{
  "url": "https://dantelabs.com/genes/slf2",
  "gene": {
    "slug": "slf2",
    "symbol": "SLF2",
    "name": "SMC5/6 complex localization factor 2",
    "hgnc": "HGNC:17814",
    "summary": null,
    "location": "10q24.31",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ10512",
      "FLJ25012",
      "hNSE6"
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      "C10orf6",
      "FAM178A"
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    "entrezId": 55719,
    "omim": [
      "610348"
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    "uniprot": [
      "Q8IX21"
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      "refseqTranscript": "NM_018121.4",
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    },
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          "symbol": "WNT8B",
          "ensemblId": "ENSG00000075290",
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        },
        {
          "symbol": "SEC31B",
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        {
          "symbol": "",
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        {
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        {
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        {
          "symbol": "PAX2",
          "ensemblId": "ENSG00000075891",
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        {
          "symbol": "MRPL43",
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          "strand": "-",
          "slug": "mrpl43"
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        {
          "symbol": "SEMA4G",
          "ensemblId": "ENSG00000095539",
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          "strand": "+",
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        {
          "symbol": "TWNK",
          "ensemblId": "ENSG00000107815",
          "biotype": "protein_coding",
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          "slug": "twnk"
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        {
          "symbol": "LZTS2",
          "ensemblId": "ENSG00000107816",
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        {
          "symbol": "PDZD7",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "pdzd7"
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        {
          "symbol": "SFXN3",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "KAZALD1",
          "ensemblId": "ENSG00000107821",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "kazald1"
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        {
          "symbol": "TLX1",
          "ensemblId": "ENSG00000107807",
          "biotype": "protein_coding",
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        {
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          "end": 101230401,
          "strand": "-",
          "slug": "lbx1"
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        {
          "symbol": "BTRC",
          "ensemblId": "ENSG00000166167",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "btrc"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "mosaic-variegated-aneuploidy-syndrome",
        "name": "Mosaic Variegated Aneuploidy Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0000141",
            "name": "Mosaic variegated aneuploidy syndrome",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Mosaic gains and losses of whole chromosomes with growth restriction, microcephaly and an increased risk of rhabdomyosarcoma, Wilms tumour and leukaemia.",
            "management": "Childhood cancer surveillance for affected children; carriers have no expected health effects.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/mosaic-variegated-aneuploidy-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "basilar-invagination",
        "name": "Basilar invagination",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/basilar-invagination"
      },
      {
        "slug": "cafe-au-lait-spot",
        "name": "Birthmark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cafe-au-lait-spot"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "decreased-anti-cd3-28-induced-t-cell-proliferation",
        "name": "Decreased anti-CD3/28-induced T-cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-anti-cd3-28-induced-t-cell-proliferation"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glue-ear",
        "name": "Glue ear",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glue-ear"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "irregular-hyperpigmentation",
        "name": "Irregular hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irregular-hyperpigmentation"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "prominent-nose",
        "name": "Prominent nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-nose"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "lumbar-kyphosis",
        "name": "Rounded lower back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lumbar-kyphosis"
      },
      {
        "slug": "short-chin",
        "name": "Short chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-chin"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      }
    ],
    "related": [
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/bub1b"
      },
      {
        "slug": "cep57",
        "symbol": "CEP57",
        "name": "centrosomal protein 57",
        "shared": 1,
        "url": "https://dantelabs.com/genes/cep57"
      },
      {
        "slug": "smc5",
        "symbol": "SMC5",
        "name": "structural maintenance of chromosomes 5",
        "shared": 1,
        "url": "https://dantelabs.com/genes/smc5"
      },
      {
        "slug": "trip13",
        "symbol": "TRIP13",
        "name": "thyroid hormone receptor interactor 13",
        "shared": 1,
        "url": "https://dantelabs.com/genes/trip13"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}