{
  "url": "https://dantelabs.com/hu/genes/myot",
  "gene": {
    "slug": "myot",
    "symbol": "MYOT",
    "name": "myotilin",
    "hgnc": "HGNC:12399",
    "summary": null,
    "location": "5q31.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "TTID",
      "LGMD1A",
      "LGMD1"
    ],
    "ensemblId": "ENSG00000120729",
    "entrezId": 9499,
    "omim": [
      "604103"
    ],
    "uniprot": [
      "Q9UBF9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 137867860,
      "end": 137887851,
      "strand": "+",
      "ensemblTranscript": "ENST00000239926.9",
      "refseqTranscript": "NM_006790.3",
      "ensemblProtein": "ENSP00000239926.4",
      "refseqProtein": "NP_006781.1",
      "exons": [
        {
          "start": 137867860,
          "end": 137867953
        },
        {
          "start": 137870441,
          "end": 137871007
        },
        {
          "start": 137875829,
          "end": 137876003
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        {
          "start": 137877520,
          "end": 137877621
        },
        {
          "start": 137880816,
          "end": 137880865
        },
        {
          "start": 137881973,
          "end": 137882105
        },
        {
          "start": 137883384,
          "end": 137883591
        },
        {
          "start": 137886048,
          "end": 137886213
        },
        {
          "start": 137886864,
          "end": 137886997
        },
        {
          "start": 137887213,
          "end": 137887851
        }
      ],
      "cds": {
        "start": 137870652,
        "end": 137887385
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 137203480,
      "end": 137223540,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 137377856,
      "end": 138377855,
      "genes": [
        {
          "symbol": "SPOCK1",
          "ensemblId": "ENSG00000152377",
          "biotype": "protein_coding",
          "start": 136975298,
          "end": 137598379,
          "strand": "-",
          "slug": "spock1"
        },
        {
          "symbol": "KLHL3",
          "ensemblId": "ENSG00000146021",
          "biotype": "protein_coding",
          "start": 137617500,
          "end": 137736221,
          "strand": "-",
          "slug": "klhl3"
        },
        {
          "symbol": "HNRNPA0",
          "ensemblId": "ENSG00000177733",
          "biotype": "protein_coding",
          "start": 137745651,
          "end": 137754363,
          "strand": "-",
          "slug": "hnrnpa0"
        },
        {
          "symbol": "PKD2L2",
          "ensemblId": "ENSG00000078795",
          "biotype": "protein_coding",
          "start": 137887968,
          "end": 137942747,
          "strand": "+",
          "slug": "pkd2l2"
        },
        {
          "symbol": "FAM13B",
          "ensemblId": "ENSG00000031003",
          "biotype": "protein_coding",
          "start": 137937960,
          "end": 138051961,
          "strand": "-",
          "slug": "fam13b"
        },
        {
          "symbol": "WNT8A",
          "ensemblId": "ENSG00000061492",
          "biotype": "protein_coding",
          "start": 138083990,
          "end": 138092365,
          "strand": "+",
          "slug": "wnt8a"
        },
        {
          "symbol": "NME5",
          "ensemblId": "ENSG00000112981",
          "biotype": "protein_coding",
          "start": 138114412,
          "end": 138139443,
          "strand": "-",
          "slug": "nme5"
        },
        {
          "symbol": "BRD8",
          "ensemblId": "ENSG00000112983",
          "biotype": "protein_coding",
          "start": 138139770,
          "end": 138178988,
          "strand": "-",
          "slug": "brd8"
        },
        {
          "symbol": "KIF20A",
          "ensemblId": "ENSG00000112984",
          "biotype": "protein_coding",
          "start": 138178715,
          "end": 138188171,
          "strand": "+",
          "slug": "kif20a"
        },
        {
          "symbol": "CDC23",
          "ensemblId": "ENSG00000094880",
          "biotype": "protein_coding",
          "start": 138180663,
          "end": 138213346,
          "strand": "-",
          "slug": "cdc23"
        },
        {
          "symbol": "GFRA3",
          "ensemblId": "ENSG00000146013",
          "biotype": "protein_coding",
          "start": 138252380,
          "end": 138274621,
          "strand": "-",
          "slug": "gfra3"
        },
        {
          "symbol": "CDC25C",
          "ensemblId": "ENSG00000158402",
          "biotype": "protein_coding",
          "start": 138285251,
          "end": 138338355,
          "strand": "-",
          "slug": "cdc25c"
        },
        {
          "symbol": "FAM53C",
          "ensemblId": "ENSG00000120709",
          "biotype": "protein_coding",
          "start": 138331935,
          "end": 138349729,
          "strand": "+",
          "slug": "fam53c"
        },
        {
          "symbol": "KDM3B",
          "ensemblId": "ENSG00000120733",
          "biotype": "protein_coding",
          "start": 138352676,
          "end": 138437028,
          "strand": "+",
          "slug": "kdm3b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "distal-myopathies",
        "name": "Distal Myopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0018949",
            "name": "Distal myopathy",
            "genes": 16,
            "inheritance": null,
            "description": "A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/distal-myopathies"
      },
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Limb-Girdle Muscular Dystrophy",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Limb-girdle Muscular Dystrophy",
            "genes": 33,
            "inheritance": null,
            "description": "Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/limb-girdle-muscular-dystrophy"
      },
      {
        "slug": "myofibrillar-myopathies",
        "name": "Myofibrillar Myopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0018943",
            "name": "Myofibrillar myopathy",
            "genes": 13,
            "inheritance": null,
            "description": "A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.",
            "management": "Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/myofibrillar-myopathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-muscle-fiber-myotilin",
        "name": "Abnormal muscle fiber myotilin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-muscle-fiber-myotilin"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "autophagic-vacuoles",
        "name": "Autophagic vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autophagic-vacuoles"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "facial-hypotonia",
        "name": "Decreased facial muscle tone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-hypotonia"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "difficulty-standing",
        "name": "Difficulty in standing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/difficulty-standing"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "abnormal-respiratory-system-physiology",
        "name": "Functional respiratory abnormality",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-respiratory-system-physiology"
      },
      {
        "slug": "hip-flexor-weakness",
        "name": "Hip flexor weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-flexor-weakness"
      },
      {
        "slug": "hyporeflexia-of-lower-limbs",
        "name": "Hyporeflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia-of-lower-limbs"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "increased-endomysial-connective-tissue",
        "name": "Increased endomysial connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "limited-elbow-flexion",
        "name": "Limited elbow flexion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-elbow-flexion"
      },
      {
        "slug": "limited-knee-flexion-extension",
        "name": "Limited knee flexion/extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-knee-flexion-extension"
      },
      {
        "slug": "loss-of-ability-to-walk-in-first-decade",
        "name": "Loss of ability to walk in first decade",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ability-to-walk-in-first-decade"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-fiber-cytoplasmatic-inclusion-bodies",
        "name": "Muscle fiber cytoplasmatic inclusion bodies",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-fiber-cytoplasmatic-inclusion-bodies"
      },
      {
        "slug": "muscle-fiber-splitting",
        "name": "Muscle fiber splitting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-fiber-splitting"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "myofibrillar-myopathy",
        "name": "Myofibrillar myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myofibrillar-myopathy"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "pelvic-girdle-muscle-weakness",
        "name": "Pelvic girdle muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pelvic-girdle-muscle-weakness"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-distal-muscle-weakness",
        "name": "Progressive distal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-distal-muscle-weakness"
      },
      {
        "slug": "progressive-proximal-muscle-weakness",
        "name": "Progressive proximal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-proximal-muscle-weakness"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "reduced-maximal-inspiratory-pressure",
        "name": "Reduced maximal inspiratory pressure",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-maximal-inspiratory-pressure"
      },
      {
        "slug": "reduced-vital-capacity",
        "name": "Reduced vital capacity",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-vital-capacity"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "achilles-tendon-contracture",
        "name": "Shortening of the achilles tendon",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/achilles-tendon-contracture"
      },
      {
        "slug": "shoulder-girdle-muscle-weakness",
        "name": "Weak shoulder muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "ttn",
        "symbol": "TTN",
        "name": "titin",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/ttn"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ano5"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "name": "crystallin alpha B",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cryab"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "name": "dysferlin",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dysf"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/flnc"
      },
      {
        "slug": "ldb3",
        "symbol": "LDB3",
        "name": "LIM domain binding 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ldb3"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "name": "adenylosuccinate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adss1"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "name": "BAG cochaperone 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/bag3"
      },
      {
        "slug": "capn3",
        "symbol": "CAPN3",
        "name": "calpain 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/capn3"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/col6a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}