{
  "url": "https://dantelabs.com/pt/genes/zbtb24",
  "gene": {
    "slug": "zbtb24",
    "symbol": "ZBTB24",
    "name": "zinc finger and BTB domain containing 24",
    "hgnc": "HGNC:21143",
    "summary": null,
    "location": "6q21",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA0441",
      "BIF1",
      "PATZ2"
    ],
    "previousSymbols": [
      "ZNF450"
    ],
    "ensemblId": "ENSG00000112365",
    "entrezId": 9841,
    "omim": [
      "614064"
    ],
    "uniprot": [
      "O43167"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 109462594,
      "end": 109483219,
      "strand": "-",
      "ensemblTranscript": "ENST00000230122.4",
      "refseqTranscript": "NM_014797.3",
      "ensemblProtein": "ENSP00000230122.4",
      "refseqProtein": "NP_055612.2",
      "exons": [
        {
          "start": 109462594,
          "end": 109466574
        },
        {
          "start": 109467653,
          "end": 109467734
        },
        {
          "start": 109475399,
          "end": 109475482
        },
        {
          "start": 109476175,
          "end": 109476258
        },
        {
          "start": 109476763,
          "end": 109476930
        },
        {
          "start": 109481075,
          "end": 109482054
        },
        {
          "start": 109483098,
          "end": 109483219
        }
      ],
      "cds": {
        "start": 109465851,
        "end": 109482026
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 109783797,
      "end": 109804440,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 108972907,
      "end": 109972906,
      "genes": [
        {
          "symbol": "ARMC2",
          "ensemblId": "ENSG00000118690",
          "biotype": "protein_coding",
          "start": 108841937,
          "end": 108974551,
          "strand": "+",
          "slug": "armc2"
        },
        {
          "symbol": "SESN1",
          "ensemblId": "ENSG00000080546",
          "biotype": "protein_coding",
          "start": 108984309,
          "end": 109095097,
          "strand": "-",
          "slug": "sesn1"
        },
        {
          "symbol": "CEP57L1",
          "ensemblId": "ENSG00000183137",
          "biotype": "protein_coding",
          "start": 109095105,
          "end": 109174418,
          "strand": "+",
          "slug": "cep57l1"
        },
        {
          "symbol": "CD164",
          "ensemblId": "ENSG00000135535",
          "biotype": "protein_coding",
          "start": 109307627,
          "end": 109382536,
          "strand": "-",
          "slug": "cd164"
        },
        {
          "symbol": "PPIL6",
          "ensemblId": "ENSG00000185250",
          "biotype": "protein_coding",
          "start": 109390215,
          "end": 109441171,
          "strand": "-",
          "slug": "ppil6"
        },
        {
          "symbol": "SMPD2",
          "ensemblId": "ENSG00000135587",
          "biotype": "protein_coding",
          "start": 109440678,
          "end": 109446515,
          "strand": "+",
          "slug": "smpd2"
        },
        {
          "symbol": "MICAL1",
          "ensemblId": "ENSG00000135596",
          "biotype": "protein_coding",
          "start": 109444062,
          "end": 109465968,
          "strand": "-",
          "slug": "mical1"
        },
        {
          "symbol": "AK9",
          "ensemblId": "ENSG00000155085",
          "biotype": "protein_coding",
          "start": 109492855,
          "end": 109691229,
          "strand": "-",
          "slug": "ak9"
        },
        {
          "symbol": "FIG4",
          "ensemblId": "ENSG00000112367",
          "biotype": "protein_coding",
          "start": 109690609,
          "end": 109878098,
          "strand": "+",
          "slug": "fig4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dyskeratosis-congenita",
        "name": "Disqueratose Congénita",
        "diseases": [
          {
            "mondoId": "MONDO:0100137",
            "name": "Síndromes de telómeros",
            "genes": 16,
            "inheritance": null,
            "description": "Perturbações dos telómeros curtos causadas por variantes em genes de manutenção dos telómeros, como TERT, TERC, RTEL1 e PARN, que podem provocar insuficiência da medula óssea, fibrose pulmonar e doença hepática, mesmo sem sinais cutâneos clássicos.",
            "management": "Recomenda-se a monitorização das contagens sanguíneas, dos pulmões e do fígado, e o diagnóstico orienta a escolha do dador e as opções de tratamento para o transplante de células-tronco.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/dyskeratosis-congenita"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-chromosome-stability",
        "name": "Abnormality of chromosome stability",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-chromosome-stability"
      },
      {
        "slug": "abnormality-of-neutrophils",
        "name": "Abnormality of neutrophils",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neutrophils"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "cellular-immunodeficiency",
        "name": "Cellular immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cellular-immunodeficiency"
      },
      {
        "slug": "chronic-bronchitis",
        "name": "Chronic bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/chronic-bronchitis"
      },
      {
        "slug": "communicating-hydrocephalus",
        "name": "Communicating hydrocephalus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/communicating-hydrocephalus"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "pneumocystis-jirovecii-pneumonia",
        "name": "Pneumocystis jirovecii pneumonia",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumocystis-jirovecii-pneumonia"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "protruding-tongue",
        "name": "Protruding tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-tongue"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "recurrent-candida-infection",
        "name": "Recurrent Candida infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-candida-infection"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "short-chin",
        "name": "Short chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-chin"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "acd",
        "symbol": "ACD",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/acd"
      },
      {
        "slug": "cdca7",
        "symbol": "CDCA7",
        "name": "cell division cycle associated 7",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/cdca7"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "name": "CST telomere replication complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/ctc1"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "name": "DNA methyltransferase 3 beta",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/dnmt3b"
      },
      {
        "slug": "hells",
        "symbol": "HELLS",
        "name": "helicase, lymphoid specific",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/hells"
      },
      {
        "slug": "naf1",
        "symbol": "NAF1",
        "name": "nuclear assembly factor 1 ribonucleoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/naf1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "name": "poly(A)-specific ribonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/parn"
      },
      {
        "slug": "pola2",
        "symbol": "POLA2",
        "name": "DNA polymerase alpha 2, accessory subunit",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/pola2"
      },
      {
        "slug": "pot1",
        "symbol": "POT1",
        "name": "protection of telomeres 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/pot1"
      },
      {
        "slug": "rpa1",
        "symbol": "RPA1",
        "name": "replication protein A1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/rpa1"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "name": "regulator of telomere elongation helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/rtel1"
      },
      {
        "slug": "stn1",
        "symbol": "STN1",
        "name": "STN1 subunit of CST complex",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/stn1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}