{
  "url": "https://dantelabs.com/nl/genes/slc39a7",
  "gene": {
    "slug": "slc39a7",
    "symbol": "SLC39A7",
    "name": "solute carrier family 39 member 7",
    "hgnc": "HGNC:4927",
    "summary": null,
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      "H2-KE4",
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      "HKE4"
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    "omim": [
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    "uniprot": [
      "Q92504"
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        {
          "symbol": "COL11A2",
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        {
          "symbol": "RXRB",
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        {
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        {
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        {
          "symbol": "B3GALT4",
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        {
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        {
          "symbol": "RGL2",
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        {
          "symbol": "TAPBP",
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        {
          "symbol": "ZBTB22",
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        {
          "symbol": "DAXX",
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        {
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        {
          "symbol": "SMIM40",
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        {
          "symbol": "KIFC1",
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        {
          "symbol": "PHF1",
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        {
          "symbol": "CUTA",
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        },
        {
          "symbol": "SYNGAP1",
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          "biotype": "protein_coding",
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          "slug": "syngap1"
        },
        {
          "symbol": "ZBTB9",
          "ensemblId": "ENSG00000213588",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "zbtb9"
        },
        {
          "symbol": "BAK1",
          "ensemblId": "ENSG00000030110",
          "biotype": "protein_coding",
          "start": 33568791,
          "end": 33580305,
          "strand": "-",
          "slug": "bak1"
        },
        {
          "symbol": "ITPR3",
          "ensemblId": "ENSG00000096433",
          "biotype": "protein_coding",
          "start": 33620331,
          "end": 33696575,
          "strand": "+",
          "slug": "itpr3"
        },
        {
          "symbol": "UQCC2",
          "ensemblId": "ENSG00000137288",
          "biotype": "protein_coding",
          "start": 33690635,
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          "strand": "-",
          "slug": "uqcc2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "agammaglobulinemia",
        "name": "Agammaglobulinemie (XLA en autosomale vormen)",
        "diseases": [
          {
            "mondoId": "MONDO:0030519",
            "name": "Agammaglobulinemie 9 (SLC39A7)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Afwezige B-cellen en antistoftekort door veranderingen in het zinktransportgen SLC39A7.",
            "management": "Levenslange vervangende toediening van immunoglobulinen, snelle behandeling van infecties en het vermijden van levende vaccins voorkomen de meeste ernstige complicaties.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/agammaglobulinemia"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Overige aangeboren immuunstoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Aangeboren immuundeficiëntie",
            "genes": 114,
            "inheritance": null,
            "description": "Erfelijke aandoeningen van het immuunsysteem die worden veroorzaakt door veranderingen in één gen en die invloed hebben op hoe het lichaam infecties bestrijdt of ontstekingen reguleert.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immuundeficiëntieziekte",
            "genes": 170,
            "inheritance": null,
            "description": "Ziekte waarbij er een tekort of defect is in de mechanismen van de immuniteit, zowel cellulair als humoraal.",
            "management": "HSCT bij SCID en ernstige PID's; immunoglobulinevervangende therapie (IVIG/SCIG) bij antilichaamdeficiënties; leniolisib (Joenja, FDA 2023) bij APDS; genetherapie bij ADA-SCID; abatacept bij CTLA4- of LRBA-deficiëntie; profylactische antibiotica; G-CSF bij CGD",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-circulating-b-cells",
        "name": "Absent circulating B cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-circulating-b-cells"
      },
      {
        "slug": "agammaglobulinemia",
        "name": "Agammaglobulinemia",
        "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/agammaglobulinemia"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "seborrheic-dermatitis",
        "name": "Seborrheic dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seborrheic-dermatitis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c1qc"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c1s"
      },
      {
        "slug": "c2",
        "symbol": "C2",
        "name": "complement C2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c2"
      },
      {
        "slug": "c3",
        "symbol": "C3",
        "name": "complement C3",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/c3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}