{
  "url": "https://dantelabs.com/no/genes/glul",
  "gene": {
    "slug": "glul",
    "symbol": "GLUL",
    "name": "glutamate-ammonia ligase",
    "hgnc": "HGNC:4341",
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    "location": "1q25.3",
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    "aliases": [],
    "previousSymbols": [
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    "uniprot": [
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      "release": "v1.5",
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      "end": 182391790,
      "strand": "-",
      "ensemblTranscript": "ENST00000331872.11",
      "refseqTranscript": "NM_001033044.4",
      "ensemblProtein": "ENSP00000356537.6",
      "refseqProtein": "NP_001028216.1",
      "exons": [
        {
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    },
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      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
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      "end": 182361341,
      "strand": "-"
    },
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      "end": 182884943,
      "genes": [
        {
          "symbol": "ZNF648",
          "ensemblId": "ENSG00000179930",
          "biotype": "protein_coding",
          "start": 182054570,
          "end": 182061712,
          "strand": "-",
          "slug": "znf648"
        },
        {
          "symbol": "TEDDM1",
          "ensemblId": "ENSG00000203730",
          "biotype": "protein_coding",
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          "end": 182400667,
          "strand": "-",
          "slug": "teddm1"
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        {
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          "end": 182560599,
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          "slug": "rgsl1"
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        {
          "symbol": "RNASEL",
          "ensemblId": "ENSG00000135828",
          "biotype": "protein_coding",
          "start": 182563015,
          "end": 182589272,
          "strand": "-",
          "slug": "rnasel"
        },
        {
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          "ensemblId": "ENSG00000143333",
          "biotype": "protein_coding",
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          "end": 182604394,
          "strand": "-",
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        {
          "symbol": "RGS8",
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          "end": 182684587,
          "strand": "-",
          "slug": "rgs8"
        },
        {
          "symbol": "NPL",
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          "biotype": "protein_coding",
          "start": 182789263,
          "end": 182831017,
          "strand": "+",
          "slug": "npl"
        },
        {
          "symbol": "DHX9",
          "ensemblId": "ENSG00000135829",
          "biotype": "protein_coding",
          "start": 182839302,
          "end": 182888120,
          "strand": "+",
          "slug": "dhx9"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsi (fullstendig panel)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsi",
            "genes": 171,
            "inheritance": null,
            "description": "En hjernesykdom preget av episoder med unormalt økt nevronal aktivitet som gir forbigående sanse- eller bevegelsesforstyrrelser eller psykiske forstyrrelser. Disse episodene kan være forbundet med bevissthetstap eller kramper, eller ikke.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
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            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
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        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
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        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "hypoglutaminemia",
        "name": "Decreased blood glutamine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglutaminemia"
      },
      {
        "slug": "decreased-csf-glutamine-concentration",
        "name": "Decreased CSF glutamine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-csf-glutamine-concentration"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "dilation-of-virchow-robin-spaces",
        "name": "Dilation of Virchow-Robin spaces",
        "systems": [
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          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilation-of-virchow-robin-spaces"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "focal-clonic-seizure",
        "name": "Focal clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-clonic-seizure"
      },
      {
        "slug": "focal-myoclonic-seizure",
        "name": "Focal myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-myoclonic-seizure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-myoclonic-atonic-seizure",
        "name": "Generalized myoclonic-atonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-atonic-seizure"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "myoclonic-seizure",
        "name": "Myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "subependymal-cysts",
        "name": "Subependymal cysts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subependymal-cysts"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}