{
  "url": "https://dantelabs.com/sv/genes/pnpo",
  "gene": {
    "slug": "pnpo",
    "symbol": "PNPO",
    "name": "pyridoxamine 5'-phosphate oxidase",
    "hgnc": "HGNC:30260",
    "summary": null,
    "location": "17q21.32",
    "locusType": "gene with protein product",
    "aliases": [
      "PDXPO"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000108439",
    "entrezId": 55163,
    "omim": [
      "603287"
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    "uniprot": [
      "Q9NVS9"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 47941571,
      "end": 47949308,
      "strand": "+",
      "ensemblTranscript": "ENST00000642017.2",
      "refseqTranscript": "NM_018129.4",
      "ensemblProtein": "ENSP00000493302.2",
      "refseqProtein": "NP_060599.1",
      "exons": [
        {
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          "end": 47941813
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        {
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          "end": 47943430
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        {
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        {
          "start": 47946323,
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        {
          "start": 47946614,
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      ],
      "cds": {
        "start": 47941676,
        "end": 47946782
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 46018872,
      "end": 46025654,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 47445440,
      "end": 48445439,
      "genes": [
        {
          "symbol": "NPEPPS",
          "ensemblId": "ENSG00000141279",
          "biotype": "protein_coding",
          "start": 47522942,
          "end": 47624707,
          "strand": "+",
          "slug": "npepps"
        },
        {
          "symbol": "KPNB1",
          "ensemblId": "ENSG00000108424",
          "biotype": "protein_coding",
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          "end": 47685505,
          "strand": "+",
          "slug": "kpnb1"
        },
        {
          "symbol": "TBKBP1",
          "ensemblId": "ENSG00000198933",
          "biotype": "protein_coding",
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          "end": 47712063,
          "strand": "+",
          "slug": "tbkbp1"
        },
        {
          "symbol": "TBX21",
          "ensemblId": "ENSG00000073861",
          "biotype": "protein_coding",
          "start": 47733236,
          "end": 47746126,
          "strand": "+",
          "slug": "tbx21"
        },
        {
          "symbol": "OSBPL7",
          "ensemblId": "ENSG00000006025",
          "biotype": "protein_coding",
          "start": 47807363,
          "end": 47821890,
          "strand": "-",
          "slug": "osbpl7"
        },
        {
          "symbol": "MRPL10",
          "ensemblId": "ENSG00000159111",
          "biotype": "protein_coding",
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          "end": 47831545,
          "strand": "-",
          "slug": "mrpl10"
        },
        {
          "symbol": "LRRC46",
          "ensemblId": "ENSG00000141294",
          "biotype": "protein_coding",
          "start": 47831634,
          "end": 47837719,
          "strand": "+",
          "slug": "lrrc46"
        },
        {
          "symbol": "SCRN2",
          "ensemblId": "ENSG00000141295",
          "biotype": "protein_coding",
          "start": 47837683,
          "end": 47842125,
          "strand": "-",
          "slug": "scrn2"
        },
        {
          "symbol": "SP6",
          "ensemblId": "ENSG00000189120",
          "biotype": "protein_coding",
          "start": 47844908,
          "end": 47855874,
          "strand": "-",
          "slug": "sp6"
        },
        {
          "symbol": "SP2",
          "ensemblId": "ENSG00000167182",
          "biotype": "protein_coding",
          "start": 47896150,
          "end": 47928964,
          "strand": "+",
          "slug": "sp2"
        },
        {
          "symbol": "PRR15L",
          "ensemblId": "ENSG00000167183",
          "biotype": "protein_coding",
          "start": 47950851,
          "end": 47960483,
          "strand": "-",
          "slug": "prr15l"
        },
        {
          "symbol": "CDK5RAP3",
          "ensemblId": "ENSG00000108465",
          "biotype": "protein_coding",
          "start": 47967810,
          "end": 47981787,
          "strand": "+",
          "slug": "cdk5rap3"
        },
        {
          "symbol": "COPZ2",
          "ensemblId": "ENSG00000005243",
          "biotype": "protein_coding",
          "start": 48026142,
          "end": 48038030,
          "strand": "-",
          "slug": "copz2"
        },
        {
          "symbol": "NFE2L1",
          "ensemblId": "ENSG00000082641",
          "biotype": "protein_coding",
          "start": 48047889,
          "end": 48088647,
          "strand": "+",
          "slug": "nfe2l1"
        },
        {
          "symbol": "CBX1",
          "ensemblId": "ENSG00000108468",
          "biotype": "protein_coding",
          "start": 48070052,
          "end": 48107848,
          "strand": "-",
          "slug": "cbx1"
        },
        {
          "symbol": "SNX11",
          "ensemblId": "ENSG00000002919",
          "biotype": "protein_coding",
          "start": 48103357,
          "end": 48128226,
          "strand": "+",
          "slug": "snx11"
        },
        {
          "symbol": "SKAP1",
          "ensemblId": "ENSG00000141293",
          "biotype": "protein_coding",
          "start": 48133433,
          "end": 48430275,
          "strand": "-",
          "slug": "skap1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epilepsy-report",
        "name": "Epilepsi (fullständig panel)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsi",
            "genes": 171,
            "inheritance": null,
            "description": "En hjärnsjukdom som kännetecknas av episoder med onormalt ökad neuronal urladdning, vilket ger övergående episoder av sensoriska eller motoriska neurologiska störningar eller psykiska störningar. Dessa episoder kan, men behöver inte, vara förknippade med medvetslöshet eller krampanfall.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/epilepsy-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-arginine-concentration",
        "name": "Abnormal circulating arginine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-arginine-concentration"
      },
      {
        "slug": "abnormal-circulating-glycine-concentration",
        "name": "Abnormal circulating glycine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-glycine-concentration"
      },
      {
        "slug": "abnormal-circulating-histidine-concentration",
        "name": "Abnormal circulating histidine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-histidine-concentration"
      },
      {
        "slug": "abnormal-circulating-threonine-concentration",
        "name": "Abnormal circulating threonine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-threonine-concentration"
      },
      {
        "slug": "abnormal-circulating-tyrosine-concentration",
        "name": "Abnormal circulating tyrosine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-tyrosine-concentration"
      },
      {
        "slug": "abnormality-of-eye-movement",
        "name": "Abnormality of eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-eye-movement"
      },
      {
        "slug": "abnormality-of-the-amniotic-fluid",
        "name": "Abnormality of the amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-amniotic-fluid"
      },
      {
        "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": "decreased-csf-homovanillic-acid-concentration",
        "name": "Decreased CSF homovanillic acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-csf-homovanillic-acid-concentration"
      },
      {
        "slug": "eeg-with-burst-suppression",
        "name": "EEG with burst suppression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-burst-suppression"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "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": "high-pitched-cry",
        "name": "High-pitched cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-pitched-cry"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "low-apgar-score",
        "name": "Low APGAR score",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-apgar-score"
      },
      {
        "slug": "hypoargininemia",
        "name": "Low blood arginine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoargininemia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "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": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "pyridoxine-responsive-sideroblastic-anemia",
        "name": "Pyridoxine-responsive sideroblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyridoxine-responsive-sideroblastic-anemia"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "rotary-nystagmus",
        "name": "Rotary nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rotary-nystagmus"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aars1"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "name": "4-aminobutyrate aminotransferase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/abat"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "name": "actin like 6B",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/actl6b"
      },
      {
        "slug": "adam22",
        "symbol": "ADAM22",
        "name": "ADAM metallopeptidase domain 22",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/adam22"
      },
      {
        "slug": "aldh7a1",
        "symbol": "ALDH7A1",
        "name": "aldehyde dehydrogenase 7 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aldh7a1"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/alg13"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap3b2"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/arhgef9"
      },
      {
        "slug": "arv1",
        "symbol": "ARV1",
        "name": "ARV1 fatty acid homeostasis modulator",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/arv1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/arx"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp1a3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}