{
  "url": "https://dantelabs.com/hu/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": "Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)",
        "diseases": [
          {
            "mondoId": "MONDO:0015364",
            "name": "Hereditary Sensory and Autonomic Neuropathy",
            "genes": 21,
            "inheritance": null,
            "description": "A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.",
            "management": "Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).",
            "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/hu/conditions/hereditary-sensory-and-autonomic-neuropathies"
      },
      {
        "slug": "monogenic-hypertension-mineralocorticoid-disorders",
        "name": "Monogenic Hypertension & Mineralocorticoid Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0019162",
            "name": "Pseudohypoaldosteronism Type 2 (Gordon Syndrome)",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "A condition caused by changes in WNK1, WNK4, KLHL3 or CUL3 that causes high blood pressure with high potassium and acid build-up in the blood.",
            "management": "Knowing about it points to thiazide diuretics, which usually correct both the blood pressure and the potassium.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/monogenic-hypertension-mineralocorticoid-disorders"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Rare Hereditary Peripheral Neuropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Hereditary Peripheral Neuropathy",
            "genes": 233,
            "inheritance": null,
            "description": "Caused by changes in one of many genes needed to keep long nerve fibres healthy. In this report these include IGHMBP2 and PLEKHG5, which are recessive.",
            "management": "Physiotherapy, orthoses and occupational therapy help maintain mobility, with surgery for foot deformities when needed. Some forms need breathing monitoring. Genetic counselling guides family testing according to the inheritance pattern of the gene involved.",
            "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/hu/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/hu/genes/aifm1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atl1"
      },
      {
        "slug": "atl3",
        "symbol": "ATL3",
        "name": "atlastin GTPase 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atl3"
      },
      {
        "slug": "clcf1",
        "symbol": "CLCF1",
        "name": "cardiotrophin like cytokine factor 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/clcf1"
      },
      {
        "slug": "crlf1",
        "symbol": "CRLF1",
        "name": "cytokine receptor like factor 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/crlf1"
      },
      {
        "slug": "dnmt1",
        "symbol": "DNMT1",
        "name": "DNA methyltransferase 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dnmt1"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "name": "dystonin",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dst"
      },
      {
        "slug": "elp1",
        "symbol": "ELP1",
        "name": "elongator acetyltransferase complex subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/elp1"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "name": "kinesin family member 1A",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/kif1a"
      },
      {
        "slug": "klhl7",
        "symbol": "KLHL7",
        "name": "kelch like family member 7",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/klhl7"
      },
      {
        "slug": "ngf",
        "symbol": "NGF",
        "name": "nerve growth factor",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ngf"
      },
      {
        "slug": "ntrk1",
        "symbol": "NTRK1",
        "name": "neurotrophic receptor tyrosine kinase 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ntrk1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}