{
  "url": "https://dantelabs.com/genes/myh9",
  "gene": {
    "slug": "myh9",
    "symbol": "MYH9",
    "name": "myosin heavy chain 9",
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    "uniprot": [
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      "genes": [
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          "ensemblId": "ENSG00000100320",
          "biotype": "protein_coding",
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          "slug": "rbfox2"
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          "slug": "apol3"
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        {
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          "ensemblId": "ENSG00000100336",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "apol4"
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        {
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          "ensemblId": "ENSG00000128335",
          "biotype": "protein_coding",
          "start": 36220307,
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          "strand": "-",
          "slug": "apol2"
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        {
          "symbol": "APOL1",
          "ensemblId": "ENSG00000100342",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "apol1"
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        {
          "symbol": "TXN2",
          "ensemblId": "ENSG00000100348",
          "biotype": "protein_coding",
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        {
          "symbol": "FOXRED2",
          "ensemblId": "ENSG00000100350",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "foxred2"
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        {
          "symbol": "EIF3D",
          "ensemblId": "ENSG00000100353",
          "biotype": "protein_coding",
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          "slug": "eif3d"
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        {
          "symbol": "CACNG2",
          "ensemblId": "ENSG00000166862",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cacng2"
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        {
          "symbol": "IFT27",
          "ensemblId": "ENSG00000100360",
          "biotype": "protein_coding",
          "start": 36741346,
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          "strand": "-",
          "slug": "ift27"
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        {
          "symbol": "PVALB",
          "ensemblId": "ENSG00000100362",
          "biotype": "protein_coding",
          "start": 36800682,
          "end": 36819479,
          "strand": "-",
          "slug": "pvalb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Hearing Loss and Deafness",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "Autosomal Dominant Nonsyndromic Hearing Loss",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "Autosomal dominant form of nonsyndromic deafness.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Nonsyndromic Genetic Hearing Loss",
            "genes": 97,
            "inheritance": null,
            "description": "Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.",
            "management": "Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/hearing-loss-and-deafness"
      },
      {
        "slug": "inherited-thrombocytopenias",
        "name": "Inherited Thrombocytopenias",
        "diseases": [
          {
            "mondoId": "MONDO:0100241",
            "name": "Inherited Thrombocytopenia",
            "genes": 33,
            "inheritance": null,
            "description": "A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.",
            "management": "A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.",
            "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/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/genes/diaph1"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ceacam16"
      },
      {
        "slug": "coch",
        "symbol": "COCH",
        "name": "cochlin",
        "shared": 2,
        "url": "https://dantelabs.com/genes/coch"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/genes/col11a2"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/genes/eya4"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 2,
        "url": "https://dantelabs.com/genes/gjb6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}