{
  "url": "https://dantelabs.com/de/genes/srp72",
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    "reports": [
      {
        "slug": "rare-inherited-bone-marrow-failure-syndromes",
        "name": "Seltene erbliche Knochenmarkversagen-Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0000159",
            "name": "Knochenmarkversagen-Syndrom",
            "genes": 5,
            "inheritance": null,
            "description": "Eine Gruppe seltener Erkrankungen, die mit Genen wie DNAJC21, MYSM1 und SRP72 sowie mit einem kombinierten ADH5- und ALDH2-Mangel (AMED-Syndrom) in Zusammenhang stehen und zu niedrigen Blutwerten führen, teilweise mit Entwicklungsauffälligkeiten oder anderen Merkmalen.",
            "management": "Eine Diagnose unterstützt die Auswahl verwandter Stammzellspender und die Vorbereitung einer Transplantation und ermöglicht die Überwachung auf ein myelodysplastisches Syndrom und eine Leukämie.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
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              "acmgSf": false,
              "inheritance": [
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            },
            "sameAsReport": false,
            "broad": false
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        ],
        "url": "https://dantelabs.com/de/conditions/rare-inherited-bone-marrow-failure-syndromes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aplastic-anemia",
        "name": "Aplastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplastic-anemia"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "adh5",
        "symbol": "ADH5",
        "name": "alcohol dehydrogenase 5 (class III), chi polypeptide",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/adh5"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dnajc21"
      },
      {
        "slug": "ercc6l2",
        "symbol": "ERCC6L2",
        "name": "ERCC excision repair 6 like 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ercc6l2"
      },
      {
        "slug": "mysm1",
        "symbol": "MYSM1",
        "name": "Myb like, SWIRM and MPN domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/mysm1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}