{
  "url": "https://dantelabs.com/nl/genes/rbm28",
  "gene": {
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      ],
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    "reports": [
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        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotrope hypogonadisme",
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            "mondoId": "MONDO:0018555",
            "name": "Hypogonadotrope hypogonadisme",
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            "inheritance": null,
            "description": "Een afwijkende werking van de eierstokken of testikels als gevolg van onvoldoende hormonale stimulatie vanuit de hypothalamus-hypofyse-as.",
            "management": null,
            "evidence": {
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              "acmgSf": false,
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            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "non-acquired-combined-pituitary-hormone-deficiency",
        "name": "Niet-verworven gecombineerd hypofysehormoondeficiëntiesyndroom",
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          {
            "mondoId": "MONDO:0018762",
            "name": "Niet-verworven gecombineerd hypofysehormoondeficiëntiesyndroom",
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            "inheritance": null,
            "description": "Congenitaal hypopituïtarisme wordt gekenmerkt door een tekort aan meerdere hypofysehormonen, waaronder tekorten aan somatotrofe, thyreotrofe, lactotrofe, corticotrofe of gonadotrofe cellen, als gevolg van mutaties in hypofysetranscriptiefactoren die betrokken zijn bij de ontwikkeling van de hypofyse.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
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            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/non-acquired-combined-pituitary-hormone-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-response-to-acth-stimulation-test",
        "name": "Abnormal response to ACTH stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-response-to-acth-stimulation-test"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
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          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "adrenocorticotropin-deficient-adrenal-insufficiency",
        "name": "Adrenocorticotropin deficient adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenocorticotropin-deficient-adrenal-insufficiency"
      },
      {
        "slug": "melanocytic-nevus",
        "name": "Beauty mark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/melanocytic-nevus"
      },
      {
        "slug": "central-adrenal-insufficiency",
        "name": "Central adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/central-adrenal-insufficiency"
      },
      {
        "slug": "decreased-circulating-insulin-like-growth-factor-1-concentration",
        "name": "Decreased circulating insulin-like growth factor 1 concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-insulin-like-growth-factor-1-concentration"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
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          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "decreased-serum-testosterone-concentration",
        "name": "Decreased serum testosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-testosterone-concentration"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "spontaneous-tooth-loss",
        "name": "Early tooth loss",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spontaneous-tooth-loss"
      },
      {
        "slug": "gynecomastia",
        "name": "Enlarged male breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gynecomastia"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "flexural-reticulate-hyperpigmentation",
        "name": "Flexural reticulate hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/flexural-reticulate-hyperpigmentation"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hyperpigmented-nevi",
        "name": "Hyperpigmented nevi",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperpigmented-nevi"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "limb-joint-contracture",
        "name": "Limb contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limb-joint-contracture"
      },
      {
        "slug": "lipoatrophy",
        "name": "Loss of fat tissue in localized area",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lipoatrophy"
      },
      {
        "slug": "pituitary-hypothyroidism",
        "name": "Low thyroid gland function due to abnormal pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pituitary-hypothyroidism"
      },
      {
        "slug": "motor-neuron-atrophy",
        "name": "Motor neuron atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-neuron-atrophy"
      },
      {
        "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": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "motor-deterioration",
        "name": "Progressive degeneration of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-deterioration"
      },
      {
        "slug": "reduced-circulating-prolactin-concentration",
        "name": "Reduced circulating prolactin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-circulating-prolactin-concentration"
      },
      {
        "slug": "reduced-subcutaneous-adipose-tissue",
        "name": "Reduced fat tissue below the skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-pituitary-gland",
        "name": "Small pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-pituitary-gland"
      },
      {
        "slug": "ulnar-deviation-of-the-hand",
        "name": "Ulnar deviation of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-hand"
      },
      {
        "slug": "anterior-pituitary-hypoplasia",
        "name": "Underdeveloped pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anterior-pituitary-hypoplasia"
      },
      {
        "slug": "upper-motor-neuron-dysfunction",
        "name": "Upper motor neuron dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upper-motor-neuron-dysfunction"
      }
    ],
    "related": [
      {
        "slug": "lhx3",
        "symbol": "LHX3",
        "name": "LIM homeobox 3",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/lhx3"
      },
      {
        "slug": "lhx4",
        "symbol": "LHX4",
        "name": "LIM homeobox 4",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/lhx4"
      },
      {
        "slug": "anos1",
        "symbol": "ANOS1",
        "name": "anosmin 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/anos1"
      },
      {
        "slug": "arhgap35",
        "symbol": "ARHGAP35",
        "name": "Rho GTPase activating protein 35",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arhgap35"
      },
      {
        "slug": "cdon",
        "symbol": "CDON",
        "name": "cell adhesion associated, oncogene regulated",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cdon"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "name": "chromodomain helicase DNA binding protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/chd7"
      },
      {
        "slug": "cnot1",
        "symbol": "CNOT1",
        "name": "CCR4-NOT transcription complex subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cnot1"
      },
      {
        "slug": "cpe",
        "symbol": "CPE",
        "name": "carboxypeptidase E",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cpe"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dcaf17"
      },
      {
        "slug": "disp1",
        "symbol": "DISP1",
        "name": "dispatched RND transporter family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/disp1"
      },
      {
        "slug": "fezf1",
        "symbol": "FEZF1",
        "name": "FEZ family zinc finger 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/fezf1"
      },
      {
        "slug": "fgf17",
        "symbol": "FGF17",
        "name": "fibroblast growth factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/fgf17"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}