{
  "url": "https://dantelabs.com/no/genes/popdc1",
  "gene": {
    "slug": "popdc1",
    "symbol": "POPDC1",
    "name": "popeye domain cAMP effector 1",
    "hgnc": "HGNC:1152",
    "summary": null,
    "location": "6q21",
    "locusType": "gene with protein product",
    "aliases": [
      "POP1",
      "HBVES"
    ],
    "previousSymbols": [
      "BVES"
    ],
    "ensemblId": "ENSG00000112276",
    "entrezId": 11149,
    "omim": [
      "604577"
    ],
    "uniprot": [
      "Q8NE79"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 105096822,
      "end": 105137157,
      "strand": "-",
      "ensemblTranscript": "ENST00000314641.10",
      "refseqTranscript": "NM_001199563.2",
      "ensemblProtein": "ENSP00000313172.5",
      "refseqProtein": "NP_001186492.1",
      "exons": [
        {
          "start": 105096822,
          "end": 105101213
        },
        {
          "start": 105115686,
          "end": 105115827
        },
        {
          "start": 105116701,
          "end": 105116868
        },
        {
          "start": 105124547,
          "end": 105124655
        },
        {
          "start": 105125391,
          "end": 105125578
        },
        {
          "start": 105129379,
          "end": 105129503
        },
        {
          "start": 105133352,
          "end": 105133588
        },
        {
          "start": 105136969,
          "end": 105137157
        }
      ],
      "cds": {
        "start": 105101089,
        "end": 105133577
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 105544697,
      "end": 105585049,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 104616990,
      "end": 105616989,
      "genes": [
        {
          "symbol": "HACE1",
          "ensemblId": "ENSG00000085382",
          "biotype": "protein_coding",
          "start": 104728093,
          "end": 104859947,
          "strand": "-",
          "slug": "hace1"
        },
        {
          "symbol": "LIN28B",
          "ensemblId": "ENSG00000187772",
          "biotype": "protein_coding",
          "start": 104936616,
          "end": 105083332,
          "strand": "+",
          "slug": "lin28b"
        },
        {
          "symbol": "POPDC3",
          "ensemblId": "ENSG00000132429",
          "biotype": "protein_coding",
          "start": 105157892,
          "end": 105180447,
          "strand": "-",
          "slug": "popdc3"
        },
        {
          "symbol": "PREP",
          "ensemblId": "ENSG00000085377",
          "biotype": "protein_coding",
          "start": 105273218,
          "end": 105454062,
          "strand": "-",
          "slug": "prep"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Gördelmuskeldystrofi",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Gördelmuskeldystrofi",
            "genes": 33,
            "inheritance": null,
            "description": "Gördelmuskeldystrofi defineres som en samling av mange undertyper med ulike arvemønstre (der også grunnlaget for diagnose varierer). Bærere av varianter knyttet til sykdommen bør søke veiledning hos en spesialist i muskel- og skjelettsykdommer for en endelig diagnose.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/limb-girdle-muscular-dystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "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": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "slug": "limb-girdle-muscle-weakness",
        "name": "Limb-girdle muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-girdle-muscle-weakness"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-fiber-necrosis",
        "name": "Muscle fiber necrosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-fiber-necrosis"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "second-degree-atrioventricular-block",
        "name": "Second degree atrioventricular block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/second-degree-atrioventricular-block"
      },
      {
        "slug": "sinus-bradycardia",
        "name": "Sinus bradycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sinus-bradycardia"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ano5"
      },
      {
        "slug": "capn3",
        "symbol": "CAPN3",
        "name": "calpain 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/capn3"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col6a3"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "name": "dystroglycan 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dag1"
      },
      {
        "slug": "dnajb6",
        "symbol": "DNAJB6",
        "name": "DnaJ heat shock protein family (Hsp40) member B6",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dnajb6"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "name": "dysferlin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dysf"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fktn"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "name": "GDP-mannose pyrophosphorylase B",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gmppb"
      },
      {
        "slug": "hmgcr",
        "symbol": "HMGCR",
        "name": "3-hydroxy-3-methylglutaryl-CoA reductase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/hmgcr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}