{
  "url": "https://dantelabs.com/sv/genes/cyp11b2",
  "gene": {
    "slug": "cyp11b2",
    "symbol": "CYP11B2",
    "name": "cytochrome P450 family 11 subfamily B member 2",
    "hgnc": "HGNC:2592",
    "summary": null,
    "location": "8q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CYP11BL",
      "CPN2",
      "P-450C18",
      "P450aldo",
      "ALDOS"
    ],
    "previousSymbols": [
      "CYP11B"
    ],
    "ensemblId": "ENSG00000179142",
    "entrezId": 1585,
    "omim": [
      "124080"
    ],
    "uniprot": [
      "P19099"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 142910559,
      "end": 142917843,
      "strand": "-",
      "ensemblTranscript": "ENST00000323110.2",
      "refseqTranscript": "NM_000498.3",
      "ensemblProtein": "ENSP00000325822.2",
      "refseqProtein": "NP_000489.3",
      "exons": [
        {
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        },
        {
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        },
        {
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        }
      ],
      "cds": {
        "start": 142911980,
        "end": 142917840
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 143991975,
      "end": 143999259,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 142414201,
      "end": 143414200,
      "genes": [
        {
          "symbol": "ADGRB1",
          "ensemblId": "ENSG00000181790",
          "biotype": "protein_coding",
          "start": 142449430,
          "end": 142545009,
          "strand": "+",
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        },
        {
          "symbol": "ARC",
          "ensemblId": "ENSG00000198576",
          "biotype": "protein_coding",
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          "end": 142614479,
          "strand": "-",
          "slug": "arc"
        },
        {
          "symbol": "JRK",
          "ensemblId": "ENSG00000234616",
          "biotype": "protein_coding",
          "start": 142657460,
          "end": 142681968,
          "strand": "-",
          "slug": "jrk"
        },
        {
          "symbol": "PSCA",
          "ensemblId": "ENSG00000167653",
          "biotype": "protein_coding",
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          "end": 142682725,
          "strand": "+",
          "slug": "psca"
        },
        {
          "symbol": "LY6K",
          "ensemblId": "ENSG00000160886",
          "biotype": "protein_coding",
          "start": 142699988,
          "end": 142705190,
          "strand": "+",
          "slug": "ly6k"
        },
        {
          "symbol": "THEM6",
          "ensemblId": "ENSG00000130193",
          "biotype": "protein_coding",
          "start": 142727176,
          "end": 142736938,
          "strand": "+",
          "slug": "them6"
        },
        {
          "symbol": "SLURP1",
          "ensemblId": "ENSG00000126233",
          "biotype": "protein_coding",
          "start": 142740941,
          "end": 142742414,
          "strand": "-",
          "slug": "slurp1"
        },
        {
          "symbol": "LYPD2",
          "ensemblId": "ENSG00000197353",
          "biotype": "protein_coding",
          "start": 142750150,
          "end": 142753006,
          "strand": "-",
          "slug": "lypd2"
        },
        {
          "symbol": "SLURP2",
          "ensemblId": "ENSG00000283992",
          "biotype": "protein_coding",
          "start": 142764334,
          "end": 142769828,
          "strand": "-",
          "slug": "slurp2"
        },
        {
          "symbol": "LYNX1-SLURP2",
          "ensemblId": "ENSG00000284505",
          "biotype": "protein_coding",
          "start": 142764334,
          "end": 142778224,
          "strand": "-",
          "slug": "lynx1-slurp2"
        },
        {
          "symbol": "LYNX1",
          "ensemblId": "ENSG00000180155",
          "biotype": "protein_coding",
          "start": 142771197,
          "end": 142777889,
          "strand": "-",
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        },
        {
          "symbol": "LY6D",
          "ensemblId": "ENSG00000167656",
          "biotype": "protein_coding",
          "start": 142784881,
          "end": 142786546,
          "strand": "-",
          "slug": "ly6d"
        },
        {
          "symbol": "GML",
          "ensemblId": "ENSG00000104499",
          "biotype": "protein_coding",
          "start": 142834171,
          "end": 142916506,
          "strand": "+",
          "slug": "gml"
        },
        {
          "symbol": "CYP11B1",
          "ensemblId": "ENSG00000160882",
          "biotype": "protein_coding",
          "start": 142871305,
          "end": 142880000,
          "strand": "-",
          "slug": "cyp11b1"
        },
        {
          "symbol": "LY6E",
          "ensemblId": "ENSG00000160932",
          "biotype": "protein_coding",
          "start": 143012722,
          "end": 143023835,
          "strand": "+",
          "slug": "ly6e"
        },
        {
          "symbol": "LY6S",
          "ensemblId": "ENSG00000291309",
          "biotype": "protein_coding",
          "start": 143040839,
          "end": 143048357,
          "strand": "-",
          "slug": "ly6s"
        },
        {
          "symbol": "LY6L",
          "ensemblId": "ENSG00000261667",
          "biotype": "protein_coding",
          "start": 143080299,
          "end": 143083486,
          "strand": "+",
          "slug": "ly6l"
        },
        {
          "symbol": "LY6H",
          "ensemblId": "ENSG00000176956",
          "biotype": "protein_coding",
          "start": 143157914,
          "end": 143160711,
          "strand": "-",
          "slug": "ly6h"
        },
        {
          "symbol": "GPIHBP1",
          "ensemblId": "ENSG00000277494",
          "biotype": "protein_coding",
          "start": 143213019,
          "end": 143217172,
          "strand": "+",
          "slug": "gpihbp1"
        },
        {
          "symbol": "ZFP41",
          "ensemblId": "ENSG00000181638",
          "biotype": "protein_coding",
          "start": 143245996,
          "end": 143262705,
          "strand": "+",
          "slug": "zfp41"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000264668",
          "biotype": "protein_coding",
          "start": 143247110,
          "end": 143276403,
          "strand": "+"
        },
        {
          "symbol": "GLI4",
          "ensemblId": "ENSG00000250571",
          "biotype": "protein_coding",
          "start": 143263193,
          "end": 143276937,
          "strand": "+",
          "slug": "gli4"
        },
        {
          "symbol": "ZNF696",
          "ensemblId": "ENSG00000185730",
          "biotype": "protein_coding",
          "start": 143289676,
          "end": 143299952,
          "strand": "+",
          "slug": "znf696"
        },
        {
          "symbol": "TOP1MT",
          "ensemblId": "ENSG00000184428",
          "biotype": "protein_coding",
          "start": 143301453,
          "end": 143359979,
          "strand": "-",
          "slug": "top1mt"
        },
        {
          "symbol": "RHPN1",
          "ensemblId": "ENSG00000158106",
          "biotype": "protein_coding",
          "start": 143368810,
          "end": 143384221,
          "strand": "+",
          "slug": "rhpn1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "monogenic-hypertension-mineralocorticoid-disorders",
        "name": "Monogen hypertoni och mineralokortikoidrubbningar",
        "diseases": [
          {
            "mondoId": "MONDO:0018541",
            "name": "Aldosteronsyntasbrist",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Ett ärftligt fel i sista steget av aldosteronproduktionen, vanligtvis orsakat av förändringar i CYP11B2, vilket leder till saltförlust och högt kalium under spädbarnstiden.",
            "management": "Kunskap om tillståndet stöder behandling med fludrokortison och saltersättning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/monogenic-hypertension-mineralocorticoid-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-corticosterone-level",
        "name": "Abnormal circulating corticosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-corticosterone-level"
      },
      {
        "slug": "abnormal-external-genitalia-morphology",
        "name": "Abnormal external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-external-genitalia-morphology"
      },
      {
        "slug": "intracranial-hemorrhage",
        "name": "Bleeding within the skull",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intracranial-hemorrhage"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "decreased-circulating-renin-concentration",
        "name": "Decreased circulating renin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-renin-concentration"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "elevated-aldosterone-renin-ratio",
        "name": "Elevated aldosterone:renin ratio",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-aldosterone-renin-ratio"
      },
      {
        "slug": "increased-circulating-renin-concentration",
        "name": "Elevated blood renin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-renin-concentration"
      },
      {
        "slug": "increased-circulating-aldosterone-concentration",
        "name": "Elevated plasma aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "elevated-serum-11-deoxycortisol",
        "name": "Elevated serum 11-deoxycortisol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-serum-11-deoxycortisol"
      },
      {
        "slug": "adrenal-hyperplasia",
        "name": "Enlarged adrenal glands",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenal-hyperplasia"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-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": "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": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hypertension-resistant-to-conventional-therapy",
        "name": "Hypertension resistant to conventional therapy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension-resistant-to-conventional-therapy"
      },
      {
        "slug": "increased-circulating-18-hydroxycortisone-level",
        "name": "Increased circulating 18-hydroxycortisone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-18-hydroxycortisone-level"
      },
      {
        "slug": "increased-circulating-corticosterone-level",
        "name": "Increased circulating corticosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-corticosterone-level"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "left-ventricular-hypertrophy",
        "name": "Left ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy"
      },
      {
        "slug": "renal-salt-wasting",
        "name": "Loss of salt in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-salt-wasting"
      },
      {
        "slug": "decreased-circulating-aldosterone-concentration",
        "name": "Low blood aldosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-aldosterone-concentration"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "renal-sodium-wasting",
        "name": "Renal sodium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-sodium-wasting"
      },
      {
        "slug": "tinnitus",
        "name": "Ringing in ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tinnitus"
      },
      {
        "slug": "secretory-adrenocortical-adenoma",
        "name": "Secretory adrenocortical adenoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/secretory-adrenocortical-adenoma"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}