": 1, "url": "https://dantelabs.com/de/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/de/genes/atp1a3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }