{
  "url": "https://dantelabs.com/no/genes/spr",
  "gene": {
    "slug": "spr",
    "symbol": "SPR",
    "name": "sepiapterin reductase",
    "hgnc": "HGNC:11257",
    "summary": null,
    "location": "2p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SDR38C1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000116096",
    "entrezId": 6697,
    "omim": [
      "182125"
    ],
    "uniprot": [
      "P35270"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 72887408,
      "end": 72892158,
      "strand": "+",
      "ensemblTranscript": "ENST00000234454.6",
      "refseqTranscript": "NM_003124.5",
      "ensemblProtein": "ENSP00000234454.5",
      "refseqProtein": "NP_003115.1",
      "exons": [
        {
          "start": 72887408,
          "end": 72887736
        },
        {
          "start": 72888314,
          "end": 72888604
        },
        {
          "start": 72891347,
          "end": 72892158
        }
      ],
      "cds": {
        "start": 72887433,
        "end": 72891537
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 73114489,
      "end": 73119287,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 72389783,
      "end": 73389782,
      "genes": [
        {
          "symbol": "EXOC6B",
          "ensemblId": "ENSG00000144036",
          "biotype": "protein_coding",
          "start": 72170079,
          "end": 72826055,
          "strand": "-",
          "slug": "exoc6b"
        },
        {
          "symbol": "EMX1",
          "ensemblId": "ENSG00000135638",
          "biotype": "protein_coding",
          "start": 72916184,
          "end": 72936071,
          "strand": "+",
          "slug": "emx1"
        },
        {
          "symbol": "SFXN5",
          "ensemblId": "ENSG00000144040",
          "biotype": "protein_coding",
          "start": 72939248,
          "end": 73075619,
          "strand": "-",
          "slug": "sfxn5"
        },
        {
          "symbol": "RAB11FIP5",
          "ensemblId": "ENSG00000135631",
          "biotype": "protein_coding",
          "start": 73073382,
          "end": 73156721,
          "strand": "-",
          "slug": "rab11fip5"
        },
        {
          "symbol": "NOTO",
          "ensemblId": "ENSG00000214513",
          "biotype": "protein_coding",
          "start": 73202570,
          "end": 73212513,
          "strand": "+",
          "slug": "noto"
        },
        {
          "symbol": "SMYD5",
          "ensemblId": "ENSG00000135632",
          "biotype": "protein_coding",
          "start": 73214222,
          "end": 73227229,
          "strand": "+",
          "slug": "smyd5"
        },
        {
          "symbol": "PRADC1",
          "ensemblId": "ENSG00000135617",
          "biotype": "protein_coding",
          "start": 73228008,
          "end": 73233262,
          "strand": "-",
          "slug": "pradc1"
        },
        {
          "symbol": "CCT7",
          "ensemblId": "ENSG00000135624",
          "biotype": "protein_coding",
          "start": 73233420,
          "end": 73253282,
          "strand": "+",
          "slug": "cct7"
        },
        {
          "symbol": "FBXO41",
          "ensemblId": "ENSG00000163013",
          "biotype": "protein_coding",
          "start": 73254682,
          "end": 73284478,
          "strand": "-",
          "slug": "fbxo41"
        },
        {
          "symbol": "EGR4",
          "ensemblId": "ENSG00000135625",
          "biotype": "protein_coding",
          "start": 73290927,
          "end": 73293721,
          "strand": "-",
          "slug": "egr4"
        },
        {
          "symbol": "ALMS1",
          "ensemblId": "ENSG00000116127",
          "biotype": "protein_coding",
          "start": 73385758,
          "end": 73625166,
          "strand": "+",
          "slug": "alms1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "bh4-deficiency-and-neurotransmitter-disorders",
        "name": "BH4-mangel og monoaminnevrotransmitterforstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0012994",
            "name": "Sepiapterinreduktase-mangel",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaket av varianter i SPR, som reduserer dopamin og serotonin og fører til bevegelsesproblemer, svingende svakhet og utviklingsforsinkelse, uten økt fenylalanin.",
            "management": "Kunnskap om dette gjør det mulig å behandle med L-dopa og 5-hydroksytryptofan, som kan bedre symptomene betydelig.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0016543",
            "name": "Hyperfenylalaninemi på grunn av BH4-mangel",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaket av varianter i PTS, QDPR, PCBD1 eller GCH1, som øker fenylalanin og reduserer dopamin og serotonin, noe som fører til bevegelsesproblemer, anfall og utviklingsforsinkelse.",
            "management": "Kunnskap om dette gjør det mulig å behandle med BH4, nevrotransmitterforløpere (L-dopa, 5-hydroksytryptofan) og folinsyre ved behov.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/bh4-deficiency-and-neurotransmitter-disorders"
      },
      {
        "slug": "dystonia-myotonia-paroxysmal-dyskinesia",
        "name": "Dystonі, myotoni, paroksysmal dyskinesi",
        "diseases": [
          {
            "mondoId": "MONDO:0044807",
            "name": "Arvelig dystoni",
            "genes": 34,
            "inheritance": null,
            "description": "Samlebetegnelse for arvelige dystonier, herunder DYT-TOR1A generalisert dystoni med tidlig debut, DYT-THAP1, myoklonus-dystoni (SGCE) og KMT2B-relatert dystoni.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/dystonia-myotonia-paroxysmal-dyskinesia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-nose",
        "name": "Abnormality of the nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nose"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "cerebral-palsy",
        "name": "Cerebral palsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-palsy"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "hypomimic-face",
        "name": "Decreased facial expressions",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypomimic-face"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "drowsiness",
        "name": "Drowsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drowsiness"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "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": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "oculogyric-crisis",
        "name": "Oculogyric crisis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oculogyric-crisis"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "reduced-sepiapterin-reductase-activity-in-cultured-fibroblasts",
        "name": "Reduced sepiapterin reductase activity in cultured fibroblasts",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-sepiapterin-reductase-activity-in-cultured-fibroblasts"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "temperature-instability",
        "name": "Temperature instability",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/temperature-instability"
      },
      {
        "slug": "transient-hyperphenylalaninemia",
        "name": "Transient hyperphenylalaninemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/transient-hyperphenylalaninemia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      }
    ],
    "related": [
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "name": "GTP cyclohydrolase 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/gch1"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/actb"
      },
      {
        "slug": "ano3",
        "symbol": "ANO3",
        "name": "anoctamin 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ano3"
      },
      {
        "slug": "arfgef3",
        "symbol": "ARFGEF3",
        "name": "ARFGEF family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/arfgef3"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/atp1a3"
      },
      {
        "slug": "bcap31",
        "symbol": "BCAP31",
        "name": "B cell receptor associated protein 31",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/bcap31"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/col6a3"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dcaf17"
      },
      {
        "slug": "gnal",
        "symbol": "GNAL",
        "name": "G protein subunit alpha L",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gnal"
      },
      {
        "slug": "hpca",
        "symbol": "HPCA",
        "name": "hippocalcin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/hpca"
      },
      {
        "slug": "kcnj10",
        "symbol": "KCNJ10",
        "name": "potassium inwardly rectifying channel subfamily J member 10",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/kcnj10"
      },
      {
        "slug": "kctd17",
        "symbol": "KCTD17",
        "name": "potassium channel tetramerization domain containing 17",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/kctd17"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}