{
  "url": "https://dantelabs.com/el/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": "Κληρονομικές υπολιποπρωτεϊναιμίες",
        "diseases": [
          {
            "mondoId": "MONDO:0017774",
            "name": "Υποβηταλιποπρωτεϊναιμία",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Περιλαμβάνει την αβηταλιποπρωτεϊναιμία (MTTP), την οικογενή υποβηταλιποπρωτεϊναιμία (APOB, ANGPTL3) και τη νόσο συγκράτησης χυλομικρών (SAR1B). Οι σοβαρές μορφές προκαλούν δυσαπορρόφηση λίπους και έλλειψη βιταμίνης Ε, που οδηγεί σε βλάβες στα νεύρα και στον αμφιβληστροειδή, ενώ οι ήπιες μορφές φορέων μπορεί απλώς να μειώνουν τη χοληστερόλη LDL και να αυξάνουν το λίπος του ήπατος.",
            "management": "Η γνώση επιτρέπει δίαιτα χαμηλή σε λιπαρά με βιταμίνη Ε σε υψηλή δόση και άλλες λιποδιαλυτές βιταμίνες στις σοβαρές μορφές, κάτι που μπορεί να προλάβει ή να περιορίσει τις βλάβες στα νεύρα και στα μάτια.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/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/el/genes/apob"
      },
      {
        "slug": "mttp",
        "symbol": "MTTP",
        "name": "microsomal triglyceride transfer protein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mttp"
      },
      {
        "slug": "sar1b",
        "symbol": "SAR1B",
        "name": "secretion associated Ras related GTPase 1B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/sar1b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}