{
  "url": "https://dantelabs.com/sv/genes/nexn",
  "gene": {
    "slug": "nexn",
    "symbol": "NEXN",
    "name": "nexilin F-actin binding protein",
    "hgnc": "HGNC:29557",
    "summary": null,
    "location": "1p31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "nexilin",
      "NELIN"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000162614",
    "entrezId": 91624,
    "omim": [
      "613121"
    ],
    "uniprot": [
      "Q0ZGT2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 77888624,
      "end": 77943895,
      "strand": "+",
      "ensemblTranscript": "ENST00000334785.12",
      "refseqTranscript": "NM_144573.4",
      "ensemblProtein": "ENSP00000333938.7",
      "refseqProtein": "NP_653174.3",
      "exons": [
        {
          "start": 77888624,
          "end": 77888759
        },
        {
          "start": 77916055,
          "end": 77916133
        },
        {
          "start": 77917566,
          "end": 77917757
        },
        {
          "start": 77917960,
          "end": 77918038
        },
        {
          "start": 77918125,
          "end": 77918273
        },
        {
          "start": 77925188,
          "end": 77925229
        },
        {
          "start": 77926414,
          "end": 77926611
        },
        {
          "start": 77926716,
          "end": 77926892
        },
        {
          "start": 77929316,
          "end": 77929504
        },
        {
          "start": 77933282,
          "end": 77933479
        },
        {
          "start": 77935823,
          "end": 77936044
        },
        {
          "start": 77942023,
          "end": 77942208
        },
        {
          "start": 77942461,
          "end": 77943895
        }
      ],
      "cds": {
        "start": 77916107,
        "end": 77942829
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 78354198,
      "end": 78409580,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 77416260,
      "end": 78416259,
      "genes": [
        {
          "symbol": "AK5",
          "ensemblId": "ENSG00000154027",
          "biotype": "protein_coding",
          "start": 77281853,
          "end": 77559966,
          "strand": "+",
          "slug": "ak5"
        },
        {
          "symbol": "ZZZ3",
          "ensemblId": "ENSG00000036549",
          "biotype": "protein_coding",
          "start": 77562416,
          "end": 77683550,
          "strand": "-",
          "slug": "zzz3"
        },
        {
          "symbol": "USP33",
          "ensemblId": "ENSG00000077254",
          "biotype": "protein_coding",
          "start": 77694724,
          "end": 77759904,
          "strand": "-",
          "slug": "usp33"
        },
        {
          "symbol": "MIGA1",
          "ensemblId": "ENSG00000180488",
          "biotype": "protein_coding",
          "start": 77779619,
          "end": 77879595,
          "strand": "+",
          "slug": "miga1"
        },
        {
          "symbol": "FUBP1",
          "ensemblId": "ENSG00000162613",
          "biotype": "protein_coding",
          "start": 77944055,
          "end": 77979527,
          "strand": "-",
          "slug": "fubp1"
        },
        {
          "symbol": "DNAJB4",
          "ensemblId": "ENSG00000162616",
          "biotype": "protein_coding",
          "start": 77979070,
          "end": 78019864,
          "strand": "+",
          "slug": "dnajb4"
        },
        {
          "symbol": "GIPC2",
          "ensemblId": "ENSG00000137960",
          "biotype": "protein_coding",
          "start": 77979542,
          "end": 78138463,
          "strand": "+",
          "slug": "gipc2"
        },
        {
          "symbol": "PTGFR",
          "ensemblId": "ENSG00000122420",
          "biotype": "protein_coding",
          "start": 78303884,
          "end": 78540701,
          "strand": "+",
          "slug": "ptgfr"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Dilaterad kardiomyopati",
        "diseases": [
          {
            "mondoId": "MONDO:0005021",
            "name": "Dilaterad kardiomyopati",
            "genes": 50,
            "inheritance": null,
            "description": "Förstoring och försvagning av vänster kammare som inte förklaras av kranskärls- eller klaffsjukdom. Ärftliga former involverar TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN och många andra gener, och omfattar Barths syndrom och Emery-Dreifuss muskeldystrofi.",
            "management": "Att känna till en genetisk orsak underlättar tidigare hjärtkontroller och screening av släktingar. För gener med hög risk för arytmi, som LMNA, FLNC och RBM20, ligger den till grund för beslut om rytmövervakning och implanterbara defibrillatorer.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Strong",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/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": "abnormal-left-ventricular-function",
        "name": "Abnormal left ventricular function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function"
      },
      {
        "slug": "absent-end-diastolic-umbilical-artery-flow",
        "name": "Absent end-diastolic umbilical artery flow",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-end-diastolic-umbilical-artery-flow"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "apical-hypertrabeculation-of-the-left-ventricle",
        "name": "Apical hypertrabeculation of the left ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/apical-hypertrabeculation-of-the-left-ventricle"
      },
      {
        "slug": "biventricular-hypertrophy",
        "name": "Biventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/biventricular-hypertrophy"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "elevated-left-ventricular-end-diastolic-diameter",
        "name": "Elevated left ventricular end-diastolic diameter",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-left-ventricular-end-diastolic-diameter"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "endocardial-fibroelastosis",
        "name": "Endocardial fibroelastosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/endocardial-fibroelastosis"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fetal-ascites",
        "name": "Fetal ascites",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-ascites"
      },
      {
        "slug": "fetal-pericardial-effusion",
        "name": "Fetal pericardial effusion",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-pericardial-effusion"
      },
      {
        "slug": "fetal-pleural-effusion",
        "name": "Fetal pleural effusion",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-pleural-effusion"
      },
      {
        "slug": "pleural-effusion",
        "name": "Fluid around lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pleural-effusion"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hydrops-fetalis",
        "name": "Hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydrops-fetalis"
      },
      {
        "slug": "increased-left-ventricular-end-diastolic-volume",
        "name": "Increased left ventricular end-diastolic volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-left-ventricular-end-diastolic-volume"
      },
      {
        "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-dilatation",
        "name": "Left ventricular dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-dilatation"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "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": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "moderately-reduced-left-ventricular-ejection-fraction",
        "name": "Moderately reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/moderately-reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "orthopnea",
        "name": "Orthopnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthopnea"
      },
      {
        "slug": "pulmonic-regurgitation",
        "name": "Pulmonic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonic-regurgitation"
      },
      {
        "slug": "atrial-fibrillation",
        "name": "Quivering upper heart chambers resulting in irregular heartbeat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-fibrillation"
      },
      {
        "slug": "reduced-left-ventricular-ejection-fraction",
        "name": "Reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "reduced-systolic-function",
        "name": "Reduced systolic function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-systolic-function"
      },
      {
        "slug": "right-atrial-enlargement",
        "name": "Right atrial enlargement",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/right-atrial-enlargement"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      },
      {
        "slug": "tube-feeding",
        "name": "Tube feeding",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tube-feeding"
      }
    ],
    "related": [
      {
        "slug": "abcc9",
        "symbol": "ABCC9",
        "name": "ATP binding cassette subfamily C member 9",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/abcc9"
      },
      {
        "slug": "actc1",
        "symbol": "ACTC1",
        "name": "actin alpha cardiac muscle 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/actc1"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "name": "BAG cochaperone 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bag3"
      },
      {
        "slug": "bag5",
        "symbol": "BAG5",
        "name": "BAG cochaperone 5",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bag5"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "name": "desmin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/des"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "name": "dystrophin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dmd"
      },
      {
        "slug": "dolk",
        "symbol": "DOLK",
        "name": "dolichol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dolk"
      },
      {
        "slug": "emd",
        "symbol": "EMD",
        "name": "emerin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/emd"
      },
      {
        "slug": "fhl1",
        "symbol": "FHL1",
        "name": "four and a half LIM domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fhl1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fktn"
      },
      {
        "slug": "flii",
        "symbol": "FLII",
        "name": "FLII actin remodeling protein",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/flii"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/flnc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}