{
  "url": "https://dantelabs.com/it/genes/lfng",
  "gene": {
    "slug": "lfng",
    "symbol": "LFNG",
    "name": "LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase",
    "hgnc": "HGNC:6560",
    "summary": null,
    "location": "7p22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "SCDO3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000106003",
    "entrezId": 3955,
    "omim": [
      "602576"
    ],
    "uniprot": [
      "Q8NES3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 2519774,
      "end": 2528429,
      "strand": "+",
      "ensemblTranscript": "ENST00000222725.10",
      "refseqTranscript": "NM_001040167.2",
      "ensemblProtein": "ENSP00000222725.5",
      "refseqProtein": "NP_001035257.1",
      "exons": [
        {
          "start": 2519774,
          "end": 2520293
        },
        {
          "start": 2524695,
          "end": 2524743
        },
        {
          "start": 2525219,
          "end": 2525318
        },
        {
          "start": 2525414,
          "end": 2525567
        },
        {
          "start": 2525685,
          "end": 2525770
        },
        {
          "start": 2526244,
          "end": 2526409
        },
        {
          "start": 2526836,
          "end": 2526921
        },
        {
          "start": 2527146,
          "end": 2528429
        }
      ],
      "cds": {
        "start": 2519862,
        "end": 2527212
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 2552163,
      "end": 2568811,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 2024102,
      "end": 3024101,
      "genes": [
        {
          "symbol": "MAD1L1",
          "ensemblId": "ENSG00000002822",
          "biotype": "protein_coding",
          "start": 1815787,
          "end": 2233243,
          "strand": "-",
          "slug": "mad1l1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286192",
          "biotype": "protein_coding",
          "start": 1815804,
          "end": 2242215,
          "strand": "-"
        },
        {
          "symbol": "MRM2",
          "ensemblId": "ENSG00000122687",
          "biotype": "protein_coding",
          "start": 2234195,
          "end": 2242229,
          "strand": "-",
          "slug": "mrm2"
        },
        {
          "symbol": "NUDT1",
          "ensemblId": "ENSG00000106268",
          "biotype": "protein_coding",
          "start": 2242203,
          "end": 2251824,
          "strand": "+",
          "slug": "nudt1"
        },
        {
          "symbol": "SNX8",
          "ensemblId": "ENSG00000106266",
          "biotype": "protein_coding",
          "start": 2251770,
          "end": 2354318,
          "strand": "-",
          "slug": "snx8"
        },
        {
          "symbol": "EIF3B",
          "ensemblId": "ENSG00000106263",
          "biotype": "protein_coding",
          "start": 2354080,
          "end": 2380747,
          "strand": "+",
          "slug": "eif3b"
        },
        {
          "symbol": "CHST12",
          "ensemblId": "ENSG00000136213",
          "biotype": "protein_coding",
          "start": 2403442,
          "end": 2448484,
          "strand": "+",
          "slug": "chst12"
        },
        {
          "symbol": "GRIFIN",
          "ensemblId": "ENSG00000275572",
          "biotype": "protein_coding",
          "start": 2474728,
          "end": 2476894,
          "strand": "-",
          "slug": "grifin"
        },
        {
          "symbol": "BRAT1",
          "ensemblId": "ENSG00000106009",
          "biotype": "protein_coding",
          "start": 2537784,
          "end": 2555782,
          "strand": "-",
          "slug": "brat1"
        },
        {
          "symbol": "IQCE",
          "ensemblId": "ENSG00000106012",
          "biotype": "protein_coding",
          "start": 2558903,
          "end": 2614733,
          "strand": "+",
          "slug": "iqce"
        },
        {
          "symbol": "TTYH3",
          "ensemblId": "ENSG00000136295",
          "biotype": "protein_coding",
          "start": 2631898,
          "end": 2664816,
          "strand": "+",
          "slug": "ttyh3"
        },
        {
          "symbol": "AMZ1",
          "ensemblId": "ENSG00000174945",
          "biotype": "protein_coding",
          "start": 2679276,
          "end": 2775500,
          "strand": "+",
          "slug": "amz1"
        },
        {
          "symbol": "GNA12",
          "ensemblId": "ENSG00000146535",
          "biotype": "protein_coding",
          "start": 2721820,
          "end": 2870786,
          "strand": "-",
          "slug": "gna12"
        },
        {
          "symbol": "CARD11",
          "ensemblId": "ENSG00000198286",
          "biotype": "protein_coding",
          "start": 2905881,
          "end": 3044228,
          "strand": "-",
          "slug": "card11"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Glicosilazione congenita disturbata (CDG)",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Glicosilazione congenita disturbata (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Un ampio gruppo di condizioni ereditarie in cui le catene di zuccheri (glicani) non vengono costruite o attaccate correttamente a proteine e lipidi, con effetti spesso su cervello, fegato, coagulazione del sangue, crescita e molti altri sistemi dell'organismo. La maggior parte è autosomica recessiva, ma alcune sono legate al cromosoma X o autosomiche dominanti.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-intervertebral-disk-morphology",
        "name": "Abnormal intervertebral disk morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-intervertebral-disk-morphology"
      },
      {
        "slug": "abnormal-morphology-of-female-internal-genitalia",
        "name": "Abnormal morphology of female internal genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormality-of-immune-system-physiology",
        "name": "Abnormality of immune system physiology",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-immune-system-physiology"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-rib-morphology"
      },
      {
        "slug": "abnormality-of-the-ureter",
        "name": "Abnormality of the ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-ureter"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anomalous-pulmonary-venous-return",
        "name": "Anomalous pulmonary venous return",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anomalous-pulmonary-venous-return"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Congenital diaphragmatic hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia"
      },
      {
        "slug": "contracture-of-the-proximal-interphalangeal-joint-of-the-2nd-finger",
        "name": "Contracture of the proximal interphalangeal joint of the 2nd finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/contracture-of-the-proximal-interphalangeal-joint-of-the-2nd-finger"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "finger-syndactyly",
        "name": "Finger syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/finger-syndactyly"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hypoplasia-of-the-odontoid-process",
        "name": "Hypoplasia of the odontoid process",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-odontoid-process"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "meningocele",
        "name": "Meningocele",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningocele"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-occiput",
        "name": "Prominent back of the head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-occiput"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "rib-fusion",
        "name": "Rib fusion",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rib-fusion"
      },
      {
        "slug": "rib-segmentation-abnormalities",
        "name": "Rib segmentation abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rib-segmentation-abnormalities"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "slender-finger",
        "name": "Slender finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/slender-finger"
      },
      {
        "slug": "spina-bifida-occulta",
        "name": "Spina bifida occulta",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spina-bifida-occulta"
      },
      {
        "slug": "supernumerary-vertebral-ossification-centers",
        "name": "Supernumerary vertebral ossification centers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/supernumerary-vertebral-ossification-centers"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urogenital-fistula",
        "name": "Urogenital fistula",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urogenital-fistula"
      },
      {
        "slug": "vertebral-segmentation-defect",
        "name": "Vertebral segmentation defect",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vertebral-segmentation-defect"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}