{
  "url": "https://dantelabs.com/genes/qdpr",
  "gene": {
    "slug": "qdpr",
    "symbol": "QDPR",
    "name": "quinoid dihydropteridine reductase",
    "hgnc": "HGNC:9752",
    "summary": null,
    "location": "4p15.32",
    "locusType": "gene with protein product",
    "aliases": [
      "DHPR",
      "PKU2",
      "SDR33C1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000151552",
    "entrezId": 5860,
    "omim": [
      "612676"
    ],
    "uniprot": [
      "P09417"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 17486395,
      "end": 17512090,
      "strand": "-",
      "ensemblTranscript": "ENST00000281243.10",
      "refseqTranscript": "NM_000320.3",
      "ensemblProtein": "ENSP00000281243.5",
      "refseqProtein": "NP_000311.2",
      "exons": [
        {
          "start": 17486395,
          "end": 17487236
        },
        {
          "start": 17490662,
          "end": 17490745
        },
        {
          "start": 17492232,
          "end": 17492340
        },
        {
          "start": 17501719,
          "end": 17501859
        },
        {
          "start": 17504379,
          "end": 17504475
        },
        {
          "start": 17509271,
          "end": 17509363
        },
        {
          "start": 17511950,
          "end": 17512090
        }
      ],
      "cds": {
        "start": 17487131,
        "end": 17512054
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 17461884,
      "end": 17513857,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 16999243,
      "end": 17999242,
      "genes": [
        {
          "symbol": "CLRN2",
          "ensemblId": "ENSG00000249581",
          "biotype": "protein_coding",
          "start": 17515165,
          "end": 17527104,
          "strand": "+",
          "slug": "clrn2"
        },
        {
          "symbol": "LAP3",
          "ensemblId": "ENSG00000002549",
          "biotype": "protein_coding",
          "start": 17577167,
          "end": 17608089,
          "strand": "+",
          "slug": "lap3"
        },
        {
          "symbol": "MED28",
          "ensemblId": "ENSG00000118579",
          "biotype": "protein_coding",
          "start": 17614586,
          "end": 17654143,
          "strand": "+",
          "slug": "med28"
        },
        {
          "symbol": "FAM184B",
          "ensemblId": "ENSG00000047662",
          "biotype": "protein_coding",
          "start": 17629306,
          "end": 17781627,
          "strand": "-",
          "slug": "fam184b"
        },
        {
          "symbol": "DCAF16",
          "ensemblId": "ENSG00000163257",
          "biotype": "protein_coding",
          "start": 17793446,
          "end": 17810758,
          "strand": "-",
          "slug": "dcaf16"
        },
        {
          "symbol": "NCAPG",
          "ensemblId": "ENSG00000109805",
          "biotype": "protein_coding",
          "start": 17810844,
          "end": 17848064,
          "strand": "+",
          "slug": "ncapg"
        },
        {
          "symbol": "LCORL",
          "ensemblId": "ENSG00000178177",
          "biotype": "protein_coding",
          "start": 17841187,
          "end": 18021993,
          "strand": "-",
          "slug": "lcorl"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "bh4-deficiency-and-neurotransmitter-disorders",
        "name": "BH4 Deficiency & Monoamine Neurotransmitter Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0016543",
            "name": "Hyperphenylalaninemia due to BH4 Deficiency",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in PTS, QDPR, PCBD1 or GCH1, which raise phenylalanine and reduce dopamine and serotonin, leading to movement problems, seizures and developmental delay.",
            "management": "Knowing allows treatment with BH4, neurotransmitter precursors (L-dopa, 5-hydroxytryptophan) and folinic acid where needed.",
            "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/conditions/bh4-deficiency-and-neurotransmitter-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "diminished-tissue-dihydropteridine-reductase-activity",
        "name": "Diminished tissue dihydropteridine reductase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diminished-tissue-dihydropteridine-reductase-activity"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "excessive-salivation",
        "name": "Excessive salivation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/excessive-salivation"
      },
      {
        "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": "hyperphenylalaninemia",
        "name": "Hyperphenylalaninemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperphenylalaninemia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "progressive-neurologic-deterioration",
        "name": "Worsening neurological symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration"
      }
    ],
    "related": [
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "name": "GTP cyclohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/gch1"
      },
      {
        "slug": "pcbd1",
        "symbol": "PCBD1",
        "name": "pterin-4 alpha-carbinolamine dehydratase 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/pcbd1"
      },
      {
        "slug": "pts",
        "symbol": "PTS",
        "name": "6-pyruvoyltetrahydropterin synthase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/pts"
      },
      {
        "slug": "spr",
        "symbol": "SPR",
        "name": "sepiapterin reductase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/spr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}