{
  "url": "https://dantelabs.com/fr/genes/angptl3",
  "gene": {
    "slug": "angptl3",
    "symbol": "ANGPTL3",
    "name": "angiopoietin like 3",
    "hgnc": "HGNC:491",
    "summary": null,
    "location": "1p31.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "ANGPT5"
    ],
    "ensemblId": "ENSG00000132855",
    "entrezId": 27329,
    "omim": [
      "604774"
    ],
    "uniprot": [
      "Q9Y5C1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 62597520,
      "end": 62606313,
      "strand": "+",
      "ensemblTranscript": "ENST00000371129.4",
      "refseqTranscript": "NM_014495.4",
      "ensemblProtein": "ENSP00000360170.3",
      "refseqProtein": "NP_055310.1",
      "exons": [
        {
          "start": 62597520,
          "end": 62598061
        },
        {
          "start": 62598696,
          "end": 62598806
        },
        {
          "start": 62601082,
          "end": 62601196
        },
        {
          "start": 62601769,
          "end": 62601882
        },
        {
          "start": 62602285,
          "end": 62602380
        },
        {
          "start": 62603969,
          "end": 62604235
        },
        {
          "start": 62604633,
          "end": 62606313
        }
      ],
      "cds": {
        "start": 62597567,
        "end": 62604817
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 63063158,
      "end": 63071830,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 62101917,
      "end": 63101916,
      "genes": [
        {
          "symbol": "PATJ",
          "ensemblId": "ENSG00000132849",
          "biotype": "protein_coding",
          "start": 61742291,
          "end": 62180553,
          "strand": "+",
          "slug": "patj"
        },
        {
          "symbol": "L1TD1",
          "ensemblId": "ENSG00000240563",
          "biotype": "protein_coding",
          "start": 62194257,
          "end": 62235060,
          "strand": "+",
          "slug": "l1td1"
        },
        {
          "symbol": "KANK4",
          "ensemblId": "ENSG00000132854",
          "biotype": "protein_coding",
          "start": 62236165,
          "end": 62319434,
          "strand": "-",
          "slug": "kank4"
        },
        {
          "symbol": "USP1",
          "ensemblId": "ENSG00000162607",
          "biotype": "protein_coding",
          "start": 62436041,
          "end": 62454457,
          "strand": "+",
          "slug": "usp1"
        },
        {
          "symbol": "DOCK7",
          "ensemblId": "ENSG00000116641",
          "biotype": "protein_coding",
          "start": 62454298,
          "end": 62688549,
          "strand": "-",
          "slug": "dock7"
        },
        {
          "symbol": "ATG4C",
          "ensemblId": "ENSG00000125703",
          "biotype": "protein_coding",
          "start": 62783821,
          "end": 62866217,
          "strand": "+",
          "slug": "atg4c"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-hypolipoproteinemias",
        "name": "Hypolipoprotéinémies héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0017774",
            "name": "Hypobêtalipoprotéinémie",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Comprend l'abêtalipoprotéinémie (MTTP), l'hypobêtalipoprotéinémie familiale (APOB, ANGPTL3) et la maladie de rétention des chylomicrons (SAR1B). Les formes sévères entraînent une malabsorption des graisses et une carence en vitamine E, pouvant provoquer des lésions nerveuses et rétiniennes, tandis que les formes légères de porteur peuvent simplement abaisser le cholestérol LDL et augmenter la graisse hépatique.",
            "management": "Connaître ce résultat permet d'adopter un régime pauvre en graisses avec une supplémentation à forte dose en vitamine E et en autres vitamines liposolubles dans les formes sévères, ce qui peut prévenir ou limiter les lésions nerveuses et oculaires.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hereditary-hypolipoproteinemias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-circulating-ldl-c-concentration",
        "name": "Decreased circulating LDL-C concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-ldl-c-concentration"
      },
      {
        "slug": "hypotriglyceridemia",
        "name": "Low blood triglyceride levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypotriglyceridemia"
      }
    ],
    "related": [
      {
        "slug": "apob",
        "symbol": "APOB",
        "name": "apolipoprotein B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/apob"
      },
      {
        "slug": "mttp",
        "symbol": "MTTP",
        "name": "microsomal triglyceride transfer protein",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/mttp"
      },
      {
        "slug": "sar1b",
        "symbol": "SAR1B",
        "name": "secretion associated Ras related GTPase 1B",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/sar1b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}