{
  "url": "https://dantelabs.com/da/genes/elp4",
  "gene": {
    "slug": "elp4",
    "symbol": "ELP4",
    "name": "elongator acetyltransferase complex subunit 4",
    "hgnc": "HGNC:1171",
    "summary": null,
    "location": "11p13",
    "locusType": "gene with protein product",
    "aliases": [
      "PAXNEB"
    ],
    "previousSymbols": [
      "C11orf19"
    ],
    "ensemblId": "ENSG00000109911",
    "entrezId": 26610,
    "omim": [
      "606985"
    ],
    "uniprot": [
      "Q96EB1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 31509767,
      "end": 31790324,
      "strand": "+",
      "ensemblTranscript": "ENST00000640961.2",
      "refseqTranscript": "NM_019040.5",
      "ensemblProtein": "ENSP00000492152.1",
      "refseqProtein": "NP_061913.3",
      "exons": [
        {
          "start": 31509767,
          "end": 31510007
        },
        {
          "start": 31520056,
          "end": 31520091
        },
        {
          "start": 31539662,
          "end": 31539783
        },
        {
          "start": 31594770,
          "end": 31594901
        },
        {
          "start": 31603768,
          "end": 31603907
        },
        {
          "start": 31627110,
          "end": 31627194
        },
        {
          "start": 31632217,
          "end": 31632405
        },
        {
          "start": 31647741,
          "end": 31647849
        },
        {
          "start": 31650115,
          "end": 31650221
        },
        {
          "start": 31783393,
          "end": 31790324
        }
      ],
      "cds": {
        "start": 31509785,
        "end": 31783524
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 31531297,
      "end": 31805546,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31150046,
      "end": 32150045,
      "genes": [
        {
          "symbol": "DCDC1",
          "ensemblId": "ENSG00000170959",
          "biotype": "protein_coding",
          "start": 30830369,
          "end": 31369810,
          "strand": "-",
          "slug": "dcdc1"
        },
        {
          "symbol": "DNAJC24",
          "ensemblId": "ENSG00000170946",
          "biotype": "protein_coding",
          "start": 31369799,
          "end": 31432835,
          "strand": "+",
          "slug": "dnajc24"
        },
        {
          "symbol": "IMMP1L",
          "ensemblId": "ENSG00000148950",
          "biotype": "protein_coding",
          "start": 31432399,
          "end": 31509656,
          "strand": "-",
          "slug": "immp1l"
        },
        {
          "symbol": "PAX6",
          "ensemblId": "ENSG00000007372",
          "biotype": "protein_coding",
          "start": 31784779,
          "end": 31817967,
          "strand": "-",
          "slug": "pax6"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285283",
          "biotype": "protein_coding",
          "start": 31812391,
          "end": 32104665,
          "strand": "+"
        },
        {
          "symbol": "RCN1",
          "ensemblId": "ENSG00000049449",
          "biotype": "protein_coding",
          "start": 32090968,
          "end": 32107639,
          "strand": "+",
          "slug": "rcn1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "anterior-segment-dysgenesis-and-aniridia",
        "name": "Dysgenese i det forreste øjenafsnit, Axenfeld-Rieger-syndrom og Aniridi",
        "diseases": [
          {
            "mondoId": "MONDO:0019172",
            "name": "Aniridi",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "En dominant tilstand, som oftest skyldes ændringer i eller deletioner af PAX6, hvor iris delvist eller helt mangler, ofte med nedsat syn og nystagmus.",
            "management": "Regelmæssig kontrol for glaukom, katarakt og ændringer i hornhinden anbefales; når en deletion også omfatter det nærliggende WT1-gen, skal børn screenes for Wilms tumor.",
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/anterior-segment-dysgenesis-and-aniridia"
      },
      {
        "slug": "kidney-cancer",
        "name": "Nyrekræft",
        "diseases": [
          {
            "mondoId": "MONDO:0002367",
            "name": "Nyrekræft",
            "genes": 9,
            "inheritance": null,
            "description": "Primær eller metastatisk malign neoplasi, der involverer nyren.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/kidney-cancer"
      },
      {
        "slug": "urinary-and-renal-system-tumour",
        "name": "Tumor i urinveje og nyrer",
        "diseases": [
          {
            "mondoId": "MONDO:0021066",
            "name": "Neoplasi i urinsystemet",
            "genes": 12,
            "inheritance": null,
            "description": "En godartet eller ondartet, primær eller metastatisk neoplasi, der involverer urinsystemet.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/urinary-and-renal-system-tumour"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aniridia",
        "name": "Absent iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aniridia"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "lens-subluxation",
        "name": "Partially dislocated lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lens-subluxation"
      }
    ],
    "related": [
      {
        "slug": "pax6",
        "symbol": "PAX6",
        "name": "paired box 6",
        "shared": 3,
        "url": "https://dantelabs.com/da/genes/pax6"
      },
      {
        "slug": "bap1",
        "symbol": "BAP1",
        "name": "BRCA1 associated deubiquitinase 1",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/bap1"
      },
      {
        "slug": "flcn",
        "symbol": "FLCN",
        "name": "folliculin",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/flcn"
      },
      {
        "slug": "met",
        "symbol": "MET",
        "name": "MET proto-oncogene, receptor tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/met"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/sdhb"
      },
      {
        "slug": "tp53",
        "symbol": "TP53",
        "name": "tumor protein p53",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/tp53"
      },
      {
        "slug": "trim28",
        "symbol": "TRIM28",
        "name": "tripartite motif containing 28",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/trim28"
      },
      {
        "slug": "vhl",
        "symbol": "VHL",
        "name": "von Hippel-Lindau tumor suppressor",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/vhl"
      },
      {
        "slug": "ret",
        "symbol": "RET",
        "name": "ret proto-oncogene",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/ret"
      },
      {
        "slug": "sdha",
        "symbol": "SDHA",
        "name": "succinate dehydrogenase complex flavoprotein subunit A",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/sdha"
      },
      {
        "slug": "sdhaf2",
        "symbol": "SDHAF2",
        "name": "succinate dehydrogenase complex assembly factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/sdhaf2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}