{ "url": "https://dantelabs.com/pl/genes/slc26a4", "gene": { "slug": "slc26a4", "symbol": "SLC26A4", "name": "solute carrier family 26 member 4", "hgnc": "HGNC:8818", "summary": null, "location": "7q22.3", "locusType": "gene with protein product", "aliases": [ "PDS" ], "previousSymbols": [ "DFNB4" ], "ensemblId": "ENSG00000091137", "entrezId": 5172, "omim": [ "605646" ], "uniprot": [ "O43511" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 107660828, "end": 107717809, "strand": "+", "ensemblTranscript": "ENST00000644269.2", "refseqTranscript": "NM_000441.2", "ensemblProtein": "ENSP00000494017.1", "refseqProtein": "NP_000432.1", "exons": [ { "start": 107660828, "end": 107660855 }, { "start": 107661639, "end": 107661805 }, { "start": 107663296, "end": 107663435 }, { "start": 107672138, "end": 107672248 }, { "start": 107674164, "end": 107674348 }, { "start": 107674945, "end": 107675109 }, { "start": 107683202, "end": 107683354 }, { "start": 107683455, "end": 107683537 }, { "start": 107689053, "end": 107689200 }, { "start": 107690124, "end": 107690237 }, { "start": 107694403, "end": 107694480 }, { "start": 107694621, "end": 107694716 }, { "start": 107695933, "end": 107696039 }, { "start": 107698042, "end": 107698111 }, { "start": 107700083, "end": 107700175 }, { "start": 107701101, "end": 107701196 }, { "start": 107701827, "end": 107702057 }, { "start": 107704331, "end": 107704385 }, { "start": 107710054, "end": 107710199 }, { "start": 107712539, "end": 107712622 }, { "start": 107715423, "end": 107717809 } ], "cds": { "start": 107661642, "end": 107715446 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 107301080, "end": 107358254, "strand": "+" }, "neighbourhood": { "release": "116", "start": 107189319, "end": 108189318, "genes": [ { "symbol": "HBP1", "ensemblId": "ENSG00000105856", "biotype": "protein_coding", "start": 107168961, "end": 107202529, "strand": "+", "slug": "hbp1" }, { "symbol": "COG5", "ensemblId": "ENSG00000164597", "biotype": "protein_coding", "start": 107198800, "end": 107564515, "strand": "-", "slug": "cog5" }, { "symbol": "GPR22", "ensemblId": "ENSG00000172209", "biotype": "protein_coding", "start": 107470018, "end": 107478011, "strand": "+", "slug": "gpr22" }, { "symbol": "DUS4L", "ensemblId": "ENSG00000105865", "biotype": "protein_coding", "start": 107563484, "end": 107579483, "strand": "+", "slug": "dus4l" }, { "symbol": "DUS4L-BCAP29", "ensemblId": "ENSG00000288558", "biotype": "protein_coding", "start": 107563971, "end": 107623317, "strand": "+", "slug": "dus4l-bcap29" }, { "symbol": "BCAP29", "ensemblId": "ENSG00000075790", "biotype": "protein_coding", "start": 107579957, "end": 107633139, "strand": "+", "slug": "bcap29" }, { "symbol": "CBLL1", "ensemblId": "ENSG00000105879", "biotype": "protein_coding", "start": 107743073, "end": 107762079, "strand": "+", "slug": "cbll1" }, { "symbol": "SLC26A3", "ensemblId": "ENSG00000091138", "biotype": "protein_coding", "start": 107764219, "end": 107803630, "strand": "-", "slug": "slc26a3" }, { "symbol": "DLD", "ensemblId": "ENSG00000091140", "biotype": "protein_coding", "start": 107891136, "end": 107931730, "strand": "+", "slug": "dld" }, { "symbol": "LAMB1", "ensemblId": "ENSG00000091136", "biotype": "protein_coding", "start": 107921975, "end": 108004434, "strand": "-", "slug": "lamb1" }, { "symbol": "LAMB4", "ensemblId": "ENSG00000091128", "biotype": "protein_coding", "start": 108023548, "end": 108130367, "strand": "-", "slug": "lamb4" }, { "symbol": "NRCAM", "ensemblId": "ENSG00000091129", "biotype": "protein_coding", "start": 108147623, "end": 108456717, "strand": "-", "slug": "nrcam" } ], "truncated": false }, "reports": [ { "slug": "congenital-hypothyroidism", "name": "Wrodzona niedoczynność tarczycy", "diseases": [ { "mondoId": "MONDO:0018612", "name": "Wrodzona niedoczynność tarczycy", "genes": 18, "inheritance": null, "description": "Niedobór hormonów tarczycy obecny od urodzenia.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Natera" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/congenital-hypothyroidism" }, { "slug": "pendred-syndrome", "name": "Zespół Pendreda", "diseases": [ { "mondoId": "MONDO:0010134", "name": "Zespół Pendreda", "genes": 1, "inheritance": "autosomal-recessive", "description": "Zespół Pendreda (PDS) to zróżnicowana klinicznie choroba genetyczna, charakteryzująca się obustronnym czuciowo-nerwowym ubytkiem słuchu oraz wolem eutyreoidalnym.", "management": "Aparaty słuchowe, a w miarę postępu choroby implant ślimakowy; monitorowanie tarczycy (roczne oznaczanie TSH, USG tarczycy); unikanie urazów głowy; chirurgiczne wszczepienie implantu ślimakowego z techniką dostosowaną do poszerzonego wodociągu przedsionka (EVA); lewotyroksyna w przypadku niedoczynności tarczycy", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Natera" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false }, { "mondoId": "MONDO:0010933", "name": "Autosomalna recesywna niezespołowa głuchota 4 (poszerzony wodociąg przedsionka)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Głuchota związana z genem SLC26A4, z poszerzonym wodociągiem przedsionka, bez wola; należy do tego samego spektrum co zespół Pendreda.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/pendred-syndrome" }, { "slug": "thyroid-cancer-report", "name": "Rak tarczycy", "diseases": [ { "mondoId": "MONDO:0045046", "name": "Dziedziczna choroba metabolizmu tarczycy", "genes": 8, "inheritance": null, "description": "Dziedziczna choroba metaboliczna, której podłożem jest zaburzenie procesu metabolizmu hormonów tarczycy.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Natera" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0005420", "name": "Niedoczynność tarczycy", "genes": 18, "inheritance": null, "description": "Nieprawidłowo niskie stężenie hormonów tarczycy.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Natera" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0003240", "name": "Zaburzenie gruczołu tarczowego", "genes": 21, "inheritance": null, "description": "Choroba dotycząca gruczołu tarczowego.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "Natera" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/thyroid-cancer-report" }, { "slug": "hearing-loss-and-deafness", "name": "Utrata słuchu i głuchota", "diseases": [ { "mondoId": "MONDO:0019497", "name": "Niezespołowa genetyczna utrata słuchu", "genes": 97, "inheritance": null, "description": "Dziedziczna utrata słuchu bez innych objawów medycznych, obejmująca częste recesywne postacie wywoływane przez GJB2, OTOF, SLC26A4, STRC i wiele innych genów, a także postacie dominujące, sprzężone z chromosomem X oraz mitochondrialne.", "management": "Znajomość genetycznej przyczyny może pomóc w wyborze wsparcia słuchowego i decyzji dotyczących implantu ślimakowego, kwalifikacji do badań terapii genowych (na przykład w przypadku OTOF) oraz poradnictwa rodzinnego.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abnormal-circulating-thyroglobulin-concentration", "name": "Abnormal circulating thyroglobulin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-thyroglobulin-concentration" }, { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "abnormality-of-the-face", "name": "Abnormality of the face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-face" }, { "slug": "abnormality-of-the-inner-ear", "name": "Abnormality of the inner ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-inner-ear" }, { "slug": "macroglossia", "name": "Abnormally large tongue", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macroglossia" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "cochlear-malformation", "name": "Cochlear malformation", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/cochlear-malformation" }, { "slug": "coldness", "name": "Coldness", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coldness" }, { "slug": "compensated-hypothyroidism", "name": "Compensated hypothyroidism", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/compensated-hypothyroidism" }, { "slug": "congenital-sensorineural-hearing-impairment", "name": "Congenital sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "hyperparathyroidism", "name": "Elevated blood parathyroid hormone level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperparathyroidism" }, { "slug": "elevated-circulating-thyroglobulin-concentration", "name": "Elevated circulating thyroglobulin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-thyroglobulin-concentration" }, { "slug": "goiter", "name": "Enlarged thyroid gland in neck", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/goiter" }, { "slug": "enlarged-vestibular-aqueduct", "name": "Enlarged vestibular aqueduct", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/enlarged-vestibular-aqueduct" }, { "slug": "excessive-daytime-somnolence", "name": "Excessive daytime sleepiness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/excessive-daytime-somnolence" }, { "slug": "facial-edema", "name": "Facial puffiness", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-edema" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hoarse-cry", "name": "Hoarse cry", "systems": [ "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hoarse-cry" }, { "slug": "hypoplasia-of-the-cochlea", "name": "Hypoplasia of the cochlea", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-cochlea" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "nephropathy", "name": "Kidney damage", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephropathy" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "tracheal-stenosis", "name": "Narrowing of windpipe", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tracheal-stenosis" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "thyroid-hypoplasia", "name": "Small thyroid gland", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thyroid-hypoplasia" }, { "slug": "thyroid-agenesis", "name": "Thyroid agenesis", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thyroid-agenesis" }, { "slug": "thyroid-carcinoma", "name": "Thyroid carcinoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thyroid-carcinoma" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "unconjugated-hyperbilirubinemia", "name": "Unconjugated hyperbilirubinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unconjugated-hyperbilirubinemia" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "large-fontanelles", "name": "Wide fontanelles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/large-fontanelles" } ], "related": [ { "slug": "duox2", "symbol": "DUOX2", "name": "dual oxidase 2", "shared": 4, "url": "https://dantelabs.com/pl/genes/duox2" }, { "slug": "duoxa2", "symbol": "DUOXA2", "name": "dual oxidase maturation factor 2", "shared": 4, "url": "https://dantelabs.com/pl/genes/duoxa2" }, { "slug": "iyd", "symbol": "IYD", "name": "iodotyrosine deiodinase", "shared": 4, "url": "https://dantelabs.com/pl/genes/iyd" }, { "slug": "slc5a5", "symbol": "SLC5A5", "name": "solute carrier family 5 member 5", "shared": 4, "url": "https://dantelabs.com/pl/genes/slc5a5" }, { "slug": "tg", "symbol": "TG", "name": "thyroglobulin", "shared": 4, "url": "https://dantelabs.com/pl/genes/tg" }, { "slug": "tpo", "symbol": "TPO", "name": "thyroid peroxidase", "shared": 4, "url": "https://dantelabs.com/pl/genes/tpo" }, { "slug": "igsf1", "symbol": "IGSF1", "name": "immunoglobulin superfamily member 1", "shared": 3, "url": "https://dantelabs.com/pl/genes/igsf1" }, { "slug": "irs4", "symbol": "IRS4", "name": "insulin receptor substrate 4", "shared": 3, "url": "https://dantelabs.com/pl/genes/irs4" }, { "slug": "nkx2-5", "symbol": "NKX2-5", "name": "NK2 homeobox 5", "shared": 3, "url": "https://dantelabs.com/pl/genes/nkx2-5" }, { "slug": "pax8", "symbol": "PAX8", "name": "paired box 8", "shared": 3, "url": "https://dantelabs.com/pl/genes/pax8" }, { "slug": "secisbp2", "symbol": "SECISBP2", "name": "SECIS binding protein 2", "shared": 3, "url": "https://dantelabs.com/pl/genes/secisbp2" }, { "slug": "slc26a7", "symbol": "SLC26A7", "name": "solute carrier family 26 member 7", "shared": 3, "url": "https://dantelabs.com/pl/genes/slc26a7" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 14, "url": "https://dantelabs.com/genes/slc26a4/variants", "items": [ { "slug": "c-919-2a-g", "name": "c.919-2A>G", "commonName": "IVS7-2A>G", "symbol": "SLC26A4", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 107683453, "grch37Position": 107323898, "part": { "kind": "intron", "number": 7 }, "url": "https://dantelabs.com/genes/slc26a4/variants/c-919-2a-g" }, { "slug": "c282y", "name": "C282Y", "commonName": null, "symbol": "SLC26A4", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.845G>A", "position": 107683281, "grch37Position": 107323726, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/slc26a4/variants/c282y" }, { "slug": "c565y", "name": "C565Y", "commonName": null, "symbol": "SLC26A4", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.1694G>A", "position": 107700162, "grch37Position": 107340607, "part": { "kind": "exon", 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