{ "url": "https://dantelabs.com/tr/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, "end": 861343 }, { "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": "Kalıtsal Duyusal ve Otonom Nöropatiler (Familyal Disotonomi Dahil)", "diseases": [ { "mondoId": "MONDO:0015364", "name": "Kalıtsal Duyusal ve Otonom Nöropati", "genes": 21, "inheritance": null, "description": "Familyal disotonomi (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) ve konjenital ağrı duyarsızlığı (NTRK1, SCN9A, PRDM12) dahil olmak üzere bir nöropati grubudur. Bunların çoğu çekiniktir; HSAN1 ise baskındır.", "management": "Fark edilmeyen yaralanmalara, yanıklara ve enfeksiyonlara karşı koruma, otonom semptomların yönetimi ve yakınlar için taşıyıcılık testi (familyal disotonomi, Aşkenazi Yahudi taşıyıcı taramasına dahildir).", "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/tr/conditions/hereditary-sensory-and-autonomic-neuropathies" }, { "slug": "monogenic-hypertension-mineralocorticoid-disorders", "name": "Monogenik Hipertansiyon ve Mineralokortikoid Bozuklukları", "diseases": [ { "mondoId": "MONDO:0019162", "name": "Tip 2 Psödohipoaldosteronizm (Gordon Sendromu)", "genes": 4, "inheritance": "autosomal-dominant", "description": "WNK1, WNK4, KLHL3 veya CUL3 değişikliklerinden kaynaklanan, yüksek potasyum ve kanda asit birikimiyle birlikte yüksek tansiyona yol açan bir durum.", "management": "Bu durumun bilinmesi, genellikle hem tansiyonu hem de potasyumu düzelten tiazid diüretiklerine işaret eder.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/monogenic-hypertension-mineralocorticoid-disorders" } ], "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": 1, "url": "https://dantelabs.com/tr/genes/aifm1" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/atl1" }, { "slug": "atl3", "symbol": "ATL3", "name": "atlastin GTPase 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/atl3" }, { "slug": "clcf1", "symbol": "CLCF1", "name": "cardiotrophin like cytokine factor 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/clcf1" }, { "slug": "crlf1", "symbol": "CRLF1", "name": "cytokine receptor like factor 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/crlf1" }, { "slug": "cul3", "symbol": "CUL3", "name": "cullin 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/cul3" }, { "slug": "dnmt1", "symbol": "DNMT1", "name": "DNA methyltransferase 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/dnmt1" }, { "slug": "dst", "symbol": "DST", "name": "dystonin", "shared": 1, "url": "https://dantelabs.com/tr/genes/dst" }, { "slug": "elp1", "symbol": "ELP1", "name": "elongator acetyltransferase complex subunit 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/elp1" }, { "slug": "kif1a", "symbol": "KIF1A", "name": "kinesin family member 1A", "shared": 1, "url": "https://dantelabs.com/tr/genes/kif1a" }, { "slug": "klhl3", "symbol": "KLHL3", "name": "kelch like family member 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/klhl3" }, { "slug": "klhl7", "symbol": "KLHL7", "name": "kelch like family member 7", "shared": 1, "url": "https://dantelabs.com/tr/genes/klhl7" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }