{
  "url": "https://dantelabs.com/nl/genes/hmx1",
  "gene": {
    "slug": "hmx1",
    "symbol": "HMX1",
    "name": "H6 family homeobox 1",
    "hgnc": "HGNC:5017",
    "summary": null,
    "location": "4p16.1",
    "locusType": "gene with protein product",
    "aliases": [
      "H6",
      "NKX5-3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000215612",
    "entrezId": 3166,
    "omim": [
      "142992"
    ],
    "uniprot": [
      "Q9NP08"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 8867048,
      "end": 8871839,
      "strand": "-",
      "ensemblTranscript": "ENST00000400677.5",
      "refseqTranscript": "NM_018942.3",
      "ensemblProtein": "ENSP00000383516.3",
      "refseqProtein": "NP_061815.2",
      "exons": [
        {
          "start": 8867048,
          "end": 8868345
        },
        {
          "start": 8871221,
          "end": 8871839
        }
      ],
      "cds": {
        "start": 8867693,
        "end": 8871614
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 8847802,
      "end": 8873543,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 8369444,
      "end": 9369443,
      "genes": [
        {
          "symbol": "ACOX3",
          "ensemblId": "ENSG00000087008",
          "biotype": "protein_coding",
          "start": 8364703,
          "end": 8440750,
          "strand": "-",
          "slug": "acox3"
        },
        {
          "symbol": "TRMT44",
          "ensemblId": "ENSG00000155275",
          "biotype": "protein_coding",
          "start": 8436140,
          "end": 8496273,
          "strand": "+",
          "slug": "trmt44"
        },
        {
          "symbol": "GPR78",
          "ensemblId": "ENSG00000155269",
          "biotype": "protein_coding",
          "start": 8558725,
          "end": 8619761,
          "strand": "+",
          "slug": "gpr78"
        },
        {
          "symbol": "CPZ",
          "ensemblId": "ENSG00000109625",
          "biotype": "protein_coding",
          "start": 8592638,
          "end": 8619761,
          "strand": "+",
          "slug": "cpz"
        },
        {
          "symbol": "FAM90A26",
          "ensemblId": "ENSG00000229924",
          "biotype": "protein_coding",
          "start": 9170409,
          "end": 9176730,
          "strand": "+",
          "slug": "fam90a26"
        },
        {
          "symbol": "USP17L10",
          "ensemblId": "ENSG00000231396",
          "biotype": "protein_coding",
          "start": 9210657,
          "end": 9212249,
          "strand": "+",
          "slug": "usp17l10"
        },
        {
          "symbol": "USP17L11",
          "ensemblId": "ENSG00000233136",
          "biotype": "protein_coding",
          "start": 9215405,
          "end": 9216997,
          "strand": "+",
          "slug": "usp17l11"
        },
        {
          "symbol": "USP17L12",
          "ensemblId": "ENSG00000227551",
          "biotype": "protein_coding",
          "start": 9220152,
          "end": 9221744,
          "strand": "+",
          "slug": "usp17l12"
        },
        {
          "symbol": "USP17L13",
          "ensemblId": "ENSG00000232399",
          "biotype": "protein_coding",
          "start": 9224896,
          "end": 9226488,
          "strand": "+",
          "slug": "usp17l13"
        },
        {
          "symbol": "USP17L15",
          "ensemblId": "ENSG00000223569",
          "biotype": "protein_coding",
          "start": 9234385,
          "end": 9236046,
          "strand": "+",
          "slug": "usp17l15"
        },
        {
          "symbol": "USP17L17",
          "ensemblId": "ENSG00000249104",
          "biotype": "protein_coding",
          "start": 9243879,
          "end": 9245471,
          "strand": "+",
          "slug": "usp17l17"
        },
        {
          "symbol": "USP17L18",
          "ensemblId": "ENSG00000250844",
          "biotype": "protein_coding",
          "start": 9248630,
          "end": 9250222,
          "strand": "+",
          "slug": "usp17l18"
        },
        {
          "symbol": "USP17L19",
          "ensemblId": "ENSG00000248920",
          "biotype": "protein_coding",
          "start": 9253378,
          "end": 9254970,
          "strand": "+",
          "slug": "usp17l19"
        },
        {
          "symbol": "USP17L20",
          "ensemblId": "ENSG00000250745",
          "biotype": "protein_coding",
          "start": 9258124,
          "end": 9259716,
          "strand": "+",
          "slug": "usp17l20"
        },
        {
          "symbol": "USP17L21",
          "ensemblId": "ENSG00000249811",
          "biotype": "protein_coding",
          "start": 9262872,
          "end": 9264464,
          "strand": "+",
          "slug": "usp17l21"
        },
        {
          "symbol": "USP17L22",
          "ensemblId": "ENSG00000248933",
          "biotype": "protein_coding",
          "start": 9267619,
          "end": 9269211,
          "strand": "+",
          "slug": "usp17l22"
        },
        {
          "symbol": "USP17L23",
          "ensemblId": "ENSG00000250913",
          "biotype": "protein_coding",
          "start": 9272364,
          "end": 9272914,
          "strand": "+",
          "slug": "usp17l23"
        },
        {
          "symbol": "USP17L24",
          "ensemblId": "ENSG00000232264",
          "biotype": "protein_coding",
          "start": 9325165,
          "end": 9326757,
          "strand": "+",
          "slug": "usp17l24"
        },
        {
          "symbol": "USP17L25",
          "ensemblId": "ENSG00000230430",
          "biotype": "protein_coding",
          "start": 9329911,
          "end": 9331503,
          "strand": "+",
          "slug": "usp17l25"
        },
        {
          "symbol": "USP17L26",
          "ensemblId": "ENSG00000229579",
          "biotype": "protein_coding",
          "start": 9334658,
          "end": 9336250,
          "strand": "+",
          "slug": "usp17l26"
        },
        {
          "symbol": "USP17L5",
          "ensemblId": "ENSG00000227140",
          "biotype": "protein_coding",
          "start": 9339403,
          "end": 9340995,
          "strand": "+",
          "slug": "usp17l5"
        },
        {
          "symbol": "USP17L27",
          "ensemblId": "ENSG00000235780",
          "biotype": "protein_coding",
          "start": 9344148,
          "end": 9345740,
          "strand": "+",
          "slug": "usp17l27"
        },
        {
          "symbol": "USP17L28",
          "ensemblId": "ENSG00000231051",
          "biotype": "protein_coding",
          "start": 9348893,
          "end": 9350485,
          "strand": "+",
          "slug": "usp17l28"
        },
        {
          "symbol": "USP17L29",
          "ensemblId": "ENSG00000231637",
          "biotype": "protein_coding",
          "start": 9353638,
          "end": 9355230,
          "strand": "+",
          "slug": "usp17l29"
        },
        {
          "symbol": "USP17L30",
          "ensemblId": "ENSG00000228856",
          "biotype": "protein_coding",
          "start": 9363129,
          "end": 9364721,
          "strand": "+",
          "slug": "usp17l30"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "microphthalmia-anophthalmia-coloboma",
        "name": "Microftalmie, anoftalmie en coloboom",
        "diseases": [
          {
            "mondoId": "MONDO:0016073",
            "name": "Syndromale microftalmie",
            "genes": 19,
            "inheritance": null,
            "description": "Microftalmie die samengaat met kenmerken buiten het oog, veroorzaakt door veranderingen in genen zoals SOX2, OTX2, BCOR, STRA6 en BMP4.",
            "management": "Een genetische diagnose stuurt de controles op bijbehorende kenmerken, zoals problemen met hypofysehormonen bij SOX2 of OTX2, en geeft inzicht in het herhalingsrisico.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/microphthalmia-anophthalmia-coloboma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "absent-earlobe",
        "name": "Absent earlobe",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-earlobe"
      },
      {
        "slug": "chorioretinal-coloboma",
        "name": "Birth defect that causes a hole in the innermost layer at the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-coloboma"
      },
      {
        "slug": "nasolacrimal-duct-obstruction",
        "name": "Blocked tear duct",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasolacrimal-duct-obstruction"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "cone-cone-rod-dystrophy",
        "name": "Cone/cone-rod dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy"
      },
      {
        "slug": "congenital-nystagmus",
        "name": "Congenital nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-nystagmus"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "exodeviation",
        "name": "Exodeviation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exodeviation"
      },
      {
        "slug": "sclerocornea",
        "name": "Hardening of skin and connective tissue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sclerocornea"
      },
      {
        "slug": "ocular-hypertension",
        "name": "High eye pressure",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ocular-hypertension"
      },
      {
        "slug": "retinal-coloboma",
        "name": "Hole in the back of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-coloboma"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iris-cyst",
        "name": "Iris cyst",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-cyst"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "macular-hypoplasia",
        "name": "Macular hypoplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macular-hypoplasia"
      },
      {
        "slug": "morning-glory-anomaly",
        "name": "Morning glory anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/morning-glory-anomaly"
      },
      {
        "slug": "stenosis-of-the-external-auditory-canal",
        "name": "Narrow ear canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stenosis-of-the-external-auditory-canal"
      },
      {
        "slug": "ocular-anterior-segment-dysgenesis",
        "name": "Ocular anterior segment dysgenesis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ocular-anterior-segment-dysgenesis"
      },
      {
        "slug": "phthisis-bulbi",
        "name": "Phthisis bulbi",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/phthisis-bulbi"
      },
      {
        "slug": "posterior-embryotoxon",
        "name": "Posterior embryotoxon",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posterior-embryotoxon"
      },
      {
        "slug": "posterior-synechiae-of-the-anterior-chamber",
        "name": "Posterior synechiae of the anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-synechiae-of-the-anterior-chamber"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "short-mandibular-rami",
        "name": "Short mandibular rami",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-mandibular-rami"
      },
      {
        "slug": "microphakia",
        "name": "Small lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphakia"
      },
      {
        "slug": "spina-bifida-occulta",
        "name": "Spina bifida occulta",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spina-bifida-occulta"
      },
      {
        "slug": "ultra-low-vision-with-retained-light-perception",
        "name": "Ultra-low vision with retained light perception",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ultra-low-vision-with-retained-light-perception"
      }
    ],
    "related": [
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "name": "BCL6 corepressor",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bcor"
      },
      {
        "slug": "bmp4",
        "symbol": "BMP4",
        "name": "bone morphogenetic protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/bmp4"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "name": "cytochrome c oxidase subunit 7B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cox7b"
      },
      {
        "slug": "ercc1",
        "symbol": "ERCC1",
        "name": "ERCC excision repair 1, endonuclease non-catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ercc1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ercc2"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "name": "ERCC excision repair 5, endonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ercc5"
      },
      {
        "slug": "fat1",
        "symbol": "FAT1",
        "name": "FAT atypical cadherin 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/fat1"
      },
      {
        "slug": "hccs",
        "symbol": "HCCS",
        "name": "holocytochrome c synthase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hccs"
      },
      {
        "slug": "mab21l2",
        "symbol": "MAB21L2",
        "name": "mab-21 like 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mab21l2"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ndufb11"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "name": "orthodenticle homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/otx2"
      },
      {
        "slug": "rab18",
        "symbol": "RAB18",
        "name": "RAB18, member RAS oncogene family",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/rab18"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}