{
  "url": "https://dantelabs.com/nl/genes/wnk1",
  "gene": {
    "slug": "wnk1",
    "symbol": "WNK1",
    "name": "WNK lysine deficient protein kinase 1",
    "hgnc": "HGNC:14540",
    "summary": null,
    "location": "12p13.33",
    "locusType": "gene with protein product",
    "aliases": [
      "HSAN2",
      "PPP1R167"
    ],
    "previousSymbols": [
      "PRKWNK1",
      "HSN2"
    ],
    "ensemblId": "ENSG00000060237",
    "entrezId": 65125,
    "omim": [
      "605232"
    ],
    "uniprot": [
      "Q9H4A3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 752579,
      "end": 911452,
      "strand": "+",
      "ensemblTranscript": "ENST00000315939.11",
      "refseqTranscript": "NM_018979.4",
      "ensemblProtein": "ENSP00000313059.6",
      "refseqProtein": "NP_061852.3",
      "exons": [
        {
          "start": 752579,
          "end": 754324
        },
        {
          "start": 813642,
          "end": 813814
        },
        {
          "start": 827042,
          "end": 827262
        },
        {
          "start": 830003,
          "end": 830160
        },
        {
          "start": 857161,
          "end": 857249
        },
        {
          "start": 859245,
          "end": 859464
        },
        {
          "start": 861013,
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        },
        {
          "start": 862083,
          "end": 862270
        },
        {
          "start": 871265,
          "end": 871348
        },
        {
          "start": 878212,
          "end": 878361
        },
        {
          "start": 879573,
          "end": 880031
        },
        {
          "start": 880721,
          "end": 880999
        },
        {
          "start": 881692,
          "end": 881789
        },
        {
          "start": 881911,
          "end": 882073
        },
        {
          "start": 882943,
          "end": 883059
        },
        {
          "start": 883395,
          "end": 883568
        },
        {
          "start": 883774,
          "end": 883831
        },
        {
          "start": 884121,
          "end": 884243
        },
        {
          "start": 884649,
          "end": 886084
        },
        {
          "start": 887221,
          "end": 887304
        },
        {
          "start": 889140,
          "end": 889223
        },
        {
          "start": 890453,
          "end": 890513
        },
        {
          "start": 894562,
          "end": 894635
        },
        {
          "start": 896071,
          "end": 896732
        },
        {
          "start": 897479,
          "end": 897681
        },
        {
          "start": 900476,
          "end": 900670
        },
        {
          "start": 907847,
          "end": 908034
        },
        {
          "start": 908475,
          "end": 911452
        }
      ],
      "cds": {
        "start": 753566,
        "end": 908792
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 861759,
      "end": 1020618,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 332016,
      "end": 1332015,
      "genes": [
        {
          "symbol": "KDM5A",
          "ensemblId": "ENSG00000073614",
          "biotype": "protein_coding",
          "start": 279552,
          "end": 389589,
          "strand": "-",
          "slug": "kdm5a"
        },
        {
          "symbol": "CCDC77",
          "ensemblId": "ENSG00000120647",
          "biotype": "protein_coding",
          "start": 389273,
          "end": 442645,
          "strand": "+",
          "slug": "ccdc77"
        },
        {
          "symbol": "B4GALNT3",
          "ensemblId": "ENSG00000139044",
          "biotype": "protein_coding",
          "start": 459923,
          "end": 563509,
          "strand": "+",
          "slug": "b4galnt3"
        },
        {
          "symbol": "NINJ2",
          "ensemblId": "ENSG00000171840",
          "biotype": "protein_coding",
          "start": 562852,
          "end": 663753,
          "strand": "-",
          "slug": "ninj2"
        },
        {
          "symbol": "RAD52",
          "ensemblId": "ENSG00000002016",
          "biotype": "protein_coding",
          "start": 910870,
          "end": 990053,
          "strand": "-",
          "slug": "rad52"
        },
        {
          "symbol": "ERC1",
          "ensemblId": "ENSG00000082805",
          "biotype": "protein_coding",
          "start": 989998,
          "end": 1495933,
          "strand": "+",
          "slug": "erc1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-sensory-and-autonomic-neuropathies",
        "name": "Erfelijke sensorische en autonome neuropathieën (incl. familiale dysautonomie)",
        "diseases": [
          {
            "mondoId": "MONDO:0015364",
            "name": "Erfelijke sensorische en autonome neuropathie",
            "genes": 21,
            "inheritance": null,
            "description": "Een groep neuropathieën, waaronder familiale dysautonomie (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) en congenitale ongevoeligheid voor pijn (NTRK1, SCN9A, PRDM12). De meeste zijn recessief, terwijl HSAN1 dominant is.",
            "management": "Bescherming tegen onopgemerkte letsels, brandwonden en infecties, behandeling van autonome klachten, en draagerstesten voor familieleden (familiale dysautonomie is opgenomen in de draagersscreening voor Ashkenazi-joodse afkomst).",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/hereditary-sensory-and-autonomic-neuropathies"
      },
      {
        "slug": "monogenic-hypertension-mineralocorticoid-disorders",
        "name": "Monogene hypertensie en mineralocorticoïdstoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0019162",
            "name": "Pseudohypoaldosteronisme type 2 (Gordon-syndroom)",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Een aandoening veroorzaakt door veranderingen in WNK1, WNK4, KLHL3 of CUL3, die hoge bloeddruk veroorzaakt met een hoog kaliumgehalte en zuuropbouw in het bloed.",
            "management": "Als u dit weet, wijst dat op thiazidediuretica, die meestal zowel de bloeddruk als het kaliumgehalte corrigeren.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/monogenic-hypertension-mineralocorticoid-disorders"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Zeldzame erfelijke perifere neuropathieën",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Erfelijke perifere neuropathie",
            "genes": 233,
            "inheritance": null,
            "description": "Veroorzaakt door veranderingen in een van de vele genen die nodig zijn om lange zenuwvezels gezond te houden. In dit rapport gaat het onder meer om IGHMBP2 en PLEKHG5, die recessief zijn.",
            "management": "Fysiotherapie, orthesen en ergotherapie helpen de beweeglijkheid te behouden; bij voetmisvormingen kan een operatie nodig zijn. Sommige vormen vragen om controle van de ademhaling. Erfelijkheidsadvies begeleidt het testen van familieleden volgens het overervingspatroon van het betrokken gen.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cortical-bone-morphology",
        "name": "Abnormal cortical bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology"
      },
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "abnormality-of-the-ankle",
        "name": "Abnormality of the ankle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-ankle"
      },
      {
        "slug": "abnormal-hip-bone-morphology",
        "name": "Abnormality of the hip bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-hip-bone-morphology"
      },
      {
        "slug": "abnormality-of-the-knee",
        "name": "Abnormality of the knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-knee"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "acral-ulceration",
        "name": "Acral ulceration",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/acral-ulceration"
      },
      {
        "slug": "autoamputation-of-digits",
        "name": "Autoamputation of digits",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/autoamputation-of-digits"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "osteolytic-defects-of-the-phalanges-of-the-hand",
        "name": "Breakdown of small bones of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteolytic-defects-of-the-phalanges-of-the-hand"
      },
      {
        "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": "decreased-corneal-reflex",
        "name": "Decreased corneal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/decreased-corneal-reflex"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "decreased-number-of-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-number-of-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "decreased-sensory-nerve-conduction-velocity",
        "name": "Decreased sensory nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-sensory-nerve-conduction-velocity"
      },
      {
        "slug": "decreased-serum-bicarbonate-concentration",
        "name": "Decreased serum bicarbonate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-serum-bicarbonate-concentration"
      },
      {
        "slug": "hypogeusia",
        "name": "Decreased taste",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypogeusia"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "wormian-bones",
        "name": "Extra bones within cranial sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wormian-bones"
      },
      {
        "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": "foot-acroosteolysis",
        "name": "Foot acroosteolysis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/foot-acroosteolysis"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperchloremia",
        "name": "Hyperchloremia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperchloremia"
      },
      {
        "slug": "hyperchloremic-metabolic-acidosis",
        "name": "Hyperchloremic metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperchloremic-metabolic-acidosis"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "anhidrosis",
        "name": "Lack of sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/anhidrosis"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "painless-fractures-due-to-injury",
        "name": "Painless fractures due to injury",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/painless-fractures-due-to-injury"
      },
      {
        "slug": "paronychia",
        "name": "Paronychia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/paronychia"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dystrophic-fingernails",
        "name": "Poor fingernail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dystrophic-fingernails"
      },
      {
        "slug": "dystrophic-toenail",
        "name": "Poor toenail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dystrophic-toenail"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "pseudohypoaldosteronism",
        "name": "Pseudohypoaldosteronism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/pseudohypoaldosteronism"
      },
      {
        "slug": "episodic-hyperhidrosis",
        "name": "Sporadic excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/episodic-hyperhidrosis"
      },
      {
        "slug": "tapered-finger",
        "name": "Tapered finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tapered-finger"
      }
    ],
    "related": [
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/aifm1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atl1"
      },
      {
        "slug": "atl3",
        "symbol": "ATL3",
        "name": "atlastin GTPase 3",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/atl3"
      },
      {
        "slug": "clcf1",
        "symbol": "CLCF1",
        "name": "cardiotrophin like cytokine factor 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/clcf1"
      },
      {
        "slug": "crlf1",
        "symbol": "CRLF1",
        "name": "cytokine receptor like factor 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/crlf1"
      },
      {
        "slug": "dnmt1",
        "symbol": "DNMT1",
        "name": "DNA methyltransferase 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dnmt1"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "name": "dystonin",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dst"
      },
      {
        "slug": "elp1",
        "symbol": "ELP1",
        "name": "elongator acetyltransferase complex subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/elp1"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "name": "kinesin family member 1A",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/kif1a"
      },
      {
        "slug": "klhl7",
        "symbol": "KLHL7",
        "name": "kelch like family member 7",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/klhl7"
      },
      {
        "slug": "ngf",
        "symbol": "NGF",
        "name": "nerve growth factor",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ngf"
      },
      {
        "slug": "ntrk1",
        "symbol": "NTRK1",
        "name": "neurotrophic receptor tyrosine kinase 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ntrk1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}