{
  "url": "https://dantelabs.com/el/genes/st3gal3",
  "gene": {
    "slug": "st3gal3",
    "symbol": "ST3GAL3",
    "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3",
    "hgnc": "HGNC:10866",
    "summary": null,
    "location": "1p34.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "SIAT6",
      "MRT12"
    ],
    "ensemblId": "ENSG00000126091",
    "entrezId": 6487,
    "omim": [
      "606494"
    ],
    "uniprot": [
      "Q11203"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 43707536,
      "end": 43931159,
      "strand": "+",
      "ensemblTranscript": "ENST00000347631.8",
      "refseqTranscript": "NM_006279.5",
      "ensemblProtein": "ENSP00000317192.6",
      "refseqProtein": "NP_006270.1",
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        {
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        }
      ],
      "cds": {
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        "end": 43930221
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
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      "end": 44396831,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "TIE1",
          "ensemblId": "ENSG00000066056",
          "biotype": "protein_coding",
          "start": 43300958,
          "end": 43325215,
          "strand": "+",
          "slug": "tie1"
        },
        {
          "symbol": "MPL",
          "ensemblId": "ENSG00000117400",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "mpl"
        },
        {
          "symbol": "CDC20",
          "ensemblId": "ENSG00000117399",
          "biotype": "protein_coding",
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          "end": 43363212,
          "strand": "+",
          "slug": "cdc20"
        },
        {
          "symbol": "ELOVL1",
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          "strand": "-",
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        {
          "symbol": "MED8",
          "ensemblId": "ENSG00000159479",
          "biotype": "protein_coding",
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          "end": 43389823,
          "strand": "-",
          "slug": "med8"
        },
        {
          "symbol": "SZT2",
          "ensemblId": "ENSG00000198198",
          "biotype": "protein_coding",
          "start": 43389882,
          "end": 43454247,
          "strand": "+",
          "slug": "szt2"
        },
        {
          "symbol": "HYI",
          "ensemblId": "ENSG00000178922",
          "biotype": "protein_coding",
          "start": 43450597,
          "end": 43453999,
          "strand": "-",
          "slug": "hyi"
        },
        {
          "symbol": "PTPRF",
          "ensemblId": "ENSG00000142949",
          "biotype": "protein_coding",
          "start": 43525086,
          "end": 43626579,
          "strand": "+",
          "slug": "ptprf"
        },
        {
          "symbol": "KDM4A",
          "ensemblId": "ENSG00000066135",
          "biotype": "protein_coding",
          "start": 43649256,
          "end": 43705518,
          "strand": "+",
          "slug": "kdm4a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284989",
          "biotype": "protein_coding",
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          "strand": "+"
        },
        {
          "symbol": "ARTN",
          "ensemblId": "ENSG00000117407",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "artn"
        },
        {
          "symbol": "IPO13",
          "ensemblId": "ENSG00000117408",
          "biotype": "protein_coding",
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          "slug": "ipo13"
        },
        {
          "symbol": "DPH2",
          "ensemblId": "ENSG00000132768",
          "biotype": "protein_coding",
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          "end": 43973373,
          "strand": "+",
          "slug": "dph2"
        },
        {
          "symbol": "ATP6V0B",
          "ensemblId": "ENSG00000117410",
          "biotype": "protein_coding",
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          "end": 43978299,
          "strand": "+",
          "slug": "atp6v0b"
        },
        {
          "symbol": "B4GALT2",
          "ensemblId": "ENSG00000117411",
          "biotype": "protein_coding",
          "start": 43978943,
          "end": 43991173,
          "strand": "+",
          "slug": "b4galt2"
        },
        {
          "symbol": "SLC6A9",
          "ensemblId": "ENSG00000196517",
          "biotype": "protein_coding",
          "start": 43989353,
          "end": 44031767,
          "strand": "-",
          "slug": "slc6a9"
        },
        {
          "symbol": "CCDC24",
          "ensemblId": "ENSG00000159214",
          "biotype": "protein_coding",
          "start": 43991352,
          "end": 43996529,
          "strand": "+",
          "slug": "ccdc24"
        },
        {
          "symbol": "KLF17",
          "ensemblId": "ENSG00000171872",
          "biotype": "protein_coding",
          "start": 44118821,
          "end": 44135387,
          "strand": "+",
          "slug": "klf17"
        },
        {
          "symbol": "KLF18",
          "ensemblId": "ENSG00000283039",
          "biotype": "protein_coding",
          "start": 44137821,
          "end": 44141631,
          "strand": "-",
          "slug": "klf18"
        },
        {
          "symbol": "DMAP1",
          "ensemblId": "ENSG00000178028",
          "biotype": "protein_coding",
          "start": 44213427,
          "end": 44230038,
          "strand": "+",
          "slug": "dmap1"
        },
        {
          "symbol": "ERI3",
          "ensemblId": "ENSG00000117419",
          "biotype": "protein_coding",
          "start": 44221070,
          "end": 44355267,
          "strand": "-",
          "slug": "eri3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Συγγενείς διαταραχές της γλυκοζυλίωσης",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Συγγενείς διαταραχές της γλυκοζυλίωσης (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Μια μεγάλη ομάδα κληρονομικών παθήσεων κατά τις οποίες οι αλυσίδες σακχάρων (γλυκάνες) δεν σχηματίζονται ή δεν προσδένονται σωστά στις πρωτεΐνες και στα λιπίδια, συχνά επηρεάζοντας τον εγκέφαλο, το ήπαρ, την πήξη του αίματος, την ανάπτυξη και πολλά άλλα συστήματα του οργανισμού. Οι περισσότερες είναι αυτοσωματικές υπολειπόμενες, ενώ ορισμένες είναι συνδεδεμένες με το X ή αυτοσωματικές επικρατούσες.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/disorder-of-glycosylation"
      },
      {
        "slug": "epilepsy-report",
        "name": "Επιληψία (Πλήρες Πάνελ)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Επιληψία",
            "genes": 171,
            "inheritance": null,
            "description": "Εγκεφαλική διαταραχή που χαρακτηρίζεται από επεισόδια παθολογικά αυξημένης νευρωνικής εκφόρτισης, που έχουν ως αποτέλεσμα παροδικά επεισόδια αισθητηριακής ή κινητικής νευρολογικής δυσλειτουργίας ή ψυχικής δυσλειτουργίας. Τα επεισόδια αυτά μπορεί να σχετίζονται ή να μην σχετίζονται με απώλεια συνείδησης ή σπασμούς.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/epilepsy-report"
      },
      {
        "slug": "intellectual-disability",
        "name": "Νοητική αναπηρία",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "νοητική αναπηρία",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "epileptic-spasm",
        "name": "Epileptic spasm",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epileptic-spasm"
      },
      {
        "slug": "focal-clonic-seizure",
        "name": "Focal clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-clonic-seizure"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "myoclonic-seizure",
        "name": "Myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "primitive-reflex",
        "name": "Primitive reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/primitive-reflex"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "atonic-seizure",
        "name": "Sudden loss of muscle tone",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atonic-seizure"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      }
    ],
    "related": [
      {
        "slug": "atp6ap2",
        "symbol": "ATP6AP2",
        "name": "ATPase H+ transporting accessory protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/atp6ap2"
      },
      {
        "slug": "nus1",
        "symbol": "NUS1",
        "name": "NUS1 dehydrodolichyl diphosphate synthase subunit",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/nus1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/alg13"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/arhgef9"
      },
      {
        "slug": "cad",
        "symbol": "CAD",
        "name": "carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/cad"
      },
      {
        "slug": "fgf13",
        "symbol": "FGF13",
        "name": "fibroblast growth factor 13",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/fgf13"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/grin1"
      },
      {
        "slug": "grin2b",
        "symbol": "GRIN2B",
        "name": "glutamate ionotropic receptor NMDA type subunit 2B",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/grin2b"
      },
      {
        "slug": "kctd7",
        "symbol": "KCTD7",
        "name": "potassium channel tetramerization domain containing 7",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/kctd7"
      },
      {
        "slug": "man1b1",
        "symbol": "MAN1B1",
        "name": "mannosidase alpha class 1B member 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/man1b1"
      },
      {
        "slug": "mecp2",
        "symbol": "MECP2",
        "name": "methyl-CpG binding protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/mecp2"
      },
      {
        "slug": "nacc1",
        "symbol": "NACC1",
        "name": "nucleus accumbens associated 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/nacc1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}