{
  "url": "https://dantelabs.com/da/genes/amn",
  "gene": {
    "slug": "amn",
    "symbol": "AMN",
    "name": "amnion associated transmembrane protein",
    "hgnc": "HGNC:14604",
    "summary": null,
    "location": "14q32.32",
    "locusType": "gene with protein product",
    "aliases": [
      "amnionless"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166126",
    "entrezId": 81693,
    "omim": [
      "605799"
    ],
    "uniprot": [
      "Q9BXJ7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 102922663,
      "end": 102930842,
      "strand": "+",
      "ensemblTranscript": "ENST00000299155.10",
      "refseqTranscript": "NM_030943.4",
      "ensemblProtein": "ENSP00000299155.6",
      "refseqProtein": "NP_112205.2",
      "exons": [
        {
          "start": 102922663,
          "end": 102922731
        },
        {
          "start": 102923711,
          "end": 102923829
        },
        {
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          "end": 102923979
        },
        {
          "start": 102928426,
          "end": 102928513
        },
        {
          "start": 102928758,
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        },
        {
          "start": 102929121,
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        },
        {
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          "end": 102929536
        },
        {
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        },
        {
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          "end": 102930086
        },
        {
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          "end": 102930327
        },
        {
          "start": 102930406,
          "end": 102930493
        },
        {
          "start": 102930576,
          "end": 102930842
        }
      ],
      "cds": {
        "start": 102922689,
        "end": 102930680
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 103388993,
      "end": 103399933,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 102426753,
      "end": 103426752,
      "genes": [
        {
          "symbol": "TECPR2",
          "ensemblId": "ENSG00000196663",
          "biotype": "protein_coding",
          "start": 102362933,
          "end": 102502477,
          "strand": "+",
          "slug": "tecpr2"
        },
        {
          "symbol": "ANKRD9",
          "ensemblId": "ENSG00000156381",
          "biotype": "protein_coding",
          "start": 102501767,
          "end": 102509824,
          "strand": "-",
          "slug": "ankrd9"
        },
        {
          "symbol": "RCOR1",
          "ensemblId": "ENSG00000089902",
          "biotype": "protein_coding",
          "start": 102592649,
          "end": 102743672,
          "strand": "+",
          "slug": "rcor1"
        },
        {
          "symbol": "TRAF3",
          "ensemblId": "ENSG00000131323",
          "biotype": "protein_coding",
          "start": 102777326,
          "end": 102911500,
          "strand": "+",
          "slug": "traf3"
        },
        {
          "symbol": "CDC42BPB",
          "ensemblId": "ENSG00000198752",
          "biotype": "protein_coding",
          "start": 102932380,
          "end": 103057607,
          "strand": "-",
          "slug": "cdc42bpb"
        },
        {
          "symbol": "LBHD2",
          "ensemblId": "ENSG00000283071",
          "biotype": "protein_coding",
          "start": 103084174,
          "end": 103090031,
          "strand": "+",
          "slug": "lbhd2"
        },
        {
          "symbol": "EXOC3L4",
          "ensemblId": "ENSG00000205436",
          "biotype": "protein_coding",
          "start": 103094538,
          "end": 103110571,
          "strand": "+",
          "slug": "exoc3l4"
        },
        {
          "symbol": "TNFAIP2",
          "ensemblId": "ENSG00000185215",
          "biotype": "protein_coding",
          "start": 103121265,
          "end": 103137441,
          "strand": "+",
          "slug": "tnfaip2"
        },
        {
          "symbol": "EIF5",
          "ensemblId": "ENSG00000100664",
          "biotype": "protein_coding",
          "start": 103333544,
          "end": 103345025,
          "strand": "+",
          "slug": "eif5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000291313",
          "biotype": "protein_coding",
          "start": 103334237,
          "end": 103335932,
          "strand": "+"
        },
        {
          "symbol": "MARK3",
          "ensemblId": "ENSG00000075413",
          "biotype": "protein_coding",
          "start": 103385361,
          "end": 103503835,
          "strand": "+",
          "slug": "mark3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Homocystinuri og cobalamin-forstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0019220",
            "name": "Medfødte forstyrrelser i cobalaminmetabolisme og -transport",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Omfatter defekter i optagelse og transport af vitamin B12, såsom Imerslund-Gräsbecks syndrom (CUBN, AMN), intrinsic factor-mangel (CBLIF) og transcobalamin II-mangel (TCN2), samt defekter i intracellulær behandling af cobalamin, som kan forårsage megaloblastær anæmi, nerveskader og manglende vækst.",
            "management": "Viden gør det muligt at få livslange injektioner med vitamin B12 eller anden cobalaminbehandling, hvilket kan forebygge anæmi og neurologiske skader.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/homocystinuria-and-cobalamin-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-5-methyltetrahydrofolate-concentration",
        "name": "Abnormal circulating 5-methyltetrahydrofolate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-circulating-5-methyltetrahydrofolate-concentration"
      },
      {
        "slug": "abnormal-hemoglobin-concentration",
        "name": "Abnormal hemoglobin concentration",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hemoglobin-concentration"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "anisopoikilocytosis",
        "name": "Anisopoikilocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anisopoikilocytosis"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "moderate-albuminuria",
        "name": "High urine albumin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/moderate-albuminuria"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hypersegmentation-of-neutrophil-nuclei",
        "name": "Hypersegmentation of neutrophil nuclei",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypersegmentation-of-neutrophil-nuclei"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "angular-cheilitis",
        "name": "Inflammation of corners of the mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/angular-cheilitis"
      },
      {
        "slug": "glossitis",
        "name": "Inflammation of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glossitis"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "oval-macrocytosis",
        "name": "Oval macrocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oval-macrocytosis"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "poor-appetite",
        "name": "Poor appetite",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-appetite"
      },
      {
        "slug": "lumbar-kyphosis",
        "name": "Rounded lower back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lumbar-kyphosis"
      },
      {
        "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"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/abcd4"
      },
      {
        "slug": "cblif",
        "symbol": "CBLIF",
        "name": "cobalamin binding intrinsic factor",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cblif"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cd320"
      },
      {
        "slug": "cubn",
        "symbol": "CUBN",
        "name": "cubilin",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/cubn"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/lmbrd1"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "name": "metabolism of cobalamin associated A",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/mmaa"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "name": "metabolism of cobalamin associated B",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/mmab"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/mmadhc"
      },
      {
        "slug": "mtr",
        "symbol": "MTR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/mtr"
      },
      {
        "slug": "mtrr",
        "symbol": "MTRR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/mtrr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}