{
  "url": "https://dantelabs.com/lt/genes/slc35d1",
  "gene": {
    "slug": "slc35d1",
    "symbol": "SLC35D1",
    "name": "solute carrier family 35 member D1",
    "hgnc": "HGNC:20800",
    "summary": null,
    "location": "1p31.3",
    "locusType": "gene with protein product",
    "aliases": [
      "UGTREL7",
      "KIAA0260"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000116704",
    "entrezId": 23169,
    "omim": [
      "610804"
    ],
    "uniprot": [
      "Q9NTN3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 66999350,
      "end": 67054148,
      "strand": "-",
      "ensemblTranscript": "ENST00000235345.6",
      "refseqTranscript": "NM_015139.3",
      "ensemblProtein": "ENSP00000235345.5",
      "refseqProtein": "NP_055954.1",
      "exons": [
        {
          "start": 66999350,
          "end": 67004448
        },
        {
          "start": 67009085,
          "end": 67009167
        },
        {
          "start": 67020369,
          "end": 67020447
        },
        {
          "start": 67021535,
          "end": 67021602
        },
        {
          "start": 67042236,
          "end": 67042328
        },
        {
          "start": 67047265,
          "end": 67047367
        },
        {
          "start": 67049782,
          "end": 67049850
        },
        {
          "start": 67050433,
          "end": 67050504
        },
        {
          "start": 67052012,
          "end": 67052079
        },
        {
          "start": 67052771,
          "end": 67052857
        },
        {
          "start": 67052956,
          "end": 67052989
        },
        {
          "start": 67053811,
          "end": 67054148
        }
      ],
      "cds": {
        "start": 67004340,
        "end": 67054013
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 67465015,
      "end": 67519782,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 66526749,
      "end": 67526748,
      "genes": [
        {
          "symbol": "SGIP1",
          "ensemblId": "ENSG00000118473",
          "biotype": "protein_coding",
          "start": 66533267,
          "end": 66751139,
          "strand": "+",
          "slug": "sgip1"
        },
        {
          "symbol": "DYNLT5",
          "ensemblId": "ENSG00000152760",
          "biotype": "protein_coding",
          "start": 66751741,
          "end": 66779051,
          "strand": "+",
          "slug": "dynlt5"
        },
        {
          "symbol": "INSL5",
          "ensemblId": "ENSG00000172410",
          "biotype": "protein_coding",
          "start": 66797740,
          "end": 66801276,
          "strand": "-",
          "slug": "insl5"
        },
        {
          "symbol": "DNAI4",
          "ensemblId": "ENSG00000152763",
          "biotype": "protein_coding",
          "start": 66812885,
          "end": 66924890,
          "strand": "-",
          "slug": "dnai4"
        },
        {
          "symbol": "MIER1",
          "ensemblId": "ENSG00000198160",
          "biotype": "protein_coding",
          "start": 66924895,
          "end": 66989411,
          "strand": "+",
          "slug": "mier1"
        },
        {
          "symbol": "C1orf141",
          "ensemblId": "ENSG00000203963",
          "biotype": "protein_coding",
          "start": 67092005,
          "end": 67231853,
          "strand": "-",
          "slug": "c1orf141"
        },
        {
          "symbol": "IL23R",
          "ensemblId": "ENSG00000162594",
          "biotype": "protein_coding",
          "start": 67138907,
          "end": 67265873,
          "strand": "+",
          "slug": "il23r"
        },
        {
          "symbol": "IL12RB2",
          "ensemblId": "ENSG00000081985",
          "biotype": "protein_coding",
          "start": 67307364,
          "end": 67398724,
          "strand": "+",
          "slug": "il12rb2"
        },
        {
          "symbol": "SERBP1",
          "ensemblId": "ENSG00000142864",
          "biotype": "protein_coding",
          "start": 67406389,
          "end": 67430418,
          "strand": "-",
          "slug": "serbp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Kongenitalinės glikozilinimo sutrikimai",
        "diseases": [
          {
            "mondoId": "MONDO:0010013",
            "name": "Schneckenbecken displazija",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Prenatališkai letali skeleto displazija (chondrodisplazija su sraigės formos dubeniu), kurią sukelia nukleotidų cukraus transporterio geno SLC35D1 variantai.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-fingernail-morphology",
        "name": "Abnormal fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology"
      },
      {
        "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": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "advanced-tarsal-ossification",
        "name": "Accelerated ankle bone maturation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/advanced-tarsal-ossification"
      },
      {
        "slug": "advanced-ossification-of-carpal-bones",
        "name": "Accelerated wrist bone maturation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/advanced-ossification-of-carpal-bones"
      },
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "anterior-rib-cupping",
        "name": "Anterior rib cupping",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/anterior-rib-cupping"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "bilateral-talipes-equinovarus",
        "name": "Club foot on both sides",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-talipes-equinovarus"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "dumbbell-shaped-long-bone",
        "name": "Dumbbell-shaped long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dumbbell-shaped-long-bone"
      },
      {
        "slug": "flat-acetabular-roof",
        "name": "Flat acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flat-acetabular-roof"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "lateral-clavicle-hook",
        "name": "Hook-shaped collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lateral-clavicle-hook"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "narrow-vertebral-interpedicular-distance",
        "name": "Narrow vertebral interpedicular distance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-vertebral-interpedicular-distance"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "ovoid-vertebral-bodies",
        "name": "Ovoid vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ovoid-vertebral-bodies"
      },
      {
        "slug": "fibular-hypoplasia",
        "name": "Short calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fibular-hypoplasia"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "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-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-ribs",
        "name": "Short ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-ribs"
      },
      {
        "slug": "thoracic-hypoplasia",
        "name": "Small chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thoracic-hypoplasia"
      },
      {
        "slug": "hypoplastic-scapulae",
        "name": "Small shoulder blade",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-scapulae"
      },
      {
        "slug": "hypoplastic-ilia",
        "name": "Small wings of the pelvic girdle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-ilia"
      },
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "snail-like-ilia",
        "name": "Snail-like ilia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/snail-like-ilia"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "diaphyseal-undertubulation",
        "name": "Thickening of shaft or central part of long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diaphyseal-undertubulation"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypoplastic-vertebral-bodies",
        "name": "Underdeveloped back bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-vertebral-bodies"
      },
      {
        "slug": "hypoplastic-toenails",
        "name": "Underdeveloped toenails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-toenails"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "increased-fibular-diameter",
        "name": "Wide calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-fibular-diameter"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}