{ "url": "https://dantelabs.com/sv/genes/ano3", "gene": { "slug": "ano3", "symbol": "ANO3", "name": "anoctamin 3", "hgnc": "HGNC:14004", "summary": null, "location": "11p14.2", "locusType": "gene with protein product", "aliases": [ "GENX-3947", "DYT23" ], "previousSymbols": [ "C11orf25", "TMEM16C" ], "ensemblId": "ENSG00000134343", "entrezId": 63982, "omim": [ "610110" ], "uniprot": [ "Q9BYT9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 26332130, "end": 26663289, "strand": "+", "ensemblTranscript": "ENST00000256737.8", "refseqTranscript": "NM_031418.4", "ensemblProtein": "ENSP00000256737.3", "refseqProtein": "NP_113606.2", "exons": [ { "start": 26332130, "end": 26332321 }, { "start": 26441918, "end": 26442112 }, { "start": 26443765, "end": 26443836 }, { "start": 26463030, "end": 26463148 }, { "start": 26508104, "end": 26508262 }, { "start": 26516827, "end": 26516927 }, { "start": 26525635, "end": 26525679 }, { "start": 26531205, "end": 26531336 }, { 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"genes": [ { "symbol": "MUC15", "ensemblId": "ENSG00000169550", "biotype": "protein_coding", "start": 26559031, "end": 26572263, "strand": "-", "slug": "muc15" }, { "symbol": "SLC5A12", "ensemblId": "ENSG00000148942", "biotype": "protein_coding", "start": 26667020, "end": 26723427, "strand": "-", "slug": "slc5a12" }, { "symbol": "FIBIN", "ensemblId": "ENSG00000176971", "biotype": "protein_coding", "start": 26994112, "end": 26997087, "strand": "+", "slug": "fibin" } ], "truncated": false }, "reports": [ { "slug": "dystonia-myotonia-paroxysmal-dyskinesia", "name": "Dystoni, myotoni, paroxysmal dyskinesi", "diseases": [ { "mondoId": "MONDO:0014019", "name": "Dystoni 24", "genes": 1, "inheritance": "autosomal-dominant", "description": "Varje dystonisk sjukdom där sjukdomens orsak är en mutation i genen ANO3.", "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0044807", "name": "Ärftlig dystoni", "genes": 34, "inheritance": null, "description": "Samlingsbegrepp för ärftliga dystonier, inklusive DYT-TOR1A, generaliserad dystoni med tidig debut, DYT-THAP1, myoklonus-dystoni (SGCE) och KMT2B-relaterad dystoni.", "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/dystonia-myotonia-paroxysmal-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-the-larynx", "name": "Abnormality of the larynx", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-larynx" }, { "slug": "arm-dystonia", "name": "Arm dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arm-dystonia" }, { "slug": "blepharospasm", "name": "Eyelid spasm", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blepharospasm" }, { "slug": "hand-tremor", "name": "Hand tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hand-tremor" }, { "slug": "head-tremor", "name": "Head tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/head-tremor" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "limb-dystonia", "name": "Limb dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-dystonia" }, { "slug": "limb-tremor", "name": "Limb tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limb-tremor" }, { "slug": "oromandibular-dystonia", "name": "Oromandibular dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oromandibular-dystonia" }, { "slug": "upper-limb-postural-tremor", "name": "Upper limb postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upper-limb-postural-tremor" }, { "slug": "vocal-tremor", "name": "Vocal tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vocal-tremor" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/sv/genes/actb" }, { "slug": "arfgef3", "symbol": "ARFGEF3", "name": "ARFGEF family member 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/arfgef3" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/atp1a3" }, { "slug": "bcap31", "symbol": "BCAP31", "name": "B cell receptor associated protein 31", "shared": 1, "url": "https://dantelabs.com/sv/genes/bcap31" }, { "slug": "col6a3", "symbol": "COL6A3", "name": "collagen type VI alpha 3 chain", "shared": 1, "url": "https://dantelabs.com/sv/genes/col6a3" }, { "slug": "dcaf17", "symbol": "DCAF17", "name": "DDB1 and CUL4 associated factor 17", "shared": 1, "url": "https://dantelabs.com/sv/genes/dcaf17" }, { "slug": "gch1", "symbol": "GCH1", "name": "GTP cyclohydrolase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/gch1" }, { "slug": "gnal", "symbol": "GNAL", "name": "G protein subunit alpha L", "shared": 1, "url": "https://dantelabs.com/sv/genes/gnal" }, { "slug": "hpca", "symbol": "HPCA", "name": "hippocalcin", "shared": 1, "url": "https://dantelabs.com/sv/genes/hpca" }, { "slug": "kcnj10", "symbol": "KCNJ10", "name": "potassium inwardly rectifying channel subfamily J member 10", "shared": 1, "url": "https://dantelabs.com/sv/genes/kcnj10" }, { "slug": "kctd17", "symbol": "KCTD17", "name": "potassium channel tetramerization domain containing 17", "shared": 1, "url": "https://dantelabs.com/sv/genes/kctd17" }, { "slug": "kmt2b", "symbol": "KMT2B", "name": "lysine methyltransferase 2B", "shared": 1, "url": "https://dantelabs.com/sv/genes/kmt2b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }