{
  "url": "https://dantelabs.com/no/genes/rpia",
  "gene": {
    "slug": "rpia",
    "symbol": "RPIA",
    "name": "ribose 5-phosphate isomerase A",
    "hgnc": "HGNC:10297",
    "summary": null,
    "location": "2p11.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000153574",
    "entrezId": 22934,
    "omim": [
      "180430"
    ],
    "uniprot": [
      "P49247"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 88691673,
      "end": 88750929,
      "strand": "+",
      "ensemblTranscript": "ENST00000283646.5",
      "refseqTranscript": "NM_144563.3",
      "ensemblProtein": "ENSP00000283646.3",
      "refseqProtein": "NP_653164.2",
      "exons": [
        {
          "start": 88691673,
          "end": 88691983
        },
        {
          "start": 88698484,
          "end": 88698544
        },
        {
          "start": 88700009,
          "end": 88700064
        },
        {
          "start": 88729278,
          "end": 88729337
        },
        {
          "start": 88734552,
          "end": 88734616
        },
        {
          "start": 88735669,
          "end": 88735737
        },
        {
          "start": 88736535,
          "end": 88736676
        },
        {
          "start": 88737977,
          "end": 88738076
        },
        {
          "start": 88749981,
          "end": 88750929
        }
      ],
      "cds": {
        "start": 88691699,
        "end": 88750078
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 88991162,
      "end": 89050452,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 88221301,
      "end": 89221300,
      "genes": [
        {
          "symbol": "FOXI3",
          "ensemblId": "ENSG00000214336",
          "biotype": "protein_coding",
          "start": 88444826,
          "end": 88452693,
          "strand": "-",
          "slug": "foxi3"
        },
        {
          "symbol": "SPMIP9",
          "ensemblId": "ENSG00000172073",
          "biotype": "protein_coding",
          "start": 88524619,
          "end": 88529591,
          "strand": "+",
          "slug": "spmip9"
        },
        {
          "symbol": "EIF2AK3",
          "ensemblId": "ENSG00000172071",
          "biotype": "protein_coding",
          "start": 88556741,
          "end": 88691518,
          "strand": "-",
          "slug": "eif2ak3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Arvelige nevrodegenerative sykdommer",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "KIF5A-relatert nevrodegenerativ sykdom",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Forårsaket av endringer i én kopi av KIF5A, som koder for et motorprotein med en halevedel som binder last. Ulike typer endringer fører til ulike tilstander: hereditær spastisk paraplegi type 10, en aksonal form av Charcot-Marie-Tooths sykdom og amyotrofisk lateralsklerose (ALS).",
            "management": "Behandlingen er symptomatisk og avhenger av sykdomsbildet, og omfatter fysioterapi, legemidler mot spastisitet og tverrfaglig ALS-oppfølging. Hvert barn av en berørt person har 1 av 2 sjanse for å arve endringen; genetisk veiledning hjelper familier å forstå dette.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "leukodystrophy",
        "name": "Andre arvelige leukodystrofier",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrofi (andre og uspesifiserte typer)",
            "genes": 80,
            "inheritance": null,
            "description": "Arvelige tilstander som skader eller hindrer normal dannelse av myelin, den hvite substansen i hjernen og ryggmargen. De ulike typene arves autosomalt recessivt, autosomalt dominant eller X-bundet, avhengig av genet som er involvert.",
            "management": "Kjennskap til den spesifikke genetiske årsaken kan avslutte en diagnostisk leting, veilede støttende behandling og oppfølging, vise om en spesifikk behandling finnes, og gjøre det mulig å teste slektninger.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-csf-erythritol-concentration",
        "name": "Decreased CSF erythritol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-csf-erythritol-concentration"
      },
      {
        "slug": "decreased-level-of-erythritol-in-urine",
        "name": "Decreased level of erythritol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-level-of-erythritol-in-urine"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "elevated-brain-polyol-compounds-by-mrs",
        "name": "Elevated brain polyol compounds by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-brain-polyol-compounds-by-mrs"
      },
      {
        "slug": "elevated-circulating-d-threitol-concentration",
        "name": "Elevated circulating D-threitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-d-threitol-concentration"
      },
      {
        "slug": "elevated-circulating-ribitol-concentration",
        "name": "Elevated circulating ribitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-ribitol-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "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": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "increased-csf-d-threitol-concentration",
        "name": "Increased CSF D-threitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-d-threitol-concentration"
      },
      {
        "slug": "increased-csf-ribitol-concentration",
        "name": "Increased CSF ribitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-ribitol-concentration"
      },
      {
        "slug": "increased-csf-ribose-concentration",
        "name": "Increased CSF ribose concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-ribose-concentration"
      },
      {
        "slug": "increased-csf-xylitol-concentration",
        "name": "Increased CSF xylitol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/increased-csf-xylitol-concentration"
      },
      {
        "slug": "increased-level-of-d-threitol-in-urine",
        "name": "Increased level of D-threitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-d-threitol-in-urine"
      },
      {
        "slug": "increased-level-of-ribitol-in-urine",
        "name": "Increased level of ribitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-ribitol-in-urine"
      },
      {
        "slug": "increased-level-of-ribose-in-urine",
        "name": "Increased level of ribose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-ribose-in-urine"
      },
      {
        "slug": "increased-level-of-xylitol-in-urine",
        "name": "Increased level of xylitol in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-xylitol-in-urine"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polyneuropathy"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/aspa"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/atp11a"
      },
      {
        "slug": "clcn2",
        "symbol": "CLCN2",
        "name": "chloride voltage-gated channel 2",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/clcn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}