{
  "url": "https://dantelabs.com/lt/genes/b4galt1",
  "gene": {
    "slug": "b4galt1",
    "symbol": "B4GALT1",
    "name": "beta-1,4-galactosyltransferase 1",
    "hgnc": "HGNC:924",
    "summary": null,
    "location": "9p21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "beta4Gal-T1"
    ],
    "previousSymbols": [
      "GGTB2"
    ],
    "ensemblId": "ENSG00000086062",
    "entrezId": 2683,
    "omim": [
      "137060"
    ],
    "uniprot": [
      "P15291"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 33110642,
      "end": 33167336,
      "strand": "-",
      "ensemblTranscript": "ENST00000379731.5",
      "refseqTranscript": "NM_001497.4",
      "ensemblProtein": "ENSP00000369055.4",
      "refseqProtein": "NP_001488.2",
      "exons": [
        {
          "start": 33110642,
          "end": 33113586
        },
        {
          "start": 33113774,
          "end": 33113878
        },
        {
          "start": 33115991,
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        },
        {
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          "end": 33120606
        },
        {
          "start": 33135189,
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        },
        {
          "start": 33166758,
          "end": 33167336
        }
      ],
      "cds": {
        "start": 33113454,
        "end": 33167169
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 33104080,
      "end": 33167354,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 32638989,
      "end": 33638988,
      "genes": [
        {
          "symbol": "TMEM215",
          "ensemblId": "ENSG00000188133",
          "biotype": "protein_coding",
          "start": 32783535,
          "end": 32789201,
          "strand": "+",
          "slug": "tmem215"
        },
        {
          "symbol": "APTX",
          "ensemblId": "ENSG00000137074",
          "biotype": "protein_coding",
          "start": 32886601,
          "end": 33025176,
          "strand": "-",
          "slug": "aptx"
        },
        {
          "symbol": "DNAJA1",
          "ensemblId": "ENSG00000086061",
          "biotype": "protein_coding",
          "start": 33025203,
          "end": 33041858,
          "strand": "+",
          "slug": "dnaja1"
        },
        {
          "symbol": "SMU1",
          "ensemblId": "ENSG00000122692",
          "biotype": "protein_coding",
          "start": 33041765,
          "end": 33081411,
          "strand": "-",
          "slug": "smu1"
        },
        {
          "symbol": "SPINK4",
          "ensemblId": "ENSG00000122711",
          "biotype": "protein_coding",
          "start": 33218365,
          "end": 33248567,
          "strand": "+",
          "slug": "spink4"
        },
        {
          "symbol": "BAG1",
          "ensemblId": "ENSG00000107262",
          "biotype": "protein_coding",
          "start": 33247820,
          "end": 33264720,
          "strand": "-",
          "slug": "bag1"
        },
        {
          "symbol": "CHMP5",
          "ensemblId": "ENSG00000086065",
          "biotype": "protein_coding",
          "start": 33264017,
          "end": 33282071,
          "strand": "+",
          "slug": "chmp5"
        },
        {
          "symbol": "NFX1",
          "ensemblId": "ENSG00000086102",
          "biotype": "protein_coding",
          "start": 33290428,
          "end": 33372467,
          "strand": "+",
          "slug": "nfx1"
        },
        {
          "symbol": "AQP7",
          "ensemblId": "ENSG00000165269",
          "biotype": "protein_coding",
          "start": 33383133,
          "end": 33437236,
          "strand": "-",
          "slug": "aqp7"
        },
        {
          "symbol": "AQP3",
          "ensemblId": "ENSG00000165272",
          "biotype": "protein_coding",
          "start": 33441156,
          "end": 33447596,
          "strand": "-",
          "slug": "aqp3"
        },
        {
          "symbol": "NOL6",
          "ensemblId": "ENSG00000165271",
          "biotype": "protein_coding",
          "start": 33461353,
          "end": 33473930,
          "strand": "-",
          "slug": "nol6"
        },
        {
          "symbol": "ANKRD18B",
          "ensemblId": "ENSG00000230453",
          "biotype": "protein_coding",
          "start": 33523522,
          "end": 33608848,
          "strand": "+",
          "slug": "ankrd18b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Kongenitalinės glikozilinimo sutrikimai",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Kongenitalinės glikozilinimo sutrikimai (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Didelė paveldimų ligų grupė, kai cukraus grandinės (glikanai) netinkamai susidaro arba netinkamai prisijungia prie baltymų ir lipidų, dažnai pažeidžiančios smegenis, kepenis, kraujo krešėjimą, augimą ir daugelį kitų organų sistemų. Dauguma yra autosominiu recesyviniu būdu paveldimi, tačiau kai kurios yra X chromosomos susietos arba autosominiu dominantiniu būdu paveldimos.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-isoelectric-focusing-of-serum-transferrin",
        "name": "Abnormal isoelectric focusing of serum transferrin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-isoelectric-focusing-of-serum-transferrin"
      },
      {
        "slug": "abnormality-of-the-coagulation-cascade",
        "name": "Abnormality of the coagulation cascade",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-coagulation-cascade"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "decreased-circulating-ldl-c-concentration",
        "name": "Decreased circulating LDL-C concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-ldl-c-concentration"
      },
      {
        "slug": "decreased-muscle-mass",
        "name": "Decreased muscle mass",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-muscle-mass"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "inflammatory-abnormality-of-the-skin",
        "name": "Inflammatory abnormality of the skin",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inflammatory-abnormality-of-the-skin"
      },
      {
        "slug": "inverted-nipples",
        "name": "Inverted nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inverted-nipples"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "prolonged-partial-thromboplastin-time",
        "name": "Prolonged partial thromboplastin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-partial-thromboplastin-time"
      },
      {
        "slug": "reduced-antithrombin-iii-activity",
        "name": "Reduced antithrombin III activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-antithrombin-iii-activity"
      },
      {
        "slug": "reduced-protein-c-activity",
        "name": "Reduced protein C activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-protein-c-activity"
      },
      {
        "slug": "reduced-protein-s-activity",
        "name": "Reduced protein S activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-protein-s-activity"
      },
      {
        "slug": "redundant-neck-skin",
        "name": "Redundant neck skin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/redundant-neck-skin"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "type-ii-transferrin-isoform-profile",
        "name": "Type II transferrin isoform profile",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/type-ii-transferrin-isoform-profile"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}