{
  "url": "https://dantelabs.com/el/genes/myh9",
  "gene": {
    "slug": "myh9",
    "symbol": "MYH9",
    "name": "myosin heavy chain 9",
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      "FTNS",
      "EPSTS"
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    "previousSymbols": [
      "DFNA17"
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    "ensemblId": "ENSG00000100345",
    "entrezId": 4627,
    "omim": [
      "160775"
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    "uniprot": [
      "P35579"
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      "strand": "-",
      "ensemblTranscript": "ENST00000216181.11",
      "refseqTranscript": "NM_002473.6",
      "ensemblProtein": "ENSP00000216181.6",
      "refseqProtein": "NP_002464.1",
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
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      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "RBFOX2",
          "ensemblId": "ENSG00000100320",
          "biotype": "protein_coding",
          "start": 35738736,
          "end": 36028824,
          "strand": "-",
          "slug": "rbfox2"
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        {
          "symbol": "APOL3",
          "ensemblId": "ENSG00000128284",
          "biotype": "protein_coding",
          "start": 36139792,
          "end": 36166177,
          "strand": "-",
          "slug": "apol3"
        },
        {
          "symbol": "APOL4",
          "ensemblId": "ENSG00000100336",
          "biotype": "protein_coding",
          "start": 36189124,
          "end": 36204840,
          "strand": "-",
          "slug": "apol4"
        },
        {
          "symbol": "APOL2",
          "ensemblId": "ENSG00000128335",
          "biotype": "protein_coding",
          "start": 36220307,
          "end": 36239954,
          "strand": "-",
          "slug": "apol2"
        },
        {
          "symbol": "APOL1",
          "ensemblId": "ENSG00000100342",
          "biotype": "protein_coding",
          "start": 36253071,
          "end": 36267530,
          "strand": "+",
          "slug": "apol1"
        },
        {
          "symbol": "TXN2",
          "ensemblId": "ENSG00000100348",
          "biotype": "protein_coding",
          "start": 36466895,
          "end": 36482072,
          "strand": "-",
          "slug": "txn2"
        },
        {
          "symbol": "FOXRED2",
          "ensemblId": "ENSG00000100350",
          "biotype": "protein_coding",
          "start": 36487190,
          "end": 36507221,
          "strand": "-",
          "slug": "foxred2"
        },
        {
          "symbol": "EIF3D",
          "ensemblId": "ENSG00000100353",
          "biotype": "protein_coding",
          "start": 36510847,
          "end": 36529245,
          "strand": "-",
          "slug": "eif3d"
        },
        {
          "symbol": "CACNG2",
          "ensemblId": "ENSG00000166862",
          "biotype": "protein_coding",
          "start": 36560857,
          "end": 36703779,
          "strand": "-",
          "slug": "cacng2"
        },
        {
          "symbol": "IFT27",
          "ensemblId": "ENSG00000100360",
          "biotype": "protein_coding",
          "start": 36741346,
          "end": 36776309,
          "strand": "-",
          "slug": "ift27"
        },
        {
          "symbol": "PVALB",
          "ensemblId": "ENSG00000100362",
          "biotype": "protein_coding",
          "start": 36800682,
          "end": 36819479,
          "strand": "-",
          "slug": "pvalb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Απώλεια ακοής και κώφωση",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "Αυτοσωμικά επικρατής μη συνδρομική απώλεια ακοής",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "Αυτοσωμικά επικρατής μορφή μη συνδρομικής κώφωσης.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Μη συνδρομική γενετική απώλεια ακοής",
            "genes": 97,
            "inheritance": null,
            "description": "Κληρονομική απώλεια ακοής χωρίς άλλα ιατρικά συμπτώματα, συμπεριλαμβανομένων των συχνών υπολειπόμενων μορφών που προκαλούνται από τα GJB2, OTOF, SLC26A4, STRC και πολλά άλλα γονίδια, καθώς και των επικρατουσών, των φυλοσύνδετων και των μιτοχονδριακών μορφών.",
            "management": "Η γνώση της γενετικής αιτίας μπορεί να καθοδηγήσει την υποστήριξη ακοής και τις αποφάσεις για εμφύτευμα κοχλία, την επιλεξιμότητα για κλινικές δοκιμές γονιδιακής θεραπείας (για παράδειγμα για το OTOF) και τη γενετική συμβουλευτική της οικογένειας.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hearing-loss-and-deafness"
      },
      {
        "slug": "inherited-thrombocytopenias",
        "name": "Κληρονομικές θρομβοκυτταροπενίες",
        "diseases": [
          {
            "mondoId": "MONDO:0100241",
            "name": "Κληρονομική θρομβοκυτταροπενία",
            "genes": 33,
            "inheritance": null,
            "description": "Μια ομάδα παθήσεων που προκαλούν χαμηλό αριθμό αιμοπεταλίων για όλη τη ζωή, συνδεδεμένες με γονίδια όπως τα MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 και MECOM, και κληρονομούνται με επικρατή, υπολειπόμενο ή συνδεδεμένο με το X χρωμόσωμα τρόπο.",
            "management": "Μια γενετική διάγνωση αποτρέπει τη λανθασμένη διάγνωση ως ανοσολογική θρομβοκυτταροπενία, με περιττές κορτικοστεροειδείς θεραπείες ή αφαίρεση του σπληνός, και καθοδηγεί την παρακολούθηση για σχετικά προβλήματα των νεφρών, της ακοής ή του αίματος.",
            "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/el/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/el/genes/diaph1"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/ceacam16"
      },
      {
        "slug": "coch",
        "symbol": "COCH",
        "name": "cochlin",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/coch"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/col11a2"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/eya4"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/gjb6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}