{
  "url": "https://dantelabs.com/sv/genes/ikzf5",
  "gene": {
    "slug": "ikzf5",
    "symbol": "IKZF5",
    "name": "IKAROS family zinc finger 5",
    "hgnc": "HGNC:14283",
    "summary": null,
    "location": "10q26.13",
    "locusType": "gene with protein product",
    "aliases": [
      "Pegasus",
      "FLJ22973"
    ],
    "previousSymbols": [
      "ZNFN1A5"
    ],
    "ensemblId": "ENSG00000095574",
    "entrezId": 64376,
    "omim": [
      "606238"
    ],
    "uniprot": [
      "Q9H5V7"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 122990807,
      "end": 123008795,
      "strand": "-",
      "ensemblTranscript": "ENST00000368886.10",
      "refseqTranscript": "NM_001372123.1",
      "ensemblProtein": "ENSP00000357881.5",
      "refseqProtein": "NP_001359052.1",
      "exons": [
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          "start": 122990807,
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        {
          "start": 122995994,
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        {
          "start": 122998493,
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        {
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      ],
      "cds": {
        "start": 122993780,
        "end": 122998625
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 124750322,
      "end": 124768333,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 122499801,
      "end": 123499800,
      "genes": [
        {
          "symbol": "HTRA1",
          "ensemblId": "ENSG00000166033",
          "biotype": "protein_coding",
          "start": 122458551,
          "end": 122516001,
          "strand": "+",
          "slug": "htra1"
        },
        {
          "symbol": "DMBT1",
          "ensemblId": "ENSG00000187908",
          "biotype": "protein_coding",
          "start": 122560641,
          "end": 122643740,
          "strand": "+",
          "slug": "dmbt1"
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        {
          "symbol": "SPADH",
          "ensemblId": "ENSG00000286135",
          "biotype": "protein_coding",
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          "end": 122679494,
          "strand": "+",
          "slug": "spadh"
        },
        {
          "symbol": "C10orf120",
          "ensemblId": "ENSG00000183559",
          "biotype": "protein_coding",
          "start": 122697709,
          "end": 122699846,
          "strand": "-",
          "slug": "c10orf120"
        },
        {
          "symbol": "CUZD1",
          "ensemblId": "ENSG00000138161",
          "biotype": "protein_coding",
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          "end": 122846175,
          "strand": "-",
          "slug": "cuzd1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286088",
          "biotype": "protein_coding",
          "start": 122832167,
          "end": 122879583,
          "strand": "-"
        },
        {
          "symbol": "FAM24B",
          "ensemblId": "ENSG00000213185",
          "biotype": "protein_coding",
          "start": 122849078,
          "end": 122879641,
          "strand": "-",
          "slug": "fam24b"
        },
        {
          "symbol": "FAM24A",
          "ensemblId": "ENSG00000203795",
          "biotype": "protein_coding",
          "start": 122910604,
          "end": 122913111,
          "strand": "+",
          "slug": "fam24a"
        },
        {
          "symbol": "C10orf88",
          "ensemblId": "ENSG00000119965",
          "biotype": "protein_coding",
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          "end": 122954337,
          "strand": "-",
          "slug": "c10orf88"
        },
        {
          "symbol": "PSTK",
          "ensemblId": "ENSG00000179988",
          "biotype": "protein_coding",
          "start": 122954381,
          "end": 122997513,
          "strand": "+",
          "slug": "pstk"
        },
        {
          "symbol": "ACADSB",
          "ensemblId": "ENSG00000196177",
          "biotype": "protein_coding",
          "start": 123008972,
          "end": 123058300,
          "strand": "+",
          "slug": "acadsb"
        },
        {
          "symbol": "HMX3",
          "ensemblId": "ENSG00000188620",
          "biotype": "protein_coding",
          "start": 123135957,
          "end": 123139423,
          "strand": "+",
          "slug": "hmx3"
        },
        {
          "symbol": "HMX2",
          "ensemblId": "ENSG00000188816",
          "biotype": "protein_coding",
          "start": 123142401,
          "end": 123150672,
          "strand": "+",
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        },
        {
          "symbol": "BUB3",
          "ensemblId": "ENSG00000154473",
          "biotype": "protein_coding",
          "start": 123154365,
          "end": 123313144,
          "strand": "+",
          "slug": "bub3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-thrombocytopenias",
        "name": "Ärftlig trombocytopeni",
        "diseases": [
          {
            "mondoId": "MONDO:0100241",
            "name": "Ärftlig trombocytopeni",
            "genes": 33,
            "inheritance": null,
            "description": "En grupp tillstånd som orsakar ett livslångt lågt antal trombocyter, kopplade till gener som MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 och MECOM, och som ärvs dominant, recessivt eller X-bundet.",
            "management": "En genetisk diagnos förhindrar att tillståndet felaktigt bedöms som immun trombocytopeni, vilket kan leda till onödig behandling med steroider eller borttagning av mjälten, och vägleder uppföljning av relaterade problem i njurar, hörsel eller blod.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/inherited-thrombocytopenias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "post-partum-hemorrhage",
        "name": "Bleeding post-delivery",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/post-partum-hemorrhage"
      },
      {
        "slug": "impaired-adp-induced-platelet-aggregation",
        "name": "Impaired ADP-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-adp-induced-platelet-aggregation"
      },
      {
        "slug": "impaired-arachidonic-acid-induced-platelet-aggregation",
        "name": "Impaired arachidonic acid-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-arachidonic-acid-induced-platelet-aggregation"
      },
      {
        "slug": "impaired-collagen-induced-platelet-aggregation",
        "name": "Impaired collagen-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-collagen-induced-platelet-aggregation"
      },
      {
        "slug": "impaired-ristocetin-induced-platelet-aggregation",
        "name": "Impaired ristocetin-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-ristocetin-induced-platelet-aggregation"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "reduced-platelet-alpha-granules",
        "name": "Reduced platelet alpha granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-platelet-alpha-granules"
      },
      {
        "slug": "reduced-platelet-dense-granules",
        "name": "Reduced platelet dense granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-platelet-dense-granules"
      }
    ],
    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/actb"
      },
      {
        "slug": "actn1",
        "symbol": "ACTN1",
        "name": "actinin alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/actn1"
      },
      {
        "slug": "adamts13",
        "symbol": "ADAMTS13",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/adamts13"
      },
      {
        "slug": "ankrd26",
        "symbol": "ANKRD26",
        "name": "ankyrin repeat domain 26",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ankrd26"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/arpc1b"
      },
      {
        "slug": "cdc42",
        "symbol": "CDC42",
        "name": "cell division cycle 42",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cdc42"
      },
      {
        "slug": "cycs",
        "symbol": "CYCS",
        "name": "cytochrome c, somatic",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cycs"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/diaph1"
      },
      {
        "slug": "etv6",
        "symbol": "ETV6",
        "name": "ETS variant transcription factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/etv6"
      },
      {
        "slug": "fli1",
        "symbol": "FLI1",
        "name": "Fli-1 proto-oncogene, ETS transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fli1"
      },
      {
        "slug": "fyb1",
        "symbol": "FYB1",
        "name": "FYN binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fyb1"
      },
      {
        "slug": "gale",
        "symbol": "GALE",
        "name": "UDP-galactose-4-epimerase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gale"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}