{ "url": "https://dantelabs.com/fr/genes/myh9", "gene": { "slug": "myh9", "symbol": "MYH9", "name": "myosin heavy chain 9", "hgnc": "HGNC:7579", "summary": null, "location": "22q12.3", "locusType": "gene with protein product", "aliases": [ "NMMHCA", "NMHC-II-A", "MHA", "FTNS", "EPSTS" ], "previousSymbols": [ "DFNA17" ], "ensemblId": "ENSG00000100345", "entrezId": 4627, "omim": [ "160775" ], "uniprot": [ "P35579" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 36281280, "end": 36387967, "strand": "-", "ensemblTranscript": "ENST00000216181.11", "refseqTranscript": "NM_002473.6", "ensemblProtein": "ENSP00000216181.6", "refseqProtein": "NP_002464.1", "exons": [ { "start": 36281280, "end": 36282785 }, { "start": 36284093, "end": 36284265 }, { "start": 36284403, "end": 36284511 }, { "start": 36285121, "end": 36285329 }, { "start": 36285658, "end": 36285781 }, { "start": 36285865, "end": 36285953 }, { "start": 36286718, "end": 36286846 }, { "start": 36288252, 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compris les formes récessives fréquentes causées par GJB2, OTOF, SLC26A4, STRC et de nombreux autres gènes, ainsi que les formes dominantes, liées à l'X et mitochondriales.", "management": "Connaître la cause génétique peut orienter la prise en charge auditive et les décisions concernant l'implant cochléaire, l'éligibilité à des essais de thérapie génique (par exemple pour OTOF) et le conseil génétique familial.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/hearing-loss-and-deafness" }, { "slug": "inherited-thrombocytopenias", "name": "Thrombocytopénies héréditaires", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Thrombocytopénie héréditaire", "genes": 33, "inheritance": null, "description": "Groupe de maladies entraînant une numération plaquettaire basse tout au long de la vie, liées à des gènes tels que MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 et MECOM, et transmises selon des modes dominant, récessif ou lié à l’X.", "management": "Un diagnostic génétique permet d’éviter une erreur de diagnostic de thrombocytopénie immunologique, avec des traitements stéroïdiens ou une ablation de la rate inutiles, et oriente la surveillance des problèmes rénaux, auditifs ou sanguins associés.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-thrombosis", "name": "Abnormal blood clot", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/abnormal-thrombosis" }, { "slug": "menorrhagia", "name": "Abnormally heavy bleeding during menstruation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/menorrhagia" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "congenital-thrombocytopenia", "name": "Congenital thrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/congenital-thrombocytopenia" }, { "slug": "giant-platelets", "name": "Giant platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/giant-platelets" }, { "slug": "high-frequency-hearing-impairment", "name": "Hearing loss, high-frequency", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/high-frequency-hearing-impairment" }, { "slug": "myocardial-infarction", "name": "Heart attack", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/myocardial-infarction" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "impaired-adp-induced-platelet-aggregation", "name": "Impaired ADP-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-adp-induced-platelet-aggregation" }, { "slug": "impaired-epinephrine-induced-platelet-aggregation", "name": "Impaired epinephrine-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-epinephrine-induced-platelet-aggregation" }, { "slug": "nephropathy", "name": "Kidney damage", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nephropathy" }, { "slug": "nephritis", "name": "Kidney inflammation", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nephritis" }, { "slug": "increased-mean-platelet-volume", "name": "Large platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-mean-platelet-volume" }, { "slug": "leukocyte-inclusion-bodies", "name": "Leukocyte inclusion bodies", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukocyte-inclusion-bodies" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "macrothrombocytopenia", "name": "Macrothrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrothrombocytopenia" }, { "slug": "megakaryocyte-dysplasia", "name": "Megakaryocyte dysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/megakaryocyte-dysplasia" }, { "slug": "neutrophil-inclusion-bodies", "name": "Neutrophil inclusion bodies", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neutrophil-inclusion-bodies" }, { "slug": "presenile-cataracts", "name": "Presenile cataracts", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/presenile-cataracts" }, { "slug": "prolonged-bleeding-time", "name": "Prolonged bleeding time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-bleeding-time" }, { "slug": "spontaneous-recurrent-epistaxis", "name": "Recurring nosebleed", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spontaneous-recurrent-epistaxis" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" } ], "related": [ { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 3, "url": "https://dantelabs.com/fr/genes/diaph1" }, { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/actg1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/fr/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": "https://dantelabs.com/fr/genes/cd164" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 2, "url": "https://dantelabs.com/fr/genes/ceacam16" }, { "slug": "coch", "symbol": "COCH", "name": "cochlin", "shared": 2, "url": "https://dantelabs.com/fr/genes/coch" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 2, "url": "https://dantelabs.com/fr/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "name": "collagen type XI alpha 2 chain", "shared": 2, "url": "https://dantelabs.com/fr/genes/col11a2" }, { "slug": "eya4", "symbol": "EYA4", "name": "EYA transcriptional coactivator and phosphatase 4", "shared": 2, "url": "https://dantelabs.com/fr/genes/eya4" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/gjb2" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 2, "url": "https://dantelabs.com/fr/genes/gjb6" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }