{
  "url": "https://dantelabs.com/da/genes/znf462",
  "gene": {
    "slug": "znf462",
    "symbol": "ZNF462",
    "name": "zinc finger protein 462",
    "hgnc": "HGNC:21684",
    "summary": null,
    "location": "9q31.2",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZP762N2316",
      "KIAA1803",
      "Zfp462"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000148143",
    "entrezId": 58499,
    "omim": [
      "617371"
    ],
    "uniprot": [
      "Q96JM2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 106863166,
      "end": 107013634,
      "strand": "+",
      "ensemblTranscript": "ENST00000277225.10",
      "refseqTranscript": "NM_021224.6",
      "ensemblProtein": "ENSP00000277225.5",
      "refseqProtein": "NP_067047.4",
      "exons": [
        {
          "start": 106863166,
          "end": 106863355
        },
        {
          "start": 106923354,
          "end": 106923603
        },
        {
          "start": 106924133,
          "end": 106929759
        },
        {
          "start": 106930525,
          "end": 106930689
        },
        {
          "start": 106932446,
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        },
        {
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          "end": 106935621
        },
        {
          "start": 106938916,
          "end": 106939107
        },
        {
          "start": 106972005,
          "end": 106972272
        },
        {
          "start": 106974137,
          "end": 106974273
        },
        {
          "start": 106984186,
          "end": 106984409
        },
        {
          "start": 107003294,
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        },
        {
          "start": 107009545,
          "end": 107009668
        },
        {
          "start": 107010823,
          "end": 107013634
        }
      ],
      "cds": {
        "start": 106923384,
        "end": 107011030
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 109625378,
      "end": 109775915,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 106438400,
      "end": 107438399,
      "genes": [
        {
          "symbol": "RAD23B",
          "ensemblId": "ENSG00000119318",
          "biotype": "protein_coding",
          "start": 107283137,
          "end": 107332192,
          "strand": "+",
          "slug": "rad23b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "syndromic-craniosynostosis",
        "name": "Syndromisk kraniosynostose",
        "diseases": [
          {
            "mondoId": "MONDO:0015338",
            "name": "Syndromisk kraniosynostose",
            "genes": 23,
            "inheritance": null,
            "description": "Tilstande, der kombinerer for tidlig lukning af kranie-sømme med andre træk, herunder Apert-, Crouzon-, Pfeiffer-, Muenke- og Saethre-Chotzen-syndromerne, forårsaget af gener som FGFR2, FGFR3, FGFR1, TWIST1, TCF12 og ERF.",
            "management": "Tidlig diagnose giver mulighed for rettidig operation og overvågning af hovedets vækst, syn og hørelse; mildere former såsom Muenke-syndrom kan blive uopdaget hos voksne, hvilket er relevant for familieplanlægning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/syndromic-craniosynostosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-limbs",
        "name": "Abnormality of limbs",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-limbs"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "abnormality-of-the-outer-ear",
        "name": "Abnormality of the outer ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-outer-ear"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "proximal-placement-of-thumb",
        "name": "Attachment of thumb close to wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/proximal-placement-of-thumb"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "broad-philtrum",
        "name": "Broad philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-philtrum"
      },
      {
        "slug": "colpocephaly",
        "name": "Colpocephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colpocephaly"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "decreased-response-to-growth-hormone-stimulation-test",
        "name": "Decreased response to growth hormone stimulation test",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dextrotransposition-of-the-great-arteries",
        "name": "Dextrotransposition of the great arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dextrotransposition-of-the-great-arteries"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dysplastic-corpus-callosum",
        "name": "Dysplastic corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysplastic-corpus-callosum"
      },
      {
        "slug": "exaggerated-cupid-s-bow",
        "name": "Exaggerated cupid's bow",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exaggerated-cupid-s-bow"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "horizontal-crus-of-helix",
        "name": "Horizontal crus of helix",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/horizontal-crus-of-helix"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "obstructive-sleep-apnea",
        "name": "Obstructive sleep apnea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/obstructive-sleep-apnea"
      },
      {
        "slug": "overfolded-helix",
        "name": "Overfolded ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/overfolded-helix"
      },
      {
        "slug": "preauricular-pit",
        "name": "Pit in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/preauricular-pit"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "prominent-metopic-ridge",
        "name": "Prominent metopic ridge",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-metopic-ridge"
      },
      {
        "slug": "prominent-nasal-tip",
        "name": "Prominent nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-nasal-tip"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "single-transverse-palmar-crease",
        "name": "Single transverse palmar crease",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/single-transverse-palmar-crease"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "hypoplastic-fingernail",
        "name": "Small fingernail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoplastic-fingernail"
      },
      {
        "slug": "tube-feeding",
        "name": "Tube feeding",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tube-feeding"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "cyp26b1",
        "symbol": "CYP26B1",
        "name": "cytochrome P450 family 26 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cyp26b1"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/erf"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "name": "fibroblast growth factor receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/fgfr1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "name": "fibroblast growth factor receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/fgfr2"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "name": "fibroblast growth factor receptor 3",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/fgfr3"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "name": "intraflagellar transport 122",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/ift122"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "name": "intraflagellar transport 43",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/ift43"
      },
      {
        "slug": "ift52",
        "symbol": "IFT52",
        "name": "intraflagellar transport 52",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/ift52"
      },
      {
        "slug": "il11ra",
        "symbol": "IL11RA",
        "name": "interleukin 11 receptor subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/il11ra"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "name": "lysine acetyltransferase 6A",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/kat6a"
      },
      {
        "slug": "megf8",
        "symbol": "MEGF8",
        "name": "multiple EGF like domains 8",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/megf8"
      },
      {
        "slug": "msx2",
        "symbol": "MSX2",
        "name": "msh homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/msx2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}