{
  "url": "https://dantelabs.com/hu/genes/nags",
  "gene": {
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    "symbol": "NAGS",
    "name": "N-acetylglutamate synthase",
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      "Q8N159"
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      "refseqProtein": "NP_694551.1",
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    },
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        {
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        {
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        {
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        {
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        {
          "symbol": "DUSP3",
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        {
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        },
        {
          "symbol": "CD300LG",
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          "strand": "+",
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        {
          "symbol": "MPP2",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "PPY",
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          "slug": "ppy"
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        {
          "symbol": "PYY",
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        {
          "symbol": "TMEM101",
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          "slug": "tmem101"
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        {
          "symbol": "LSM12",
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        {
          "symbol": "G6PC3",
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        {
          "symbol": "HDAC5",
          "ensemblId": "ENSG00000108840",
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        {
          "symbol": "HROB",
          "ensemblId": "ENSG00000125319",
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          "strand": "+",
          "slug": "hrob"
        },
        {
          "symbol": "ASB16",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "TMUB2",
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        },
        {
          "symbol": "ATXN7L3",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "UBTF",
          "ensemblId": "ENSG00000108312",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ubtf"
        },
        {
          "symbol": "SLC4A1",
          "ensemblId": "ENSG00000004939",
          "biotype": "protein_coding",
          "start": 44248390,
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          "strand": "-",
          "slug": "slc4a1"
        },
        {
          "symbol": "RUNDC3A",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "rundc3a"
        },
        {
          "symbol": "SLC25A39",
          "ensemblId": "ENSG00000013306",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "slc25a39"
        },
        {
          "symbol": "GRN",
          "ensemblId": "ENSG00000030582",
          "biotype": "protein_coding",
          "start": 44345108,
          "end": 44353106,
          "strand": "+",
          "slug": "grn"
        },
        {
          "symbol": "FAM171A2",
          "ensemblId": "ENSG00000161682",
          "biotype": "protein_coding",
          "start": 44353215,
          "end": 44363875,
          "strand": "-",
          "slug": "fam171a2"
        },
        {
          "symbol": "ITGA2B",
          "ensemblId": "ENSG00000005961",
          "biotype": "protein_coding",
          "start": 44372177,
          "end": 44389649,
          "strand": "-",
          "slug": "itga2b"
        },
        {
          "symbol": "GPATCH8",
          "ensemblId": "ENSG00000186566",
          "biotype": "protein_coding",
          "start": 44395281,
          "end": 44503639,
          "strand": "-",
          "slug": "gpatch8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "urea-cycle-disorder",
        "name": "Urea Cycle Disorder",
        "diseases": [
          {
            "mondoId": "MONDO:0004739",
            "name": "Urea Cycle Disorder",
            "genes": 11,
            "inheritance": null,
            "description": "A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.",
            "management": "Nitrogen scavenger therapy (sodium benzoate, glycerol phenylbutyrate/Ravicti); protein-restricted diet with essential amino acid supplementation; emergency hyperammonemia protocols; liver transplantation (curative); mRNA therapy trials for OTC; carglumic acid for NAGS deficiency",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/urea-cycle-disorder"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "acute-hyperammonemia",
        "name": "Acute hyperammonemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-hyperammonemia"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "alkalosis",
        "name": "Alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/alkalosis"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "clonic-seizure",
        "name": "Clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clonic-seizure"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "confusion",
        "name": "Confusion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/confusion"
      },
      {
        "slug": "decreased-circulating-citrulline-concentration",
        "name": "Decreased circulating citrulline concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-citrulline-concentration"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "delirium",
        "name": "Delirium",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/delirium"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "insomnia",
        "name": "Difficulty staying or falling asleep",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/insomnia"
      },
      {
        "slug": "cerebral-ischemia",
        "name": "Disruption of blood oxygen supply to brain",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cerebral-ischemia"
      },
      {
        "slug": "drowsiness",
        "name": "Drowsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/drowsiness"
      },
      {
        "slug": "echolalia",
        "name": "Echoing another person's speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/echolalia"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperglutamatemia",
        "name": "High blood glutamate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglutamatemia"
      },
      {
        "slug": "hyperglutaminemia",
        "name": "High plasma glutamine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglutaminemia"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "paraplegia",
        "name": "Leg paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/paraplegia"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "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": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "poor-appetite",
        "name": "Poor appetite",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-appetite"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "psychotic-episodes",
        "name": "Psychotic episodes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/psychotic-episodes"
      },
      {
        "slug": "reduced-hepatic-n-acetylglutamate-synthase-activity",
        "name": "Reduced hepatic N-acetylglutamate synthase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-hepatic-n-acetylglutamate-synthase-activity"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "reye-syndrome-like-episodes",
        "name": "Reye syndrome-like episodes",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/reye-syndrome-like-episodes"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "arg1",
        "symbol": "ARG1",
        "name": "arginase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/arg1"
      },
      {
        "slug": "asl",
        "symbol": "ASL",
        "name": "argininosuccinate lyase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/asl"
      },
      {
        "slug": "ass1",
        "symbol": "ASS1",
        "name": "argininosuccinate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ass1"
      },
      {
        "slug": "ca5a",
        "symbol": "CA5A",
        "name": "carbonic anhydrase 5A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ca5a"
      },
      {
        "slug": "cps1",
        "symbol": "CPS1",
        "name": "carbamoyl-phosphate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cps1"
      },
      {
        "slug": "glud1",
        "symbol": "GLUD1",
        "name": "glutamate dehydrogenase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/glud1"
      },
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mccc1"
      },
      {
        "slug": "otc",
        "symbol": "OTC",
        "name": "ornithine transcarbamylase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/otc"
      },
      {
        "slug": "slc25a13",
        "symbol": "SLC25A13",
        "name": "solute carrier family 25 member 13",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/slc25a13"
      },
      {
        "slug": "slc25a15",
        "symbol": "SLC25A15",
        "name": "solute carrier family 25 member 15",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/slc25a15"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}