{
  "url": "https://dantelabs.com/de/genes/ikzf1",
  "gene": {
    "slug": "ikzf1",
    "symbol": "IKZF1",
    "name": "IKAROS family zinc finger 1",
    "hgnc": "HGNC:13176",
    "summary": null,
    "location": "7p12.2",
    "locusType": "gene with protein product",
    "aliases": [
      "hIk-1",
      "LyF-1",
      "Hs.54452",
      "IKAROS",
      "PPP1R92"
    ],
    "previousSymbols": [
      "ZNFN1A1"
    ],
    "ensemblId": "ENSG00000185811",
    "entrezId": 10320,
    "omim": [
      "603023"
    ],
    "uniprot": [
      "Q13422"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 50304716,
      "end": 50405101,
      "strand": "+",
      "ensemblTranscript": "ENST00000331340.8",
      "refseqTranscript": "NM_006060.6",
      "ensemblProtein": "ENSP00000331614.3",
      "refseqProtein": "NP_006051.1",
      "exons": [
        {
          "start": 50304716,
          "end": 50304922
        },
        {
          "start": 50319048,
          "end": 50319101
        },
        {
          "start": 50327638,
          "end": 50327757
        },
        {
          "start": 50376533,
          "end": 50376793
        },
        {
          "start": 50382540,
          "end": 50382707
        },
        {
          "start": 50387345,
          "end": 50387470
        },
        {
          "start": 50391729,
          "end": 50391863
        },
        {
          "start": 50399918,
          "end": 50405101
        }
      ],
      "cds": {
        "start": 50319062,
        "end": 50400627
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 50343720,
      "end": 50472799,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49854909,
      "end": 50854908,
      "genes": [
        {
          "symbol": "VWC2",
          "ensemblId": "ENSG00000188730",
          "biotype": "protein_coding",
          "start": 49772822,
          "end": 49921950,
          "strand": "+",
          "slug": "vwc2"
        },
        {
          "symbol": "ZPBP",
          "ensemblId": "ENSG00000042813",
          "biotype": "protein_coding",
          "start": 49850421,
          "end": 50121329,
          "strand": "-",
          "slug": "zpbp"
        },
        {
          "symbol": "SPMIP7",
          "ensemblId": "ENSG00000164500",
          "biotype": "protein_coding",
          "start": 50095883,
          "end": 50159256,
          "strand": "+",
          "slug": "spmip7"
        },
        {
          "symbol": "FIGNL1",
          "ensemblId": "ENSG00000132436",
          "biotype": "protein_coding",
          "start": 50439722,
          "end": 50450406,
          "strand": "-",
          "slug": "fignl1"
        },
        {
          "symbol": "DDC",
          "ensemblId": "ENSG00000132437",
          "biotype": "protein_coding",
          "start": 50458436,
          "end": 50565468,
          "strand": "-",
          "slug": "ddc"
        },
        {
          "symbol": "GRB10",
          "ensemblId": "ENSG00000106070",
          "biotype": "protein_coding",
          "start": 50590063,
          "end": 50793486,
          "strand": "-",
          "slug": "grb10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "common-variable-immunodeficiency",
        "name": "Common Variable Immunodeficiency (monogene CVID)",
        "diseases": [
          {
            "mondoId": "MONDO:0015517",
            "name": "Common Variable Immunodeficiency",
            "genes": 10,
            "inheritance": null,
            "description": "Niedriges IgG mit niedrigem IgA und/oder IgM sowie schlechtem Impfansprechen; monogene Formen umfassen NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 und TNFRSF13B (TACI).",
            "management": "Die Immunglobulin-Ersatztherapie und die frühzeitige Behandlung von Infektionen sind Standard; eine genetische Ursache kann die Überwachung auf Autoimmunität, Lymphome und Lungenerkrankungen leiten, und einige Formen (etwa der LRBA-Mangel) sprechen auf gezielte Therapien an.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/common-variable-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Sonstige angeborene Immundefekte",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Inborn error of immunity",
            "genes": 114,
            "inheritance": null,
            "description": "Erbliche Störungen des Immunsystems, die durch Veränderungen einzelner Gene verursacht werden und beeinflussen, wie der Körper Infektionen abwehrt oder Entzündungen reguliert.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Immundefekterkrankung",
            "genes": 170,
            "inheritance": null,
            "description": "Erkrankung, bei der ein Mangel oder Defekt der Immunmechanismen vorliegt, entweder zellulärer oder humoraler Art.",
            "management": "HSCT bei SCID und schweren PID; Immunglobulinsubstitution (IVIG/SCIG) bei Antikörpermangelerkrankungen; Leniolisib (Joenja, FDA 2023) bei APDS; Gentherapie bei ADA-SCID; Abatacept bei CTLA4/LRBA-Mangel; prophylaktische Antibiotika; G-CSF bei CGD",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-myocardium-morphology",
        "name": "Abnormal myocardium morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-myocardium-morphology"
      },
      {
        "slug": "abnormal-pleura-morphology",
        "name": "Abnormal pleura morphology",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pleura-morphology"
      },
      {
        "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": "acantholysis",
        "name": "Acantholysis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acantholysis"
      },
      {
        "slug": "acute-hepatic-failure",
        "name": "Acute liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-hepatic-failure"
      },
      {
        "slug": "acute-lymphoblastic-leukemia",
        "name": "Acute lymphoblastic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-lymphoblastic-leukemia"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "combined-immunodeficiency",
        "name": "Combined immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/combined-immunodeficiency"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dysuria",
        "name": "Dull burning sensation with urination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysuria"
      },
      {
        "slug": "dyspareunia",
        "name": "Dyspareunia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspareunia"
      },
      {
        "slug": "excessive-salivation",
        "name": "Excessive salivation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/excessive-salivation"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "entropion",
        "name": "Eyelid folded in",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/entropion"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypokalemic-metabolic-alkalosis",
        "name": "Hypokalemic metabolic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypokalemic-metabolic-alkalosis"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "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": "esophageal-stricture",
        "name": "Narrowing of esophagus due to inflammation and scar tissue",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-stricture"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      },
      {
        "slug": "abnormality-of-the-urethra",
        "name": "Urethra issue",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-urethra"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "cd19",
        "symbol": "CD19",
        "name": "CD19 molecule",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/cd19"
      },
      {
        "slug": "cr2",
        "symbol": "CR2",
        "name": "complement C3d receptor 2",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/cr2"
      },
      {
        "slug": "icos",
        "symbol": "ICOS",
        "name": "inducible T cell costimulator",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/icos"
      },
      {
        "slug": "irf2bp2",
        "symbol": "IRF2BP2",
        "name": "interferon regulatory factor 2 binding protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/irf2bp2"
      },
      {
        "slug": "lrba",
        "symbol": "LRBA",
        "name": "LPS responsive beige-like anchor protein",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/lrba"
      },
      {
        "slug": "nfkb1",
        "symbol": "NFKB1",
        "name": "nuclear factor kappa B subunit 1",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/nfkb1"
      },
      {
        "slug": "nfkb2",
        "symbol": "NFKB2",
        "name": "nuclear factor kappa B subunit 2",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/nfkb2"
      },
      {
        "slug": "sec61a1",
        "symbol": "SEC61A1",
        "name": "SEC61 translocon subunit alpha 1",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/sec61a1"
      },
      {
        "slug": "tnfrsf13b",
        "symbol": "TNFRSF13B",
        "name": "TNF receptor superfamily member 13B",
        "shared": 3,
        "url": "https://dantelabs.com/de/genes/tnfrsf13b"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/de/genes/bcl10"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}