{
  "url": "https://dantelabs.com/nl/genes/apoa1",
  "gene": {
    "slug": "apoa1",
    "symbol": "APOA1",
    "name": "apolipoprotein A1",
    "hgnc": "HGNC:600",
    "summary": null,
    "location": "11q23.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000118137",
    "entrezId": 335,
    "omim": [
      "107680"
    ],
    "uniprot": [
      "P02647"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 116835751,
      "end": 116837622,
      "strand": "-",
      "ensemblTranscript": "ENST00000236850.5",
      "refseqTranscript": "NM_000039.3",
      "ensemblProtein": "ENSP00000236850.3",
      "refseqProtein": "NP_000030.1",
      "exons": [
        {
          "start": 116835751,
          "end": 116836411
        },
        {
          "start": 116837001,
          "end": 116837157
        },
        {
          "start": 116837345,
          "end": 116837407
        },
        {
          "start": 116837605,
          "end": 116837622
        }
      ],
      "cds": {
        "start": 116835808,
        "end": 116837387
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 116706467,
      "end": 116708666,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 116336687,
      "end": 117336686,
      "genes": [
        {
          "symbol": "BUD13",
          "ensemblId": "ENSG00000137656",
          "biotype": "protein_coding",
          "start": 116748170,
          "end": 116773039,
          "strand": "-",
          "slug": "bud13"
        },
        {
          "symbol": "ZPR1",
          "ensemblId": "ENSG00000109917",
          "biotype": "protein_coding",
          "start": 116773799,
          "end": 116788477,
          "strand": "-",
          "slug": "zpr1"
        },
        {
          "symbol": "APOA5",
          "ensemblId": "ENSG00000110243",
          "biotype": "protein_coding",
          "start": 116789014,
          "end": 116793026,
          "strand": "-",
          "slug": "apoa5"
        },
        {
          "symbol": "APOA4",
          "ensemblId": "ENSG00000110244",
          "biotype": "protein_coding",
          "start": 116820700,
          "end": 116823427,
          "strand": "-",
          "slug": "apoa4"
        },
        {
          "symbol": "APOC3",
          "ensemblId": "ENSG00000110245",
          "biotype": "protein_coding",
          "start": 116827019,
          "end": 116835254,
          "strand": "+",
          "slug": "apoc3"
        },
        {
          "symbol": "SIK3",
          "ensemblId": "ENSG00000160584",
          "biotype": "protein_coding",
          "start": 116843402,
          "end": 117098463,
          "strand": "-",
          "slug": "sik3"
        },
        {
          "symbol": "PAFAH1B2",
          "ensemblId": "ENSG00000168092",
          "biotype": "protein_coding",
          "start": 117144278,
          "end": 117176894,
          "strand": "+",
          "slug": "pafah1b2"
        },
        {
          "symbol": "SIDT2",
          "ensemblId": "ENSG00000149577",
          "biotype": "protein_coding",
          "start": 117178730,
          "end": 117197452,
          "strand": "+",
          "slug": "sidt2"
        },
        {
          "symbol": "TAGLN",
          "ensemblId": "ENSG00000149591",
          "biotype": "protein_coding",
          "start": 117197509,
          "end": 117207464,
          "strand": "+",
          "slug": "tagln"
        },
        {
          "symbol": "PCSK7",
          "ensemblId": "ENSG00000160613",
          "biotype": "protein_coding",
          "start": 117202588,
          "end": 117232628,
          "strand": "-",
          "slug": "pcsk7"
        },
        {
          "symbol": "RNF214",
          "ensemblId": "ENSG00000167257",
          "biotype": "protein_coding",
          "start": 117232154,
          "end": 117287429,
          "strand": "+",
          "slug": "rnf214"
        },
        {
          "symbol": "BACE1",
          "ensemblId": "ENSG00000186318",
          "biotype": "protein_coding",
          "start": 117285232,
          "end": 117316291,
          "strand": "-",
          "slug": "bace1"
        },
        {
          "symbol": "CEP164",
          "ensemblId": "ENSG00000110274",
          "biotype": "protein_coding",
          "start": 117314557,
          "end": 117413616,
          "strand": "+",
          "slug": "cep164"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-amyloidosis-145",
        "name": "Erfelijke amyloïdose",
        "diseases": [
          {
            "mondoId": "MONDO:0018634",
            "name": "Erfelijke amyloïdose",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Erfelijke amyloïdose is een groep erfelijke aandoeningen die een van de subtypen van amyloïdose vormen. Kenmerkend is de afzetting van een abnormaal eiwit, amyloïde genaamd, op plaatsen in het lichaam waar het niet thuishoort. Dit verstoort de structuur en werking van het weefsel. Bij erfelijke amyloïdose vinden de amyloïdeafzettingen het vaakst plaats in het hart, de nieren en het zenuwstelsel. Hoewel symptomen al in de kindertijd kunnen optreden, krijgen de meeste mensen pas op volwassen leeftijd klachten.\n\nEr bestaan vele vormen van erfelijke amyloïdose, die samenhangen met verschillende genmutaties en abnormale eiwitten. De meest voorkomende vorm is transthyretine-amyloïdose (ATTR), waarbij de amyloïdeafzettingen vaak bestaan uit het transthyretine-eiwit, dat in de lever wordt aangemaakt. Andere voorbeelden van erfelijke amyloïdose zijn, maar niet uitsluitend, apolipoproteïne AI-amyloïdose (A ApoAI), gelsoline-amyloïdose (A Gel), lysozym-amyloïdose (A Lys), cystatine C-amyloïdose (A Cys), fibrinogeen Aα-keten-amyloïdose (A Fib) en apolipoproteïne AII-amyloïdose (A ApoAII).",
            "management": "Tafamidis (kinetische stabilisator), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisense), levertransplantatie",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-amyloidosis-145"
      },
      {
        "slug": "hereditary-hypolipoproteinemias",
        "name": "Erfelijke hypolipoproteïnemieën",
        "diseases": [
          {
            "mondoId": "MONDO:0017773",
            "name": "Hypoalfalipoproteïnemie",
            "genes": 3,
            "inheritance": null,
            "description": "Omvat de ziekte van Tangier (ABCA1), LCAT-deficiëntie inclusief fish-eye-ziekte, en apolipoproteïne A-I-deficiëntie (APOA1). Deze veroorzaken zeer lage HDL-cholesterolwaarden en kunnen leiden tot troebeling van het hoornvlies, nierziekte, zenuwproblemen of vroegtijdige hartziekte.",
            "management": "Door dit te weten kunt u zeer lage HDL-uitslagen verklaren en ondersteunt het toezicht op nieren, ogen en hart en bloedvaten.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-hypolipoproteinemias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      },
      {
        "slug": "amyloid-deposition",
        "name": "Amyloid deposition",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/amyloid-deposition"
      },
      {
        "slug": "angina-pectoris",
        "name": "Angina pectoris",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/angina-pectoris"
      },
      {
        "slug": "blurred-vision",
        "name": "Blurred vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blurred-vision"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "cardiac-amyloidosis",
        "name": "Cardiac amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiac-amyloidosis"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conjunctival-amyloidosis",
        "name": "Conjunctival amyloidosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conjunctival-amyloidosis"
      },
      {
        "slug": "corneal-arcus",
        "name": "Corneal arcus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-arcus"
      },
      {
        "slug": "cutaneous-amyloidosis",
        "name": "Cutaneous amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutaneous-amyloidosis"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "decreased-circulating-apolipoprotein-a-i-concentration",
        "name": "Decreased circulating apolipoprotein A-I concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-apolipoprotein-a-i-concentration"
      },
      {
        "slug": "decreased-circulating-hdl-c-concentration",
        "name": "Decreased circulating high-density lipoprotein cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-hdl-c-concentration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "generalized-amyloid-deposition",
        "name": "Generalized amyloid deposition",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-amyloid-deposition"
      },
      {
        "slug": "hepatic-amyloidosis",
        "name": "Hepatic amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-amyloidosis"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "infertility",
        "name": "Infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/infertility"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "atherosclerosis",
        "name": "Narrowing and hardening of arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atherosclerosis"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "premature-coronary-artery-atherosclerosis",
        "name": "Premature coronary artery disease",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-coronary-artery-atherosclerosis"
      },
      {
        "slug": "renal-amyloidosis",
        "name": "Renal amyloidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-amyloidosis"
      },
      {
        "slug": "microscopic-hematuria",
        "name": "Small amount of blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microscopic-hematuria"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "tendon-xanthomatosis",
        "name": "Tendon xanthomatosis",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tendon-xanthomatosis"
      },
      {
        "slug": "xanthomatosis",
        "name": "Yellow bumps of fatty deposits on skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xanthomatosis"
      }
    ],
    "related": [
      {
        "slug": "abca1",
        "symbol": "ABCA1",
        "name": "ATP binding cassette subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/abca1"
      },
      {
        "slug": "apoa4",
        "symbol": "APOA4",
        "name": "apolipoprotein A4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/apoa4"
      },
      {
        "slug": "app",
        "symbol": "APP",
        "name": "amyloid beta precursor protein",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/app"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/b2m"
      },
      {
        "slug": "cst3",
        "symbol": "CST3",
        "name": "cystatin C",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cst3"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "name": "fibrinogen alpha chain",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/fga"
      },
      {
        "slug": "gpnmb",
        "symbol": "GPNMB",
        "name": "glycoprotein nmb",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gpnmb"
      },
      {
        "slug": "gsn",
        "symbol": "GSN",
        "name": "gelsolin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gsn"
      },
      {
        "slug": "itm2b",
        "symbol": "ITM2B",
        "name": "integral membrane protein 2B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/itm2b"
      },
      {
        "slug": "lcat",
        "symbol": "LCAT",
        "name": "lecithin-cholesterol acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/lcat"
      },
      {
        "slug": "lyz",
        "symbol": "LYZ",
        "name": "lysozyme",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/lyz"
      },
      {
        "slug": "osmr",
        "symbol": "OSMR",
        "name": "oncostatin M receptor",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/osmr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}