{
  "url": "https://dantelabs.com/hu/genes/eml1",
  "gene": {
    "slug": "eml1",
    "symbol": "EML1",
    "name": "EMAP like 1",
    "hgnc": "HGNC:3330",
    "summary": null,
    "location": "14q32.2",
    "locusType": "gene with protein product",
    "aliases": [
      "EMAP",
      "HuEMAP",
      "ELP79"
    ],
    "previousSymbols": [
      "EMAPL"
    ],
    "ensemblId": "ENSG00000066629",
    "entrezId": 2009,
    "omim": [
      "602033"
    ],
    "uniprot": [
      "O00423"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 99793413,
      "end": 99942060,
      "strand": "+",
      "ensemblTranscript": "ENST00000262233.11",
      "refseqTranscript": "NM_004434.3",
      "ensemblProtein": "ENSP00000262233.7",
      "refseqProtein": "NP_004425.2",
      "exons": [
        {
          "start": 99793413,
          "end": 99793543
        },
        {
          "start": 99850853,
          "end": 99851035
        },
        {
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        },
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        },
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        },
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        },
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        },
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          "end": 99936334
        },
        {
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        },
        {
          "start": 99939197,
          "end": 99939327
        },
        {
          "start": 99939987,
          "end": 99942060
        }
      ],
      "cds": {
        "start": 99793477,
        "end": 99940112
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 100204030,
      "end": 100408397,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 99367737,
      "end": 100367736,
      "genes": [
        {
          "symbol": "SETD3",
          "ensemblId": "ENSG00000183576",
          "biotype": "protein_coding",
          "start": 99395061,
          "end": 99480927,
          "strand": "-",
          "slug": "setd3"
        },
        {
          "symbol": "CCNK",
          "ensemblId": "ENSG00000090061",
          "biotype": "protein_coding",
          "start": 99481169,
          "end": 99535044,
          "strand": "+",
          "slug": "ccnk"
        },
        {
          "symbol": "CCDC85C",
          "ensemblId": "ENSG00000205476",
          "biotype": "protein_coding",
          "start": 99500190,
          "end": 99604265,
          "strand": "-",
          "slug": "ccdc85c"
        },
        {
          "symbol": "HHIPL1",
          "ensemblId": "ENSG00000182218",
          "biotype": "protein_coding",
          "start": 99645122,
          "end": 99680569,
          "strand": "+",
          "slug": "hhipl1"
        },
        {
          "symbol": "CYP46A1",
          "ensemblId": "ENSG00000036530",
          "biotype": "protein_coding",
          "start": 99684199,
          "end": 99727319,
          "strand": "+",
          "slug": "cyp46a1"
        },
        {
          "symbol": "EVL",
          "ensemblId": "ENSG00000196405",
          "biotype": "protein_coding",
          "start": 99971444,
          "end": 100144236,
          "strand": "+",
          "slug": "evl"
        },
        {
          "symbol": "DEGS2",
          "ensemblId": "ENSG00000168350",
          "biotype": "protein_coding",
          "start": 100143957,
          "end": 100159688,
          "strand": "-",
          "slug": "degs2"
        },
        {
          "symbol": "YY1",
          "ensemblId": "ENSG00000100811",
          "biotype": "protein_coding",
          "start": 100238298,
          "end": 100282788,
          "strand": "+",
          "slug": "yy1"
        },
        {
          "symbol": "SLC25A29",
          "ensemblId": "ENSG00000197119",
          "biotype": "protein_coding",
          "start": 100291116,
          "end": 100306547,
          "strand": "-",
          "slug": "slc25a29"
        },
        {
          "symbol": "SLC25A47",
          "ensemblId": "ENSG00000140107",
          "biotype": "protein_coding",
          "start": 100323156,
          "end": 100330421,
          "strand": "+",
          "slug": "slc25a47"
        },
        {
          "symbol": "WARS1",
          "ensemblId": "ENSG00000140105",
          "biotype": "protein_coding",
          "start": 100333782,
          "end": 100376805,
          "strand": "-",
          "slug": "wars1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "band-heterotopia-eml1",
        "name": "EML1-Related Band Heterotopia",
        "diseases": [
          {
            "mondoId": "MONDO:0010873",
            "name": "EML1-Related Band Heterotopia",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "This form of heterotopia is caused by changes in both copies of EML1, a gene needed for the early brain stem cells that produce nerve cells. When it does not work, nerve cells are misplaced in a large, often ribbon-like band of grey matter beneath the cortex.",
            "management": "Management includes neurological follow-up and seizure treatment, which may need several medicines, together with developmental, educational and therapy support. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/band-heterotopia-eml1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "hypoplastic-hippocampus",
        "name": "Small hippocampus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-hippocampus"
      },
      {
        "slug": "subcortical-band-heterotopia",
        "name": "Subcortical band heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/subcortical-band-heterotopia"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}