{
  "url": "https://dantelabs.com/tr/genes/lmod2",
  "gene": {
    "slug": "lmod2",
    "symbol": "LMOD2",
    "name": "leiomodin 2",
    "hgnc": "HGNC:6648",
    "summary": null,
    "location": "7q31.32",
    "locusType": "gene with protein product",
    "aliases": [
      "C-Lmod"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000170807",
    "entrezId": 442721,
    "omim": [
      "608006"
    ],
    "uniprot": [
      "Q6P5Q4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 123655866,
      "end": 123664290,
      "strand": "+",
      "ensemblTranscript": "ENST00000458573.3",
      "refseqTranscript": "NM_207163.3",
      "ensemblProtein": "ENSP00000411932.2",
      "refseqProtein": "NP_997046.1",
      "exons": [
        {
          "start": 123655866,
          "end": 123656236
        },
        {
          "start": 123661860,
          "end": 123663203
        },
        {
          "start": 123663719,
          "end": 123664290
        }
      ],
      "cds": {
        "start": 123655964,
        "end": 123663745
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 123295861,
      "end": 123304344,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 123160078,
      "end": 124160077,
      "genes": [
        {
          "symbol": "SLC13A1",
          "ensemblId": "ENSG00000081800",
          "biotype": "protein_coding",
          "start": 123113531,
          "end": 123200047,
          "strand": "-",
          "slug": "slc13a1"
        },
        {
          "symbol": "IQUB",
          "ensemblId": "ENSG00000164675",
          "biotype": "protein_coding",
          "start": 123452169,
          "end": 123535077,
          "strand": "-",
          "slug": "iqub"
        },
        {
          "symbol": "NDUFA5",
          "ensemblId": "ENSG00000128609",
          "biotype": "protein_coding",
          "start": 123536997,
          "end": 123557904,
          "strand": "-",
          "slug": "ndufa5"
        },
        {
          "symbol": "ASB15",
          "ensemblId": "ENSG00000146809",
          "biotype": "protein_coding",
          "start": 123567010,
          "end": 123639481,
          "strand": "+",
          "slug": "asb15"
        },
        {
          "symbol": "WASL",
          "ensemblId": "ENSG00000106299",
          "biotype": "protein_coding",
          "start": 123681938,
          "end": 123749181,
          "strand": "-",
          "slug": "wasl"
        },
        {
          "symbol": "HYAL4",
          "ensemblId": "ENSG00000106302",
          "biotype": "protein_coding",
          "start": 123828955,
          "end": 123877481,
          "strand": "+",
          "slug": "hyal4"
        },
        {
          "symbol": "SPAM1",
          "ensemblId": "ENSG00000106304",
          "biotype": "protein_coding",
          "start": 123925237,
          "end": 123971414,
          "strand": "+",
          "slug": "spam1"
        },
        {
          "symbol": "TMEM229A",
          "ensemblId": "ENSG00000234224",
          "biotype": "protein_coding",
          "start": 124030921,
          "end": 124033067,
          "strand": "-",
          "slug": "tmem229a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Dilate Kardiyomiyopati",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Dilate Kardiyomiyopati",
            "genes": 50,
            "inheritance": null,
            "description": "Koroner arter veya kapak hastalığıyla açıklanamayan, sol ventrikülün genişleyip zayıflaması; kalıtsal formlar TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN ve diğer birçok genle ilişkilidir ve Barth sendromu ile Emery-Dreifuss kas distrofilerini içerir.",
            "management": "Genetik bir nedenin bilinmesi, kalp takibinin daha erken başlamasına ve aile taramasının yapılmasına destek olur. LMNA, FLNC ve RBM20 gibi yüksek aritmi riski taşıyan genler için ise ritim takibi ve implante edilebilir defibrilatör kararlarında yol gösterici olur.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/dilated-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "cerebral-hemorrhage",
        "name": "Bleeding in brain",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-hemorrhage"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cardiogenic-shock",
        "name": "Cardiogenic shock",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiogenic-shock"
      },
      {
        "slug": "complete-right-bundle-branch-block",
        "name": "Complete right bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "increased-z-disc-width",
        "name": "Increased Z-disc width",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-z-disc-width"
      },
      {
        "slug": "left-atrial-enlargement",
        "name": "Left atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-atrial-enlargement"
      },
      {
        "slug": "left-ventricular-systolic-dysfunction",
        "name": "Left ventricular systolic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction"
      },
      {
        "slug": "lipoatrophy",
        "name": "Loss of fat tissue in localized area",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lipoatrophy"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "monomorphic-ventricular-tachycardia",
        "name": "Monomorphic ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/monomorphic-ventricular-tachycardia"
      },
      {
        "slug": "multifocal-atrial-tachycardia",
        "name": "Multifocal atrial tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multifocal-atrial-tachycardia"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "myocardial-sarcomeric-disarray",
        "name": "Myocardial sarcomeric disarray",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myocardial-sarcomeric-disarray"
      },
      {
        "slug": "myofiber-disarray",
        "name": "Myofiber disarray",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myofiber-disarray"
      },
      {
        "slug": "orthopnea",
        "name": "Orthopnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthopnea"
      },
      {
        "slug": "paroxysmal-ventricular-tachycardia",
        "name": "Paroxysmal ventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/paroxysmal-ventricular-tachycardia"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severely-reduced-left-ventricular-ejection-fraction",
        "name": "Severely reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severely-reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "thromboembolic-stroke",
        "name": "Thromboembolic stroke",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolic-stroke"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      }
    ],
    "related": [
      {
        "slug": "abcc9",
        "symbol": "ABCC9",
        "name": "ATP binding cassette subfamily C member 9",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/abcc9"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/actc1"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "name": "BAG cochaperone 3",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/bag3"
      },
      {
        "slug": "bag5",
        "symbol": "BAG5",
        "name": "BAG cochaperone 5",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/bag5"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/des"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "name": "dystrophin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/dmd"
      },
      {
        "slug": "dolk",
        "symbol": "DOLK",
        "name": "dolichol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/dolk"
      },
      {
        "slug": "emd",
        "symbol": "EMD",
        "name": "emerin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/emd"
      },
      {
        "slug": "fhl1",
        "symbol": "FHL1",
        "name": "four and a half LIM domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/fhl1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/fktn"
      },
      {
        "slug": "flii",
        "symbol": "FLII",
        "name": "FLII actin remodeling protein",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/flii"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/flnc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-e609d43e",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}