{
  "url": "https://dantelabs.com/it/genes/upb1",
  "gene": {
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    "name": "beta-ureidopropionase 1",
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        {
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        {
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        {
          "symbol": "",
          "ensemblId": "ENSG00000286070",
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        {
          "symbol": "LRRC75B",
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        {
          "symbol": "GGT1",
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        {
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          "slug": "piwil3"
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        {
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        {
          "symbol": "LHFPL7",
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          "strand": "-",
          "slug": "lhfpl7"
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        {
          "symbol": "KIAA1671",
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          "biotype": "protein_coding",
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          "slug": "kiaa1671"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "beta-ureidopropionase-deficiency",
        "name": "Deficit di beta-ureidopropionasi",
        "diseases": [
          {
            "mondoId": "MONDO:0013164",
            "name": "Deficit di beta-ureidopropionasi",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/beta-ureidopropionase-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "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": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "bladder-exstrophy",
        "name": "Bladder exstrophy",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/bladder-exstrophy"
      },
      {
        "slug": "bifid-scrotum",
        "name": "Cleft of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/bifid-scrotum"
      },
      {
        "slug": "cortical-dysplasia",
        "name": "Cortical dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cortical-dysplasia"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-myelination",
        "name": "Delayed myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-myelination"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-n-carbamoyl-beta-alanine-concentration",
        "name": "Elevated circulating N-carbamoyl-beta-alanine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-n-carbamoyl-beta-alanine-concentration"
      },
      {
        "slug": "elevated-circulating-n-carbamyl-beta-aminoisobutyric-acid-concentration",
        "name": "Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-n-carbamyl-beta-aminoisobutyric-acid-concentration"
      },
      {
        "slug": "elevated-csf-n-carbamyl-beta-alanine-concentration",
        "name": "Elevated CSF N-carbamyl-beta-alanine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-csf-n-carbamyl-beta-alanine-concentration"
      },
      {
        "slug": "elevated-csf-n-carbamyl-beta-aminoisobutyric-acid-concentration",
        "name": "Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-csf-n-carbamyl-beta-aminoisobutyric-acid-concentration"
      },
      {
        "slug": "elevated-urinary-dihydrothymine-level",
        "name": "Elevated urinary dihydrothymine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dihydrothymine-level"
      },
      {
        "slug": "elevated-urinary-dihydrouracil-level",
        "name": "Elevated urinary dihydrouracil level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dihydrouracil-level"
      },
      {
        "slug": "elevated-urinary-n-carbamoyl-beta-alanine-level",
        "name": "Elevated urinary N-carbamoyl-beta-alanine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-n-carbamoyl-beta-alanine-level"
      },
      {
        "slug": "elevated-urinary-n-carbamyl-beta-aminoisobutyric-acid-level",
        "name": "Elevated urinary N-carbamyl-beta-aminoisobutyric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-n-carbamyl-beta-aminoisobutyric-acid-level"
      },
      {
        "slug": "elevated-urinary-ureidoisobutyric-acid-level",
        "name": "Elevated urinary ureidoisobutyric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-ureidoisobutyric-acid-level"
      },
      {
        "slug": "elevated-urinary-ureidopropionic-acid-level",
        "name": "Elevated urinary ureidopropionic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-ureidopropionic-acid-level"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "loss-of-consciousness",
        "name": "Loss of consciousness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-consciousness"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "reduced-hepatic-beta-ureidopropionase-activity",
        "name": "Reduced hepatic beta-ureidopropionase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-hepatic-beta-ureidopropionase-activity"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}