{
  "url": "https://dantelabs.com/fi/genes/cyp2r1",
  "gene": {
    "slug": "cyp2r1",
    "symbol": "CYP2R1",
    "name": "cytochrome P450 family 2 subfamily R member 1",
    "hgnc": "HGNC:20580",
    "summary": null,
    "location": "11p15.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000186104",
    "entrezId": 120227,
    "omim": [
      "608713"
    ],
    "uniprot": [
      "Q6VVX0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 14877440,
      "end": 14892231,
      "strand": "-",
      "ensemblTranscript": "ENST00000334636.10",
      "refseqTranscript": "NM_024514.5",
      "ensemblProtein": "ENSP00000334592.5",
      "refseqProtein": "NP_078790.2",
      "exons": [
        {
          "start": 14877440,
          "end": 14878297
        },
        {
          "start": 14879114,
          "end": 14879443
        },
        {
          "start": 14880136,
          "end": 14880768
        },
        {
          "start": 14885776,
          "end": 14885917
        },
        {
          "start": 14891981,
          "end": 14892231
        }
      ],
      "cds": {
        "start": 14878122,
        "end": 14892205
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 14899553,
      "end": 14913798,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 14384836,
      "end": 15384835,
      "genes": [
        {
          "symbol": "COPB1",
          "ensemblId": "ENSG00000129083",
          "biotype": "protein_coding",
          "start": 14443357,
          "end": 14500027,
          "strand": "-",
          "slug": "copb1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000256206",
          "biotype": "protein_coding",
          "start": 14493783,
          "end": 14520344,
          "strand": "-"
        },
        {
          "symbol": "PSMA1",
          "ensemblId": "ENSG00000129084",
          "biotype": "protein_coding",
          "start": 14504211,
          "end": 14643635,
          "strand": "-",
          "slug": "psma1"
        },
        {
          "symbol": "PDE3B",
          "ensemblId": "ENSG00000152270",
          "biotype": "protein_coding",
          "start": 14643663,
          "end": 14874657,
          "strand": "+",
          "slug": "pde3b"
        },
        {
          "symbol": "CALCB",
          "ensemblId": "ENSG00000175868",
          "biotype": "protein_coding",
          "start": 14904997,
          "end": 15083701,
          "strand": "+",
          "slug": "calcb"
        },
        {
          "symbol": "CALCA",
          "ensemblId": "ENSG00000110680",
          "biotype": "protein_coding",
          "start": 14966622,
          "end": 14972357,
          "strand": "-",
          "slug": "calca"
        },
        {
          "symbol": "INSC",
          "ensemblId": "ENSG00000188487",
          "biotype": "protein_coding",
          "start": 15112424,
          "end": 15247208,
          "strand": "+",
          "slug": "insc"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-rickets",
        "name": "Perinnöllinen riisitauti (hypofosfatemia ja D-vitamiinista riippuva)",
        "diseases": [
          {
            "mondoId": "MONDO:0024299",
            "name": "D-vitamiinista riippuva riisitauti",
            "genes": 3,
            "inheritance": null,
            "description": "Perinnölliset viat D-vitamiinin aktivoitumisessa (CYP27B1, CYP2R1) tai D-vitamiinireseptorissa (VDR), jotka aiheuttavat riisitautia varhaislapsuudessa riittävästä D-vitamiinin saannista huolimatta.",
            "management": "Useimmat tyypit reagoivat hyvin kalsitrioliin, suuriannoksiseen D-vitamiiniin tai suuriannoksiseen kalsiumiin tyypistä riippuen.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/hereditary-rickets"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "fibular-bowing",
        "name": "Bowed calf bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/fibular-bowing"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "tibial-bowing",
        "name": "Bowed shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tibial-bowing"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "bulging-epiphyses",
        "name": "Bulging end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bulging-epiphyses"
      },
      {
        "slug": "bulging-of-the-costochondral-junction",
        "name": "Bulging of the costochondral junction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/bulging-of-the-costochondral-junction"
      },
      {
        "slug": "decreased-circulating-calcifediol-concentration",
        "name": "Decreased circulating calcifediol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-calcifediol-concentration"
      },
      {
        "slug": "decreased-circulating-calcitriol-concentration",
        "name": "Decreased circulating calcitriol concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-calcitriol-concentration"
      },
      {
        "slug": "deformed-rib-cage",
        "name": "Deformed rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/deformed-rib-cage"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "delayed-epiphyseal-ossification",
        "name": "Delayed maturation of end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification"
      },
      {
        "slug": "difficulty-standing",
        "name": "Difficulty in standing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/difficulty-standing"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-alkaline-phosphatase-of-bone-origin",
        "name": "Elevated alkaline phosphatase of bone origin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-alkaline-phosphatase-of-bone-origin"
      },
      {
        "slug": "elevated-circulating-parathyroid-hormone-level",
        "name": "Elevated circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "enlargement-of-the-ankles",
        "name": "Enlargement of the ankles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlargement-of-the-ankles"
      },
      {
        "slug": "enlargement-of-the-costochondral-junction",
        "name": "Enlargement of the costochondral junction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlargement-of-the-costochondral-junction"
      },
      {
        "slug": "enlargement-of-the-wrists",
        "name": "Enlargement of the wrists",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlargement-of-the-wrists"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "flat-occiput",
        "name": "Flat back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flat-occiput"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "generalized-aminoaciduria",
        "name": "Generalized aminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-aminoaciduria"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hypochromic-anemia",
        "name": "Hypochromic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypochromic-anemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "tetany",
        "name": "Intermittent involuntary muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tetany"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "irregular-rachitic-like-metaphyses",
        "name": "Irregular, rachitic-like metaphyses",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/irregular-rachitic-like-metaphyses"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "wide-cranial-sutures",
        "name": "Large cranial suture",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-cranial-sutures"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypophosphatemia",
        "name": "Low blood phosphate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypophosphatemia"
      },
      {
        "slug": "hypocalcemic-seizures",
        "name": "Low calcium seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypocalcemic-seizures"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "rachitic-rosary",
        "name": "Rachitic rosary",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rachitic-rosary"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "secondary-hyperparathyroidism",
        "name": "Secondary hyperparathyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/secondary-hyperparathyroidism"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "sparse-bone-trabeculae",
        "name": "Sparse bone trabeculae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-bone-trabeculae"
      },
      {
        "slug": "subperiosteal-bone-resorption",
        "name": "Subperiosteal bone resorption",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subperiosteal-bone-resorption"
      },
      {
        "slug": "thin-bony-cortex",
        "name": "Thin bony cortex",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thin-bony-cortex"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "rickets",
        "name": "Weak and soft bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rickets"
      },
      {
        "slug": "widely-patent-fontanelles-and-sutures",
        "name": "Widely patent fontanelles and sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/widely-patent-fontanelles-and-sutures"
      }
    ],
    "related": [
      {
        "slug": "cyp27b1",
        "symbol": "CYP27B1",
        "name": "cytochrome P450 family 27 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cyp27b1"
      },
      {
        "slug": "vdr",
        "symbol": "VDR",
        "name": "vitamin D receptor",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/vdr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}