{
  "url": "https://dantelabs.com/da/genes/kcnj16",
  "gene": {
    "slug": "kcnj16",
    "symbol": "KCNJ16",
    "name": "potassium inwardly rectifying channel subfamily J member 16",
    "hgnc": "HGNC:6262",
    "summary": null,
    "location": "17q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "Kir5.1",
      "BIR9"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000153822",
    "entrezId": 3773,
    "omim": [
      "605722"
    ],
    "uniprot": [
      "Q9NPI9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 70075225,
      "end": 70135608,
      "strand": "+",
      "ensemblTranscript": "ENST00000392671.6",
      "refseqTranscript": "NM_170741.4",
      "ensemblProtein": "ENSP00000376439.1",
      "refseqProtein": "NP_733937.3",
      "exons": [
        {
          "start": 70075225,
          "end": 70075390
        },
        {
          "start": 70100658,
          "end": 70100766
        },
        {
          "start": 70130879,
          "end": 70130975
        },
        {
          "start": 70131995,
          "end": 70135608
        }
      ],
      "cds": {
        "start": 70132088,
        "end": 70133344
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 68049570,
      "end": 68131749,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 69605417,
      "end": 70605416,
      "genes": [
        {
          "symbol": "KCNJ2",
          "ensemblId": "ENSG00000123700",
          "biotype": "protein_coding",
          "start": 70168302,
          "end": 70180044,
          "strand": "+",
          "slug": "kcnj2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "kcnj16-related-hypokalaemic-tubulopathy",
        "name": "KCNJ16-relateret hypokalæmisk tubulopati",
        "diseases": [
          {
            "mondoId": "MONDO:0009423",
            "name": "KCNJ16-relateret hypokalæmisk tubulopati",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Skyldes funktionstabende ændringer i begge kopier af KCNJ16, som koder for underenheden Kir5.1 i kaliumkanalen, der anvendes i nyrernes tubuli. Hver forælder bærer typisk én ændret kopi.",
            "management": "Kaliumtilskud og korrektion af syre-base-balancen, under vejledning af en nyrespecialist, med regelmæssige blodprøver og høreundersøgelse. Genetisk rådgivning og bæreranalyse af slægtninge kan afklare risikoen for gentagelse.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/kcnj16-related-hypokalaemic-tubulopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acidosis",
        "name": "Acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acidosis"
      },
      {
        "slug": "increased-circulating-renin-concentration",
        "name": "Elevated blood renin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "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": "renal-salt-wasting",
        "name": "Loss of salt in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-salt-wasting"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}