{
  "url": "https://dantelabs.com/ro/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": "Hipolipoproteinemii ereditare",
        "diseases": [
          {
            "mondoId": "MONDO:0017774",
            "name": "Hipobetalipoproteinemie",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Include abetalipoproteinemia (MTTP), hipobetalipoproteinemia familială (APOB, ANGPTL3) și boala de reținere a chilomicronilor (SAR1B). Formele severe provoacă malabsorbție a grăsimilor și deficit de vitamina E, care duc la afectarea nervilor și a retinei, în timp ce formele ușoare de purtător pot doar să scadă colesterolul LDL și pot crește grăsimea din ficat.",
            "management": "Cunoașterea acestei afecțiuni permite o dietă săracă în grăsimi, cu vitamina E în doze mari și alte vitamine liposolubile în formele severe, ceea ce poate preveni sau limita afectarea nervilor și a ochilor.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/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/ro/genes/apob"
      },
      {
        "slug": "mttp",
        "symbol": "MTTP",
        "name": "microsomal triglyceride transfer protein",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/mttp"
      },
      {
        "slug": "sar1b",
        "symbol": "SAR1B",
        "name": "secretion associated Ras related GTPase 1B",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/sar1b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}