{
  "url": "https://dantelabs.com/no/genes/srp54",
  "gene": {
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    "reports": [
      {
        "slug": "severe-congenital-neutropenia",
        "name": "Alvorlig medfødt nøytropeni",
        "diseases": [
          {
            "mondoId": "MONDO:0018542",
            "name": "Alvorlig medfødt nøytropeni",
            "genes": 10,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
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              "acmgSf": false,
              "inheritance": [
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            "sameAsReport": true,
            "broad": false
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        ],
        "url": "https://dantelabs.com/no/conditions/severe-congenital-neutropenia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
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        "name": "Acute myeloid leukemia",
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          "abnormality-of-the-immune-system",
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        ],
        "url": "https://dantelabs.com/traits/acute-myeloid-leukemia"
      },
      {
        "slug": "anterior-rib-cupping",
        "name": "Anterior rib cupping",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anterior-rib-cupping"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "bone-marrow-arrest-at-the-promyelocytic-stage",
        "name": "Bone marrow arrest at the promyelocytic stage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-marrow-arrest-at-the-promyelocytic-stage"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "enlargement-of-the-costochondral-junction",
        "name": "Enlargement of the costochondral junction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/enlargement-of-the-costochondral-junction"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "exocrine-pancreatic-insufficiency",
        "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency"
      },
      {
        "slug": "metaphyseal-sclerosis",
        "name": "Increased bone density in wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-sclerosis"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "irregular-ossification-at-anterior-rib-ends",
        "name": "Irregular ossification at anterior rib ends",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-ossification-at-anterior-rib-ends"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "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": "metaphyseal-chondrodysplasia",
        "name": "Metaphyseal chondrodysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-chondrodysplasia"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "myocardial-necrosis",
        "name": "Myocardial necrosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/myocardial-necrosis"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "narrow-greater-sciatic-notch",
        "name": "Narrow greater sciatic notch",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/narrow-greater-sciatic-notch"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "ovoid-vertebral-bodies",
        "name": "Ovoid vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ovoid-vertebral-bodies"
      },
      {
        "slug": "persistence-of-hemoglobin-f",
        "name": "Persistence of hemoglobin F",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/persistence-of-hemoglobin-f"
      },
      {
        "slug": "proximal-femoral-metaphyseal-irregularity",
        "name": "Proximal femoral metaphyseal irregularity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-femoral-metaphyseal-irregularity"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "proximal-femoral-epiphysiolysis",
        "name": "Slipped end part of innermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-femoral-epiphysiolysis"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      }
    ],
    "related": [
      {
        "slug": "clpb",
        "symbol": "CLPB",
        "name": "ClpB family mitochondrial disaggregase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/clpb"
      },
      {
        "slug": "csf3r",
        "symbol": "CSF3R",
        "name": "colony stimulating factor 3 receptor",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/csf3r"
      },
      {
        "slug": "cxcr2",
        "symbol": "CXCR2",
        "name": "C-X-C motif chemokine receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cxcr2"
      },
      {
        "slug": "g6pc3",
        "symbol": "G6PC3",
        "name": "glucose-6-phosphatase catalytic subunit 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/g6pc3"
      },
      {
        "slug": "gfi1",
        "symbol": "GFI1",
        "name": "growth factor independent 1 transcriptional repressor",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gfi1"
      },
      {
        "slug": "hax1",
        "symbol": "HAX1",
        "name": "HCLS1 associated protein X-1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/hax1"
      },
      {
        "slug": "jagn1",
        "symbol": "JAGN1",
        "name": "jagunal vesicle mediated transporter 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/jagn1"
      },
      {
        "slug": "vps45",
        "symbol": "VPS45",
        "name": "vacuolar protein sorting 45 homolog",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/vps45"
      },
      {
        "slug": "was",
        "symbol": "WAS",
        "name": "WASP actin nucleation promoting factor",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/was"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}