{ "url": "https://dantelabs.com/pl/genes/myo6", "gene": { "slug": "myo6", "symbol": "MYO6", "name": "myosin VI", "hgnc": "HGNC:7605", "summary": null, "location": "6q14.1", "locusType": "gene with protein product", "aliases": [ "KIAA0389" ], "previousSymbols": [ "DFNA22", "DFNB37" ], "ensemblId": "ENSG00000196586", "entrezId": 4646, "omim": [ "600970" ], "uniprot": [ "Q9UM54" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "6", "start": 75749239, "end": 75919537, "strand": "+", "ensemblTranscript": "ENST00000369977.8", "refseqTranscript": "NM_004999.4", "ensemblProtein": "ENSP00000358994.3", "refseqProtein": "NP_004990.3", "exons": [ { "start": 75749239, "end": 75749423 }, { "start": 75817501, "end": 75817664 }, { "start": 75822782, "end": 75822851 }, { "start": 75828540, "end": 75828613 }, { "start": 75830416, "end": 75830545 }, { "start": 75832842, "end": 75832947 }, { "start": 75835901, "end": 75835956 }, { "start": 75840585, "end": 75840682 }, { "start": 75841214, "end": 75841378 }, { "start": 75844897, "end": 75844977 }, { "start": 75848351, "end": 75848531 }, { "start": 75855139, "end": 75855283 }, { "start": 75857097, "end": 75857254 }, { "start": 75858902, "end": 75858993 }, { "start": 75861023, "end": 75861095 }, { "start": 75862596, "end": 75862723 }, { "start": 75866526, "end": 75866621 }, { "start": 75866932, "end": 75867105 }, { "start": 75870647, "end": 75870685 }, { "start": 75873207, "end": 75873300 }, { "start": 75879820, "end": 75879950 }, { "start": 75880043, "end": 75880120 }, { "start": 75881689, "end": 75881818 }, { "start": 75886004, "end": 75886094 }, { "start": 75886844, "end": 75886994 }, { "start": 75890057, "end": 75890265 }, { "start": 75891228, "end": 75891306 }, { "start": 75892530, "end": 75892690 }, { "start": 75895231, "end": 75895260 }, { "start": 75898373, "end": 75898411 }, { "start": 75907605, "end": 75907708 }, { "start": 75908496, "end": 75908627 }, { "start": 75911672, "end": 75911698 }, { "start": 75914063, "end": 75914281 }, { "start": 75914813, "end": 75919537 } ], "cds": { "start": 75817548, "end": 75915012 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "6", "start": 76458909, "end": 76629254, "strand": "+" }, "neighbourhood": { "release": "116", "start": 75334388, "end": 76334387, "genes": [ { "symbol": "FILIP1", "ensemblId": "ENSG00000118407", "biotype": "protein_coding", "start": 75291859, "end": 75493919, "strand": "-", "slug": "filip1" }, { "symbol": "SENP6", "ensemblId": "ENSG00000112701", "biotype": "protein_coding", "start": 75601509, "end": 75718281, "strand": "+", "slug": "senp6" }, { "symbol": "IMPG1", "ensemblId": "ENSG00000112706", "biotype": "protein_coding", "start": 75921114, "end": 76072678, "strand": "-", "slug": "impg1" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Utrata słuchu i głuchota", "diseases": [ { "mondoId": "MONDO:0019587", "name": "Autosomalna dominująca niesyndromowa utrata słuchu", "genes": 39, "inheritance": "autosomal-dominant", "description": "Autosomalna dominująca postać niesyndromowej głuchoty.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Niezespołowa genetyczna utrata słuchu", "genes": 97, "inheritance": null, "description": "Dziedziczna utrata słuchu bez innych objawów medycznych, obejmująca częste recesywne postacie wywoływane przez GJB2, OTOF, SLC26A4, STRC i wiele innych genów, a także postacie dominujące, sprzężone z chromosomem X oraz mitochondrialne.", "management": "Znajomość genetycznej przyczyny może pomóc w wyborze wsparcia słuchowego i decyzji dotyczących implantu ślimakowego, kwalifikacji do badań terapii genowych (na przykład w przypadku OTOF) oraz poradnictwa rodzinnego.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "early-onset-non-progressive-night-blindness", "name": "Night blindness since birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness" }, { "slug": "progressive-sensorineural-hearing-impairment", "name": "Progressive sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/pl/genes/actg1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/pl/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": "https://dantelabs.com/pl/genes/cd164" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 2, "url": "https://dantelabs.com/pl/genes/ceacam16" }, { "slug": "coch", "symbol": "COCH", "name": "cochlin", "shared": 2, "url": "https://dantelabs.com/pl/genes/coch" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 2, "url": "https://dantelabs.com/pl/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "name": "collagen type XI alpha 2 chain", "shared": 2, "url": "https://dantelabs.com/pl/genes/col11a2" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 2, "url": "https://dantelabs.com/pl/genes/diaph1" }, { "slug": "eya4", "symbol": "EYA4", "name": "EYA transcriptional coactivator and phosphatase 4", "shared": 2, "url": "https://dantelabs.com/pl/genes/eya4" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/gjb2" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 2, "url": "https://dantelabs.com/pl/genes/gjb6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 2, "url": "https://dantelabs.com/genes/myo6/variants", "items": [ { "slug": "q918tfs24", "name": "Q918Tfs*24", "commonName": null, "symbol": "MYO6", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.2751dup", "position": 75890140, "grch37Position": 76599857, "part": { "kind": "exon", "number": 26 }, "url": "https://dantelabs.com/genes/myo6/variants/q918tfs24" }, { "slug": "r80x", "name": "R80X", "commonName": null, "symbol": "MYO6", "classification": "pathogenic", "stars": 3, "hgvsC": "c.238C>T", "position": 75828590, "grch37Position": 76538307, "part": { "kind": "exon", "number": 4 }, "url": "https://dantelabs.com/genes/myo6/variants/r80x" } ] } }