{
  "url": "https://dantelabs.com/hu/genes/scnn1b",
  "gene": {
    "slug": "scnn1b",
    "symbol": "SCNN1B",
    "name": "sodium channel epithelial 1 subunit beta",
    "hgnc": "HGNC:10600",
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    "location": "16p12.2",
    "locusType": "gene with protein product",
    "aliases": [
      "ENaCbeta"
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    "previousSymbols": [],
    "ensemblId": "ENSG00000168447",
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    "omim": [
      "600760"
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    "uniprot": [
      "P51168"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 23302302,
      "end": 23381294,
      "strand": "+",
      "ensemblTranscript": "ENST00000343070.7",
      "refseqTranscript": "NM_000336.3",
      "ensemblProtein": "ENSP00000345751.2",
      "refseqProtein": "NP_000327.2",
      "exons": [
        {
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      ],
      "cds": {
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        "end": 23380801
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
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      "end": 23392620,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "HS3ST2",
          "ensemblId": "ENSG00000122254",
          "biotype": "protein_coding",
          "start": 22814162,
          "end": 23012184,
          "strand": "+",
          "slug": "hs3st2"
        },
        {
          "symbol": "USP31",
          "ensemblId": "ENSG00000103404",
          "biotype": "protein_coding",
          "start": 23061406,
          "end": 23149466,
          "strand": "-",
          "slug": "usp31"
        },
        {
          "symbol": "SCNN1G",
          "ensemblId": "ENSG00000166828",
          "biotype": "protein_coding",
          "start": 23182677,
          "end": 23216883,
          "strand": "+",
          "slug": "scnn1g"
        },
        {
          "symbol": "COG7",
          "ensemblId": "ENSG00000168434",
          "biotype": "protein_coding",
          "start": 23388493,
          "end": 23453210,
          "strand": "-",
          "slug": "cog7"
        },
        {
          "symbol": "GGA2",
          "ensemblId": "ENSG00000103365",
          "biotype": "protein_coding",
          "start": 23462213,
          "end": 23521995,
          "strand": "-",
          "slug": "gga2"
        },
        {
          "symbol": "EARS2",
          "ensemblId": "ENSG00000103356",
          "biotype": "protein_coding",
          "start": 23520754,
          "end": 23557731,
          "strand": "-",
          "slug": "ears2"
        },
        {
          "symbol": "UBFD1",
          "ensemblId": "ENSG00000103353",
          "biotype": "protein_coding",
          "start": 23557557,
          "end": 23574394,
          "strand": "+",
          "slug": "ubfd1"
        },
        {
          "symbol": "NDUFAB1",
          "ensemblId": "ENSG00000004779",
          "biotype": "protein_coding",
          "start": 23580952,
          "end": 23596328,
          "strand": "-",
          "slug": "ndufab1"
        },
        {
          "symbol": "PALB2",
          "ensemblId": "ENSG00000083093",
          "biotype": "protein_coding",
          "start": 23603158,
          "end": 23641342,
          "strand": "-",
          "slug": "palb2"
        },
        {
          "symbol": "DCTN5",
          "ensemblId": "ENSG00000166847",
          "biotype": "protein_coding",
          "start": 23641380,
          "end": 23677472,
          "strand": "+",
          "slug": "dctn5"
        },
        {
          "symbol": "PLK1",
          "ensemblId": "ENSG00000166851",
          "biotype": "protein_coding",
          "start": 23677656,
          "end": 23690372,
          "strand": "+",
          "slug": "plk1"
        },
        {
          "symbol": "ERN2",
          "ensemblId": "ENSG00000134398",
          "biotype": "protein_coding",
          "start": 23688117,
          "end": 23713255,
          "strand": "-",
          "slug": "ern2"
        },
        {
          "symbol": "CHP2",
          "ensemblId": "ENSG00000166869",
          "biotype": "protein_coding",
          "start": 23754618,
          "end": 23759058,
          "strand": "+",
          "slug": "chp2"
        },
        {
          "symbol": "PRKCB",
          "ensemblId": "ENSG00000166501",
          "biotype": "protein_coding",
          "start": 23835939,
          "end": 24220611,
          "strand": "+",
          "slug": "prkcb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "monogenic-hypertension-mineralocorticoid-disorders",
        "name": "Monogenic Hypertension & Mineralocorticoid Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0008323",
            "name": "Liddle Syndrome",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "An overactive kidney sodium channel, caused by changes in SCNN1B, SCNN1G or SCNN1A, that leads to early-onset high blood pressure, often with low potassium and low aldosterone.",
            "management": "Knowing about it points to treatment with amiloride or triamterene, which target the overactive channel directly.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019161",
            "name": "Pseudohypoaldosteronism Type 1",
            "genes": 4,
            "inheritance": null,
            "description": "A salt-wasting condition in which the body does not respond to aldosterone, caused by changes in NR3C2 (a milder kidney-limited form) or in the SCNN1 sodium-channel genes (a more severe, multi-organ form).",
            "management": "Knowing about it supports early salt supplementation and monitoring of potassium in infancy.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/monogenic-hypertension-mineralocorticoid-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-aldosterone-concentration",
        "name": "Abnormal circulating aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-aldosterone-concentration"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "acute-infectious-pneumonia",
        "name": "Acute infectious pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-infectious-pneumonia"
      },
      {
        "slug": "atopic-dermatitis",
        "name": "Baby eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atopic-dermatitis"
      },
      {
        "slug": "halitosis",
        "name": "Bad breath",
        "systems": [
          "abnormality-of-head-or-neck",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/halitosis"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "chronic-bronchitis",
        "name": "Chronic bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/chronic-bronchitis"
      },
      {
        "slug": "clubbing",
        "name": "Clubbing of fingers and toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/clubbing"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "crackles",
        "name": "Crackles",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/crackles"
      },
      {
        "slug": "decreased-circulating-renin-concentration",
        "name": "Decreased circulating renin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "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": "cerebral-ischemia",
        "name": "Disruption of blood oxygen supply to brain",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-ischemia"
      },
      {
        "slug": "increased-circulating-renin-concentration",
        "name": "Elevated blood renin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-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"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "elevated-sweat-chloride",
        "name": "Elevated sweat chloride",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-sweat-chloride"
      },
      {
        "slug": "emphysema",
        "name": "Emphysema",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emphysema"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "abnormal-respiratory-system-physiology",
        "name": "Functional respiratory abnormality",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-respiratory-system-physiology"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "glucocortocoid-insensitive-primary-hyperaldosteronism",
        "name": "Glucocortocoid-insensitive primary hyperaldosteronism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glucocortocoid-insensitive-primary-hyperaldosteronism"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hypokalemic-alkalosis",
        "name": "Hypokalemic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemic-alkalosis"
      },
      {
        "slug": "hypovolemic-shock",
        "name": "Hypovolemic shock",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypovolemic-shock"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "pustule",
        "name": "Pimple",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pustule"
      },
      {
        "slug": "proportionate-short-stature",
        "name": "Proportionate short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proportionate-short-stature"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-haemophilus-influenzae-infection",
        "name": "Recurrent Haemophilus influenzae infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-haemophilus-influenzae-infection"
      },
      {
        "slug": "recurrent-tonsillitis",
        "name": "Recurrent inflammation of tonsils",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-tonsillitis"
      },
      {
        "slug": "recurrent-upper-and-lower-respiratory-tract-infections",
        "name": "Recurrent upper and lower respiratory tract infections",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-upper-and-lower-respiratory-tract-infections"
      },
      {
        "slug": "reduced-fev1-fvc-ratio",
        "name": "Reduced FEV1/FVC ratio",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-fev1-fvc-ratio"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "cachexia",
        "name": "Wasting syndrome",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cachexia"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "productive-cough",
        "name": "Wet cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/productive-cough"
      },
      {
        "slug": "wheezing",
        "name": "Wheezing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wheezing"
      }
    ],
    "related": [
      {
        "slug": "scnn1g",
        "symbol": "SCNN1G",
        "name": "sodium channel epithelial 1 subunit gamma",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/scnn1g"
      },
      {
        "slug": "nr3c2",
        "symbol": "NR3C2",
        "name": "nuclear receptor subfamily 3 group C member 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/nr3c2"
      },
      {
        "slug": "scnn1a",
        "symbol": "SCNN1A",
        "name": "sodium channel epithelial 1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/scnn1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}