{ "url": "https://dantelabs.com/da/genes/kcnq4", "gene": { "slug": "kcnq4", "symbol": "KCNQ4", "name": "potassium voltage-gated channel subfamily Q member 4", "hgnc": "HGNC:6298", "summary": null, "location": "1p34.2", "locusType": "gene with protein product", "aliases": [ "Kv7.4" ], "previousSymbols": [ "DFNA2" ], "ensemblId": "ENSG00000117013", "entrezId": 9132, "omim": [ "603537" ], "uniprot": [ "P56696" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 40783787, "end": 40840452, "strand": "+", "ensemblTranscript": "ENST00000347132.10", "refseqTranscript": "NM_004700.4", "ensemblProtein": "ENSP00000262916.6", "refseqProtein": "NP_004691.2", "exons": [ { "start": 40783787, "end": 40784407 }, { "start": 40817265, "end": 40817355 }, { "start": 40818164, "end": 40818290 }, { "start": 40818505, "end": 40818680 }, { "start": 40819347, "end": 40819472 }, { "start": 40819875, "end": 40819985 }, { "start": 40820165, "end": 40820260 }, { "start": 40822314, "end": 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"ENSG00000187815", "biotype": "protein_coding", "start": 40477233, "end": 40497331, "strand": "+", "slug": "zfp69" }, { "symbol": "EXO5", "ensemblId": "ENSG00000164002", "biotype": "protein_coding", "start": 40508441, "end": 40518869, "strand": "+", "slug": "exo5" }, { "symbol": "ZNF684", "ensemblId": "ENSG00000117010", "biotype": "protein_coding", "start": 40531557, "end": 40593265, "strand": "+", "slug": "znf684" }, { "symbol": "RIMS3", "ensemblId": "ENSG00000117016", "biotype": "protein_coding", "start": 40620679, "end": 40665728, "strand": "-", "slug": "rims3" }, { "symbol": "NFYC", "ensemblId": "ENSG00000066136", "biotype": "protein_coding", "start": 40691570, "end": 40771606, "strand": "+", "slug": "nfyc" }, { "symbol": "CITED4", "ensemblId": "ENSG00000179862", "biotype": "protein_coding", "start": 40861054, "end": 40862363, "strand": "-", "slug": "cited4" }, { "symbol": "CTPS1", "ensemblId": "ENSG00000171793", "biotype": "protein_coding", "start": 40979300, "end": 41056384, "strand": "+", "slug": "ctps1" }, { "symbol": "SLFNL1", "ensemblId": "ENSG00000171790", "biotype": "protein_coding", "start": 41015589, "end": 41024551, "strand": "-", "slug": "slfnl1" }, { "symbol": "SCMH1", "ensemblId": "ENSG00000010803", "biotype": "protein_coding", "start": 41025400, "end": 41242324, "strand": "-", "slug": "scmh1" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Høretab og døvhed", "diseases": [ { "mondoId": "MONDO:0019587", "name": "Autosomalt dominant ikke-syndromalt høretab", "genes": 39, "inheritance": "autosomal-dominant", "description": "Autosomalt dominant form for ikke-syndromal døvhed.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Ikke-syndromal genetisk høretab", "genes": 97, "inheritance": null, "description": "Arvelig høretab uden andre medicinske træk, herunder de hyppige recessive former forårsaget af GJB2, OTOF, SLC26A4, STRC og mange andre gener, samt dominante, X-bundne og mitokondrielle former.", "management": "Viden om den genetiske årsag kan vejlede valget af høreapparat og cochleaimplantat, berettigelse til genterapiforsøg (for eksempel OTOF) og familierådgivning.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "tinnitus", "name": "Ringing in ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/tinnitus" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/da/genes/actg1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/da/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/da/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": "https://dantelabs.com/da/genes/cd164" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 2, "url": "https://dantelabs.com/da/genes/ceacam16" }, { "slug": "coch", "symbol": "COCH", "name": "cochlin", "shared": 2, "url": "https://dantelabs.com/da/genes/coch" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 2, "url": "https://dantelabs.com/da/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "name": "collagen type XI alpha 2 chain", "shared": 2, "url": "https://dantelabs.com/da/genes/col11a2" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 2, "url": "https://dantelabs.com/da/genes/diaph1" }, { "slug": "eya4", "symbol": "EYA4", "name": "EYA transcriptional coactivator and phosphatase 4", "shared": 2, "url": "https://dantelabs.com/da/genes/eya4" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 2, "url": "https://dantelabs.com/da/genes/gjb2" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 2, "url": "https://dantelabs.com/da/genes/gjb6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 3, "url": "https://dantelabs.com/genes/kcnq4/variants", "items": [ { "slug": "g285s", "name": "G285S", "commonName": null, "symbol": "KCNQ4", "classification": "pathogenic", "stars": 3, "hgvsC": "c.853G>A", "position": 40819893, "grch37Position": 41285565, "part": { "kind": "exon", "number": 6 }, "url": "https://dantelabs.com/genes/kcnq4/variants/g285s" }, { "slug": "s269del", "name": "S269del", "commonName": null, "symbol": "KCNQ4", "classification": "pathogenic", "stars": 3, "hgvsC": "c.806_808del", "position": 40819438, "grch37Position": 41285110, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/kcnq4/variants/s269del" }, { "slug": "w275c", "name": "W275C", "commonName": null, "symbol": "KCNQ4", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.825G>C", "position": 40819463, "grch37Position": 41285135, "part": { "kind": "exon", "number": 5 }, "url": "https://dantelabs.com/genes/kcnq4/variants/w275c" } ] } }