{
  "url": "https://dantelabs.com/no/genes/plekhm1",
  "gene": {
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        {
          "symbol": "MAP3K14",
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        {
          "symbol": "LINC02210-CRHR1",
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        {
          "symbol": "SPPL2C",
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        {
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          "slug": "mapt"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "osteopetrosis",
        "name": "Osteopetrose",
        "diseases": [
          {
            "mondoId": "MONDO:0017198",
            "name": "Osteopetrose",
            "genes": 14,
            "inheritance": null,
            "description": "Osteopetrose, også kjent som marmorbensykdom, er en beskrivende betegnelse på en gruppe sjeldne, arvelige skjelettlidelser som kjennetegnes av økt beintetthet på røntgenbilder.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/osteopetrosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormality-of-bone-mineral-density",
        "name": "Abnormality of bone mineral density",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-bone-mineral-density"
      },
      {
        "slug": "abnormal-dental-morphology",
        "name": "Abnormality of dental shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-dental-morphology"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "back-pain",
        "name": "Back pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/back-pain"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "chronic-infection",
        "name": "Chronic infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chronic-infection"
      },
      {
        "slug": "cortical-sclerosis",
        "name": "Cortical sclerosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cortical-sclerosis"
      },
      {
        "slug": "cortical-sclerosis-of-the-iliac-wing",
        "name": "Cortical sclerosis of the iliac wing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cortical-sclerosis-of-the-iliac-wing"
      },
      {
        "slug": "cranial-nerve-compression",
        "name": "Cranial nerve compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cranial-nerve-compression"
      },
      {
        "slug": "dense-metaphyseal-bands",
        "name": "Dense metaphyseal bands",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/dense-metaphyseal-bands"
      },
      {
        "slug": "spontaneous-tooth-loss",
        "name": "Early tooth loss",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spontaneous-tooth-loss"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "hyperparathyroidism",
        "name": "Elevated blood parathyroid hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperparathyroidism"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "erlenmeyer-flask-deformity-of-the-femurs",
        "name": "Erlenmeyer flask shaped thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erlenmeyer-flask-deformity-of-the-femurs"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "osteopetrosis",
        "name": "Harder, denser, fracture-prone bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopetrosis"
      },
      {
        "slug": "generalized-osteosclerosis",
        "name": "Increased bone density in skeletal bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-osteosclerosis"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "thickened-calvaria",
        "name": "Increased thickness of skull cap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thickened-calvaria"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "asthenia",
        "name": "Lack of energy and strength",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/asthenia"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "optic-atrophy-from-cranial-nerve-compression",
        "name": "Optic atrophy from cranial nerve compression",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-atrophy-from-cranial-nerve-compression"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteosclerosis-of-the-base-of-the-skull",
        "name": "Osteosclerosis of the base of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteosclerosis-of-the-base-of-the-skull"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "sandwich-appearance-of-vertebral-bodies",
        "name": "Sandwich appearance of vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sandwich-appearance-of-vertebral-bodies"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "amer1",
        "symbol": "AMER1",
        "name": "APC membrane recruitment protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/amer1"
      },
      {
        "slug": "ca2",
        "symbol": "CA2",
        "name": "carbonic anhydrase 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ca2"
      },
      {
        "slug": "clcn7",
        "symbol": "CLCN7",
        "name": "Cl-/H+ antiporter 7",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/clcn7"
      },
      {
        "slug": "ctsk",
        "symbol": "CTSK",
        "name": "cathepsin K",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ctsk"
      },
      {
        "slug": "fermt3",
        "symbol": "FERMT3",
        "name": "FERM domain containing kindlin 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/fermt3"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "name": "LDL receptor related protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/lrp5"
      },
      {
        "slug": "lrrk1",
        "symbol": "LRRK1",
        "name": "leucine rich repeat kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/lrrk1"
      },
      {
        "slug": "ostm1",
        "symbol": "OSTM1",
        "name": "osteoclastogenesis associated transmembrane protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ostm1"
      },
      {
        "slug": "rasgrp2",
        "symbol": "RASGRP2",
        "name": "RAS guanyl releasing protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/rasgrp2"
      },
      {
        "slug": "snx10",
        "symbol": "SNX10",
        "name": "sorting nexin 10",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/snx10"
      },
      {
        "slug": "tcirg1",
        "symbol": "TCIRG1",
        "name": "T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/tcirg1"
      },
      {
        "slug": "tnfrsf11a",
        "symbol": "TNFRSF11A",
        "name": "TNF receptor superfamily member 11a",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/tnfrsf11a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}