{
  "url": "https://dantelabs.com/nl/genes/cblif",
  "gene": {
    "slug": "cblif",
    "symbol": "CBLIF",
    "name": "cobalamin binding intrinsic factor",
    "hgnc": "HGNC:4268",
    "summary": null,
    "location": "11q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "TCN3",
      "IF",
      "IFMH",
      "INF"
    ],
    "previousSymbols": [
      "GIF"
    ],
    "ensemblId": "ENSG00000134812",
    "entrezId": 2694,
    "omim": [
      "609342"
    ],
    "uniprot": [
      "P27352"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 59829273,
      "end": 59845499,
      "strand": "-",
      "ensemblTranscript": "ENST00000257248.3",
      "refseqTranscript": "NM_005142.3",
      "ensemblProtein": "ENSP00000257248.2",
      "refseqProtein": "NP_005133.2",
      "exons": [
        {
          "start": 59829273,
          "end": 59829545
        },
        {
          "start": 59831678,
          "end": 59831796
        },
        {
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        },
        {
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        {
          "start": 59842443,
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        },
        {
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        },
        {
          "start": 59843879,
          "end": 59844055
        },
        {
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          "end": 59845499
        }
      ],
      "cds": {
        "start": 59829484,
        "end": 59845453
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 59596741,
      "end": 59612974,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 59337386,
      "end": 60337385,
      "genes": [
        {
          "symbol": "OR5AN1",
          "ensemblId": "ENSG00000176495",
          "biotype": "protein_coding",
          "start": 59358895,
          "end": 59371714,
          "strand": "+",
          "slug": "or5an1"
        },
        {
          "symbol": "OR5A2",
          "ensemblId": "ENSG00000172324",
          "biotype": "protein_coding",
          "start": 59416969,
          "end": 59426413,
          "strand": "-",
          "slug": "or5a2"
        },
        {
          "symbol": "OR5A1",
          "ensemblId": "ENSG00000172320",
          "biotype": "protein_coding",
          "start": 59436469,
          "end": 59451380,
          "strand": "+",
          "slug": "or5a1"
        },
        {
          "symbol": "OR4D6",
          "ensemblId": "ENSG00000166884",
          "biotype": "protein_coding",
          "start": 59456961,
          "end": 59457905,
          "strand": "+",
          "slug": "or4d6"
        },
        {
          "symbol": "OR4D10",
          "ensemblId": "ENSG00000254466",
          "biotype": "protein_coding",
          "start": 59473315,
          "end": 59479361,
          "strand": "+",
          "slug": "or4d10"
        },
        {
          "symbol": "OR4D11",
          "ensemblId": "ENSG00000176200",
          "biotype": "protein_coding",
          "start": 59503576,
          "end": 59504511,
          "strand": "+",
          "slug": "or4d11"
        },
        {
          "symbol": "OR4D9",
          "ensemblId": "ENSG00000172742",
          "biotype": "protein_coding",
          "start": 59511368,
          "end": 59520703,
          "strand": "+",
          "slug": "or4d9"
        },
        {
          "symbol": "OSBP",
          "ensemblId": "ENSG00000110048",
          "biotype": "protein_coding",
          "start": 59574398,
          "end": 59615792,
          "strand": "-",
          "slug": "osbp"
        },
        {
          "symbol": "PATL1",
          "ensemblId": "ENSG00000166889",
          "biotype": "protein_coding",
          "start": 59636470,
          "end": 59669162,
          "strand": "-",
          "slug": "patl1"
        },
        {
          "symbol": "OR10V1",
          "ensemblId": "ENSG00000172289",
          "biotype": "protein_coding",
          "start": 59712916,
          "end": 59713845,
          "strand": "-",
          "slug": "or10v1"
        },
        {
          "symbol": "STX3",
          "ensemblId": "ENSG00000166900",
          "biotype": "protein_coding",
          "start": 59713456,
          "end": 59838302,
          "strand": "+",
          "slug": "stx3"
        },
        {
          "symbol": "MRPL16",
          "ensemblId": "ENSG00000166902",
          "biotype": "protein_coding",
          "start": 59806138,
          "end": 59811377,
          "strand": "-",
          "slug": "mrpl16"
        },
        {
          "symbol": "TCN1",
          "ensemblId": "ENSG00000134827",
          "biotype": "protein_coding",
          "start": 59852800,
          "end": 59866489,
          "strand": "-",
          "slug": "tcn1"
        },
        {
          "symbol": "OOSP3",
          "ensemblId": "ENSG00000285231",
          "biotype": "protein_coding",
          "start": 59878782,
          "end": 59896483,
          "strand": "+",
          "slug": "oosp3"
        },
        {
          "symbol": "OOSP1",
          "ensemblId": "ENSG00000284873",
          "biotype": "protein_coding",
          "start": 59938432,
          "end": 59957481,
          "strand": "+",
          "slug": "oosp1"
        },
        {
          "symbol": "OOSP4A",
          "ensemblId": "ENSG00000285010",
          "biotype": "protein_coding",
          "start": 59963918,
          "end": 59970357,
          "strand": "+",
          "slug": "oosp4a"
        },
        {
          "symbol": "OOSP4B",
          "ensemblId": "ENSG00000255393",
          "biotype": "protein_coding",
          "start": 59978020,
          "end": 60031095,
          "strand": "+",
          "slug": "oosp4b"
        },
        {
          "symbol": "OOSP2",
          "ensemblId": "ENSG00000149507",
          "biotype": "protein_coding",
          "start": 60040282,
          "end": 60053856,
          "strand": "+",
          "slug": "oosp2"
        },
        {
          "symbol": "MS4A3",
          "ensemblId": "ENSG00000149516",
          "biotype": "protein_coding",
          "start": 60056587,
          "end": 60071115,
          "strand": "+",
          "slug": "ms4a3"
        },
        {
          "symbol": "MS4A2",
          "ensemblId": "ENSG00000149534",
          "biotype": "protein_coding",
          "start": 60088261,
          "end": 60098467,
          "strand": "+",
          "slug": "ms4a2"
        },
        {
          "symbol": "MS4A6A",
          "ensemblId": "ENSG00000110077",
          "biotype": "protein_coding",
          "start": 60169930,
          "end": 60184666,
          "strand": "-",
          "slug": "ms4a6a"
        },
        {
          "symbol": "MS4A4A",
          "ensemblId": "ENSG00000110079",
          "biotype": "protein_coding",
          "start": 60185657,
          "end": 60318311,
          "strand": "+",
          "slug": "ms4a4a"
        },
        {
          "symbol": "MS4A4E",
          "ensemblId": "ENSG00000214787",
          "biotype": "protein_coding",
          "start": 60200270,
          "end": 60243162,
          "strand": "-",
          "slug": "ms4a4e"
        },
        {
          "symbol": "MS4A6E",
          "ensemblId": "ENSG00000166926",
          "biotype": "protein_coding",
          "start": 60327251,
          "end": 60396596,
          "strand": "+",
          "slug": "ms4a6e"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Homocystinurie en stoornissen van cobalamine (vitamine B12)",
        "diseases": [
          {
            "mondoId": "MONDO:0019220",
            "name": "Aangeboren stoornissen van de cobalaminestofwisseling en -transport",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Omvat defecten in de opname en het transport van vitamine B12, zoals het syndroom van Imerslund-Gräsbeck (CUBN, AMN), intrinsieke-factordeficiëntie (CBLIF) en transcobalamine II-deficiëntie (TCN2), evenals defecten in de intracellulaire verwerking van cobalamine, die kunnen leiden tot megaloblastaire anemie, zenuwschade en groeiachterstand.",
            "management": "Als u dit weet, kunt u levenslang vitamine B12-injecties of andere cobalamine-behandeling krijgen. Dit kan anemie en neurologische schade voorkomen.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/homocystinuria-and-cobalamin-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absence-of-intrinsic-factor",
        "name": "Absence of intrinsic factor",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absence-of-intrinsic-factor"
      },
      {
        "slug": "anti-intrinsic-factor-antibody-positivity",
        "name": "Anti-intrinsic factor antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/anti-intrinsic-factor-antibody-positivity"
      },
      {
        "slug": "decreased-circulating-haptoglobin-concentration",
        "name": "Decreased circulating haptoglobin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-haptoglobin-concentration"
      },
      {
        "slug": "atrophy-of-the-spinal-cord",
        "name": "Degeneration of the spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrophy-of-the-spinal-cord"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "hyperhomocystinemia",
        "name": "Elevated blood homocystine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperhomocystinemia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "increased-mean-corpuscular-volume",
        "name": "Increased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/increased-mean-corpuscular-volume"
      },
      {
        "slug": "increased-rbc-distribution-width",
        "name": "Increased RBC distribution width",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-rbc-distribution-width"
      },
      {
        "slug": "asthenia",
        "name": "Lack of energy and strength",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asthenia"
      },
      {
        "slug": "malabsorption-of-vitamin-b12",
        "name": "Malabsorption of Vitamin B12",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/malabsorption-of-vitamin-b12"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "megaloblastic-erythroid-hyperplasia",
        "name": "Megaloblastic erythroid hyperplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/megaloblastic-erythroid-hyperplasia"
      },
      {
        "slug": "methylmalonic-acidemia",
        "name": "Methylmalonic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/methylmalonic-acidemia"
      },
      {
        "slug": "methylmalonic-aciduria",
        "name": "Methylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/methylmalonic-aciduria"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "somatic-sensory-dysfunction",
        "name": "Somatic sensory dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "decreased-circulating-vitamin-b12-concentration",
        "name": "Vitamin B12 deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-b12-concentration"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/abcd4"
      },
      {
        "slug": "amn",
        "symbol": "AMN",
        "name": "amnion associated transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/amn"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cd320"
      },
      {
        "slug": "cubn",
        "symbol": "CUBN",
        "name": "cubilin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cubn"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/lmbrd1"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "name": "metabolism of cobalamin associated A",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mmaa"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "name": "metabolism of cobalamin associated B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mmab"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mmadhc"
      },
      {
        "slug": "mtr",
        "symbol": "MTR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mtr"
      },
      {
        "slug": "mtrr",
        "symbol": "MTRR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mtrr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}