{
  "url": "https://dantelabs.com/da/genes/eif2b5",
  "gene": {
    "slug": "eif2b5",
    "symbol": "EIF2B5",
    "name": "eukaryotic translation initiation factor 2B subunit epsilon",
    "hgnc": "HGNC:3261",
    "summary": null,
    "location": "3q27.1",
    "locusType": "gene with protein product",
    "aliases": [
      "EIF2Bepsilon",
      "EIF-2B"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000145191",
    "entrezId": 8893,
    "omim": [
      "603945"
    ],
    "uniprot": [
      "Q13144"
    ],
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      "strand": "+",
      "ensemblTranscript": "ENST00000648915.2",
      "refseqTranscript": "NM_003907.3",
      "ensemblProtein": "ENSP00000497160.1",
      "refseqProtein": "NP_003898.2",
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 183852826,
      "end": 184402546,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 183640335,
      "end": 184640334,
      "genes": [
        {
          "symbol": "KLHL24",
          "ensemblId": "ENSG00000114796",
          "biotype": "protein_coding",
          "start": 183635602,
          "end": 183693117,
          "strand": "+",
          "slug": "klhl24"
        },
        {
          "symbol": "YEATS2",
          "ensemblId": "ENSG00000163872",
          "biotype": "protein_coding",
          "start": 183697748,
          "end": 183812809,
          "strand": "+",
          "slug": "yeats2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000283765",
          "biotype": "protein_coding",
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          "end": 183884889,
          "strand": "-"
        },
        {
          "symbol": "MAP6D1",
          "ensemblId": "ENSG00000180834",
          "biotype": "protein_coding",
          "start": 183815881,
          "end": 183825612,
          "strand": "-",
          "slug": "map6d1"
        },
        {
          "symbol": "PARL",
          "ensemblId": "ENSG00000175193",
          "biotype": "protein_coding",
          "start": 183826489,
          "end": 183884933,
          "strand": "-",
          "slug": "parl"
        },
        {
          "symbol": "ABCC5",
          "ensemblId": "ENSG00000114770",
          "biotype": "protein_coding",
          "start": 183919934,
          "end": 184018307,
          "strand": "-",
          "slug": "abcc5"
        },
        {
          "symbol": "HTR3D",
          "ensemblId": "ENSG00000186090",
          "biotype": "protein_coding",
          "start": 184031544,
          "end": 184039369,
          "strand": "+",
          "slug": "htr3d"
        },
        {
          "symbol": "HTR3C",
          "ensemblId": "ENSG00000178084",
          "biotype": "protein_coding",
          "start": 184053047,
          "end": 184060673,
          "strand": "+",
          "slug": "htr3c"
        },
        {
          "symbol": "HTR3E",
          "ensemblId": "ENSG00000186038",
          "biotype": "protein_coding",
          "start": 184097064,
          "end": 184106995,
          "strand": "+",
          "slug": "htr3e"
        },
        {
          "symbol": "DVL3",
          "ensemblId": "ENSG00000161202",
          "biotype": "protein_coding",
          "start": 184155159,
          "end": 184173616,
          "strand": "+",
          "slug": "dvl3"
        },
        {
          "symbol": "AP2M1",
          "ensemblId": "ENSG00000161203",
          "biotype": "protein_coding",
          "start": 184174689,
          "end": 184184214,
          "strand": "+",
          "slug": "ap2m1"
        },
        {
          "symbol": "ABCF3",
          "ensemblId": "ENSG00000161204",
          "biotype": "protein_coding",
          "start": 184186095,
          "end": 184194451,
          "strand": "+",
          "slug": "abcf3"
        },
        {
          "symbol": "VWA5B2",
          "ensemblId": "ENSG00000145198",
          "biotype": "protein_coding",
          "start": 184228996,
          "end": 184242342,
          "strand": "+",
          "slug": "vwa5b2"
        },
        {
          "symbol": "ALG3",
          "ensemblId": "ENSG00000214160",
          "biotype": "protein_coding",
          "start": 184242301,
          "end": 184249571,
          "strand": "-",
          "slug": "alg3"
        },
        {
          "symbol": "EEF1AKMT4",
          "ensemblId": "ENSG00000284753",
          "biotype": "protein_coding",
          "start": 184249609,
          "end": 184258759,
          "strand": "+",
          "slug": "eef1akmt4"
        },
        {
          "symbol": "EEF1AKMT4-ECE2",
          "ensemblId": "ENSG00000284917",
          "biotype": "protein_coding",
          "start": 184249695,
          "end": 184293031,
          "strand": "+",
          "slug": "eef1akmt4-ece2"
        },
        {
          "symbol": "CAMK2N2",
          "ensemblId": "ENSG00000163888",
          "biotype": "protein_coding",
          "start": 184259213,
          "end": 184261602,
          "strand": "-",
          "slug": "camk2n2"
        },
        {
          "symbol": "ECE2",
          "ensemblId": "ENSG00000145194",
          "biotype": "protein_coding",
          "start": 184275531,
          "end": 184293031,
          "strand": "+",
          "slug": "ece2"
        },
        {
          "symbol": "PSMD2",
          "ensemblId": "ENSG00000175166",
          "biotype": "protein_coding",
          "start": 184299157,
          "end": 184309054,
          "strand": "+",
          "slug": "psmd2"
        },
        {
          "symbol": "EIF4G1",
          "ensemblId": "ENSG00000114867",
          "biotype": "protein_coding",
          "start": 184314490,
          "end": 184335358,
          "strand": "+",
          "slug": "eif4g1"
        },
        {
          "symbol": "FAM131A",
          "ensemblId": "ENSG00000175182",
          "biotype": "protein_coding",
          "start": 184335916,
          "end": 184348421,
          "strand": "+",
          "slug": "fam131a"
        },
        {
          "symbol": "CLCN2",
          "ensemblId": "ENSG00000114859",
          "biotype": "protein_coding",
          "start": 184346185,
          "end": 184363274,
          "strand": "-",
          "slug": "clcn2"
        },
        {
          "symbol": "POLR2H",
          "ensemblId": "ENSG00000163882",
          "biotype": "protein_coding",
          "start": 184360856,
          "end": 184368596,
          "strand": "+",
          "slug": "polr2h"
        },
        {
          "symbol": "THPO",
          "ensemblId": "ENSG00000090534",
          "biotype": "protein_coding",
          "start": 184367389,
          "end": 184381968,
          "strand": "-",
          "slug": "thpo"
        },
        {
          "symbol": "CHRD",
          "ensemblId": "ENSG00000090539",
          "biotype": "protein_coding",
          "start": 184379381,
          "end": 184390736,
          "strand": "+",
          "slug": "chrd"
        },
        {
          "symbol": "EPHB3",
          "ensemblId": "ENSG00000182580",
          "biotype": "protein_coding",
          "start": 184561751,
          "end": 184582408,
          "strand": "+",
          "slug": "ephb3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "vanishing-white-matter-disease",
        "name": "Vanishing White Matter-sygdom",
        "diseases": [
          {
            "mondoId": "MONDO:0800448",
            "name": "Leukoencefalopati med vanishing white matter (EIF2B1 til EIF2B5)",
            "genes": 6,
            "inheritance": "autosomal-recessive",
            "description": "Forårsager progressiv ataksi og spasticitet med trinvis forværring efter belastninger såsom feber eller hovedtraume; debut varierer fra før fødslen til voksen alder, og nogle kvinder har desuden tidlig ovariesvigt.",
            "management": "Kendskab til diagnosen gør det muligt for familier at forebygge og hurtigt behandle feber og infektioner samt undgå hovedtraumer, som kan udløse forværringer.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/vanishing-white-matter-disease"
      },
      {
        "slug": "leukodystrophy",
        "name": "Andre arvelige leukodystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofi (andre og uspecificerede typer)",
            "genes": 80,
            "inheritance": null,
            "description": "Arvelige tilstande, der beskadiger eller forhindrer den normale dannelse af myelin, hjernens og rygmarvens hvide substans. De forskellige typer følger autosomal recessiv, autosomal dominant eller X-bundet arvegang, afhængigt af det involverede gen.",
            "management": "Kendskab til den specifikke genetiske årsag kan afslutte en diagnostisk søgen, vejlede understøttende behandling og opfølgning, vise, om en specifik behandling findes, og gøre det muligt at teste slægtninge.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/da/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "decreased-csf-asialotransferrin-to-transferrin-ratio",
        "name": "Decreased CSF asialotransferrin to transferrin ratio",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-csf-asialotransferrin-to-transferrin-ratio"
      },
      {
        "slug": "dilated-third-ventricle",
        "name": "Dilated third ventricle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilated-third-ventricle"
      },
      {
        "slug": "megalencephaly",
        "name": "Enlarged brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/megalencephaly"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "progressive-neurologic-deterioration",
        "name": "Worsening neurological symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/aars2"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/eif2b1"
      },
      {
        "slug": "eif2b2",
        "symbol": "EIF2B2",
        "name": "eukaryotic translation initiation factor 2B subunit beta",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/eif2b2"
      },
      {
        "slug": "eif2b3",
        "symbol": "EIF2B3",
        "name": "eukaryotic translation initiation factor 2B subunit gamma",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/eif2b3"
      },
      {
        "slug": "eif2b4",
        "symbol": "EIF2B4",
        "name": "eukaryotic translation initiation factor 2B subunit delta",
        "shared": 2,
        "url": "https://dantelabs.com/da/genes/eif2b4"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/aars1"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/aldh3a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}