{ "url": "https://dantelabs.com/fr/genes/piezo1", "gene": { "slug": "piezo1", "symbol": "PIEZO1", "name": "piezo type mechanosensitive ion channel component 1 (Er blood group)", "hgnc": "HGNC:28993", "summary": null, "location": "16q24.3", "locusType": "gene with protein product", "aliases": [ "KIAA0233" ], "previousSymbols": [ "FAM38A" ], "ensemblId": "ENSG00000103335", "entrezId": 9780, "omim": [ "611184" ], "uniprot": [ "Q92508" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 88715338, "end": 88785220, "strand": "-", "ensemblTranscript": "ENST00000301015.14", "refseqTranscript": "NM_001142864.4", "ensemblProtein": "ENSP00000301015.9", "refseqProtein": "NP_001136336.2", "exons": [ { "start": 88715338, "end": 88715854 }, { "start": 88715933, "end": 88716119 }, { "start": 88716198, "end": 88716277 }, { "start": 88716361, "end": 88716483 }, { "start": 88716559, "end": 88716731 }, { "start": 88716806, "end": 88716898 }, { "start": 88717023, "end": 88717211 }, 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"genes": [ { "symbol": "ZNF469", "ensemblId": "ENSG00000225614", "biotype": "protein_coding", "start": 88382959, "end": 88440757, "strand": "+", "slug": "znf469" }, { "symbol": "ZFPM1", "ensemblId": "ENSG00000179588", "biotype": "protein_coding", "start": 88453208, "end": 88537031, "strand": "+", "slug": "zfpm1" }, { "symbol": "ZC3H18", "ensemblId": "ENSG00000158545", "biotype": "protein_coding", "start": 88570388, "end": 88631966, "strand": "+", "slug": "zc3h18" }, { "symbol": "IL17C", "ensemblId": "ENSG00000124391", "biotype": "protein_coding", "start": 88638571, "end": 88640468, "strand": "+", "slug": "il17c" }, { "symbol": "CYBA", "ensemblId": "ENSG00000051523", "biotype": "protein_coding", "start": 88643275, "end": 88651083, "strand": "-", "slug": "cyba" }, { "symbol": "MVD", "ensemblId": "ENSG00000167508", "biotype": "protein_coding", "start": 88651934, "end": 88663166, "strand": "-", "slug": "mvd" }, { "symbol": "SNAI3", "ensemblId": "ENSG00000185669", "biotype": "protein_coding", "start": 88674992, "end": 88686513, "strand": "-", "slug": "snai3" }, { "symbol": "RNF166", "ensemblId": "ENSG00000158717", "biotype": "protein_coding", "start": 88696494, "end": 88706424, "strand": "-", "slug": "rnf166" }, { "symbol": "CTU2", "ensemblId": "ENSG00000174177", "biotype": "protein_coding", "start": 88706470, "end": 88717853, "strand": "+", "slug": "ctu2" }, { "symbol": "CDT1", "ensemblId": "ENSG00000167513", "biotype": "protein_coding", "start": 88803777, "end": 88809258, "strand": "+", "slug": "cdt1" }, { "symbol": "APRT", "ensemblId": "ENSG00000198931", "biotype": "protein_coding", "start": 88808323, "end": 88811970, "strand": "-", "slug": "aprt" }, { "symbol": "GALNS", "ensemblId": "ENSG00000141012", "biotype": "protein_coding", "start": 88813733, "end": 88857832, "strand": "-", "slug": "galns" }, { "symbol": "TRAPPC2L", "ensemblId": "ENSG00000167515", "biotype": "protein_coding", "start": 88856220, "end": 88862686, "strand": "+", "slug": "trappc2l" }, { "symbol": "PABPN1L", "ensemblId": "ENSG00000205022", "biotype": "protein_coding", "start": 88863333, "end": 88866660, "strand": "-", "slug": "pabpn1l" }, { "symbol": "CBFA2T3", "ensemblId": "ENSG00000129993", "biotype": "protein_coding", "start": 88874858, "end": 88977207, "strand": "-", "slug": "cbfa2t3" }, { "symbol": "ACSF3", "ensemblId": "ENSG00000176715", "biotype": "protein_coding", "start": 89088375, "end": 89164121, "strand": "+", "slug": "acsf3" }, { "symbol": "CDH15", "ensemblId": "ENSG00000129910", "biotype": "protein_coding", "start": 89171742, "end": 89195492, "strand": "+", "slug": "cdh15" }, { "symbol": "SLC22A31", "ensemblId": "ENSG00000259803", "biotype": "protein_coding", "start": 89195458, "end": 89201692, "strand": "-", "slug": "slc22a31" }, { "symbol": "ZNF778", "ensemblId": "ENSG00000170100", "biotype": "protein_coding", "start": 89217683, "end": 89237141, "strand": "+", "slug": "znf778" } ], "truncated": false }, "reports": [ { "slug": "primary-lymphoedema-lymphatic-malformations", "name": "Lymphœdème primaire et malformations lymphatiques", "diseases": [ { "mondoId": "MONDO:0014797", "name": "Malformation lymphatique 6", "genes": 1, "inheritance": "autosomal-recessive", "description": "Dysplasie lymphatique généralisée causée par des variants de PIEZO1, pouvant provoquer un gonflement avant la naissance (hydropisie fœtale) et un gonflement persistant toute la vie.", "management": "La connaître éclaire le conseil génétique en matière de procréation et le suivi de la grossesse.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/primary-lymphoedema-lymphatic-malformations" }, { "slug": "red-blood-cell-membrane-disorders", "name": "Troubles de la membrane des globules rouges", "diseases": [ { "mondoId": "MONDO:0020102", "name": "Stomatocytose héréditaire", "genes": 5, "inheritance": "autosomal-dominant", "description": "Groupe de maladies dans lesquelles les globules rouges perdent ou gagnent de l'eau et des sels, notamment la stomatocytose héréditaire déshydratée (PIEZO1, KCNN4), la stomatocytose hyperhydratée (RHAG), l'ovalocytose d'Asie du Sud-Est et le syndrome de déficience Rh, provoquant une anémie hémolytique d'intensité variable et parfois une surcharge en fer.", "management": "Il convient d'éviter l'ablation de la rate, car elle augmente le risque de caillots sanguins graves dans ces maladies.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Strong", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/red-blood-cell-membrane-disorders" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-circulating-potassium-concentration", "name": "Abnormal circulating potassium concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-potassium-concentration" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/ascites" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ 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"increased-circulating-ferritin-concentration", "name": "Elevated serum ferritin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "episodic-fatigue", "name": "Episodic fatigue", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/episodic-fatigue" }, { "slug": "exercise-induced-hemolysis", "name": "Exercise-induced hemolysis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/exercise-induced-hemolysis" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "facial-edema", "name": "Facial puffiness", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/facial-edema" }, { "slug": "pleural-effusion", "name": "Fluid around lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pleural-effusion" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/edema" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "cholelithiasis", "name": "Gallstones", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cholelithiasis" }, { "slug": "generalized-edema", "name": "Generalized edema", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/generalized-edema" }, { "slug": "genital-edema", "name": "Genital edema", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/genital-edema" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hemoglobinuria", "name": "Hemoglobin in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemoglobinuria" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "increased-total-bilirubin", "name": "High bili total", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-bilirubin" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "hydrocele-testis", "name": "Hydrocele testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hydrocele-testis" }, { "slug": "hypochromia", "name": "Hypochromia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypochromia" }, { "slug": "increased-circulating-hemoglobin-concentration", "name": "Increased circulating hemoglobin concentration", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-circulating-hemoglobin-concentration" }, { "slug": "increased-circulating-lactate-dehydrogenase-concentration", "name": "Increased circulating lactate dehydrogenase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration" }, { "slug": "reticulocytosis", "name": "Increased immature red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reticulocytosis" }, { "slug": "increased-mean-corpuscular-hemoglobin-concentration", "name": "Increased mean corpuscular hemoglobin concentration", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-mean-corpuscular-hemoglobin-concentration" }, { "slug": "increased-mean-corpuscular-volume", "name": "Increased mean corpuscular volume", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-mean-corpuscular-volume" }, { "slug": "polycythemia", "name": "Increased red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/polycythemia" }, { "slug": "increased-red-cell-hemolysis-by-shear-stress", "name": "Increased red cell hemolysis by shear stress", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/increased-red-cell-hemolysis-by-shear-stress" }, { "slug": "increased-red-cell-osmotic-fragility", "name": "Increased red cell osmotic fragility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-red-cell-osmotic-fragility" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "intermittent-jaundice", "name": "Intermittent yellow skin", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intermittent-jaundice" }, { "slug": "intestinal-lymphangiectasia", "name": "Intestinal lymphangiectasia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-lymphangiectasia" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "hepatitis", "name": "Liver inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatitis" }, { "slug": "macrocytic-anemia", "name": "Macrocytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macrocytic-anemia" }, { "slug": "neonatal-hyperbilirubinemia", "name": "Neonatal hyperbilirubinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-hyperbilirubinemia" }, { "slug": "nonimmune-hydrops-fetalis", "name": "Nonimmune hydrops fetalis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis" }, { "slug": "nonspherocytic-hemolytic-anemia", "name": "Nonspherocytic hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nonspherocytic-hemolytic-anemia" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pallor" }, { "slug": "periorbital-edema", "name": "Periorbital edema", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/periorbital-edema" }, { "slug": "prune-belly", "name": "Prune belly", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prune-belly" }, { "slug": "pulmonary-venous-hypertension", "name": "Pulmonary venous hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pulmonary-venous-hypertension" }, { "slug": "schistocytosis", "name": "Schistocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/schistocytosis" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "lymphedema", "name": "Swelling caused by excess lymph fluid under skin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/lymphedema" }, { "slug": "thromboembolism", "name": "Thromboembolism", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolism" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "varicose-veins", "name": "Varicose veins", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/varicose-veins" }, { "slug": "webbed-neck", "name": "Webbed neck", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/webbed-neck" }, { "slug": "conjunctival-icterus", "name": "Yellowing of the whites of the eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/conjunctival-icterus" } ], "related": [ { "slug": "kcnn4", "symbol": "KCNN4", "name": "potassium calcium-activated channel subfamily N member 4", "shared": 1, "url": "https://dantelabs.com/fr/genes/kcnn4" }, { "slug": "rhag", "symbol": "RHAG", "name": "Rh associated glycoprotein", "shared": 1, "url": "https://dantelabs.com/fr/genes/rhag" }, { "slug": "rhce", "symbol": "RHCE", "name": "Rh blood group CcEe antigens", "shared": 1, "url": "https://dantelabs.com/fr/genes/rhce" }, { "slug": "slc4a1", "symbol": "SLC4A1", "name": "solute carrier family 4 member 1 (Diego blood group)", "shared": 1, "url": "https://dantelabs.com/fr/genes/slc4a1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }