{ "url": "https://dantelabs.com/es/genes/g6pd", "gene": { "slug": "g6pd", "symbol": "G6PD", "name": "glucose-6-phosphate dehydrogenase", "hgnc": "HGNC:4057", "summary": null, "location": "Xq28", "locusType": "gene with protein product", "aliases": [ "G6PD1" ], "previousSymbols": [], "ensemblId": "ENSG00000160211", "entrezId": 2539, "omim": [ "305900" ], "uniprot": [ "P11413" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 154531391, "end": 154546846, "strand": "-", "ensemblTranscript": "ENST00000393562.10", "refseqTranscript": "NM_001360016.2", "ensemblProtein": "ENSP00000377192.3", "refseqProtein": "NP_001346945.1", "exons": [ { "start": 154531391, "end": 154532090 }, { "start": 154532188, "end": 154532280 }, { "start": 154532386, "end": 154532462 }, { "start": 154532567, "end": 154532802 }, { "start": 154532942, "end": 154533128 }, { "start": 154533576, "end": 154533669 }, { "start": 154534035, "end": 154534160 }, { "start": 154534338, "end": 154534496 }, { 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"protein_coding", "start": 154219756, "end": 154233286, "strand": "+", "slug": "opn1mw2" }, { "symbol": "OPN1MW3", "ensemblId": "ENSG00000269433", "biotype": "protein_coding", "start": 154257582, "end": 154271090, "strand": "+", "slug": "opn1mw3" }, { "symbol": "TEX28", "ensemblId": "ENSG00000278057", "biotype": "protein_coding", "start": 154271265, "end": 154295853, "strand": "-", "slug": "tex28" }, { "symbol": "TKTL1", "ensemblId": "ENSG00000007350", "biotype": "protein_coding", "start": 154295795, "end": 154330350, "strand": "+", "slug": "tktl1" }, { "symbol": "FLNA", "ensemblId": "ENSG00000196924", "biotype": "protein_coding", "start": 154348524, "end": 154374643, "strand": "-", "slug": "flna" }, { "symbol": "EMD", "ensemblId": "ENSG00000102119", "biotype": "protein_coding", "start": 154379205, "end": 154381574, "strand": "+", "slug": "emd" }, { "symbol": "RPL10", "ensemblId": "ENSG00000147403", "biotype": "protein_coding", "start": 154389955, "end": 154409168, "strand": "+", "slug": "rpl10" }, { "symbol": "DNASE1L1", "ensemblId": "ENSG00000013563", "biotype": "protein_coding", "start": 154401236, "end": 154412119, "strand": "-", "slug": "dnase1l1" }, { "symbol": "TAFAZZIN", "ensemblId": "ENSG00000102125", "biotype": "protein_coding", "start": 154409456, "end": 154421726, "strand": "+", "slug": "tafazzin" }, { "symbol": "ATP6AP1", "ensemblId": "ENSG00000071553", "biotype": "protein_coding", "start": 154428618, "end": 154436517, "strand": "+", "slug": "atp6ap1" }, { "symbol": "GDI1", "ensemblId": "ENSG00000203879", "biotype": "protein_coding", "start": 154436600, "end": 154443467, "strand": "+", "slug": "gdi1" }, { "symbol": "FAM50A", "ensemblId": "ENSG00000071859", "biotype": "protein_coding", "start": 154444103, "end": 154450655, "strand": "+", "slug": "fam50a" }, { "symbol": "PLXNA3", "ensemblId": "ENSG00000130827", "biotype": "protein_coding", "start": 154458275, "end": 154477779, "strand": "+", "slug": "plxna3" }, { "symbol": "LAGE3", "ensemblId": "ENSG00000196976", "biotype": "protein_coding", "start": 154477598, "end": 154479291, "strand": "-", "slug": "lage3" }, { "symbol": "UBL4A", "ensemblId": "ENSG00000102178", "biotype": "protein_coding", "start": 154483717, "end": 154486661, "strand": "-", "slug": "ubl4a" }, { "symbol": "SLC10A3", "ensemblId": "ENSG00000126903", "biotype": "protein_coding", "start": 154487306, "end": 154490690, "strand": "-", "slug": "slc10a3" }, { "symbol": "FAM3A", "ensemblId": "ENSG00000071889", "biotype": "protein_coding", "start": 154505019, "end": 154516882, "strand": "-", "slug": "fam3a" }, { "symbol": "IKBKG", "ensemblId": "ENSG00000269335", "biotype": "protein_coding", "start": 154541179, "end": 154568543, "strand": "+", "slug": "ikbkg" }, { "symbol": "CTAG1A", "ensemblId": "ENSG00000268651", "biotype": "protein_coding", "start": 154585133, "end": 154586816, "strand": "+", "slug": "ctag1a" }, { "symbol": "CTAG1B", "ensemblId": "ENSG00000184033", "biotype": "protein_coding", "start": 154617609, "end": 154619282, "strand": "-", "slug": "ctag1b" }, { "symbol": "CTAG2", "ensemblId": "ENSG00000126890", "biotype": "protein_coding", "start": 154651972, "end": 154653579, "strand": "-", "slug": "ctag2" }, { "symbol": "GAB3", "ensemblId": "ENSG00000160219", "biotype": "protein_coding", "start": 154675249, "end": 154751583, "strand": "-", "slug": "gab3" }, { "symbol": "DKC1", "ensemblId": "ENSG00000130826", "biotype": "protein_coding", "start": 154762741, "end": 154777697, "strand": "+", "slug": "dkc1" }, { "symbol": "MPP1", "ensemblId": "ENSG00000130830", "biotype": "protein_coding", "start": 154778684, "end": 154821039, "strand": "-", "slug": "mpp1" }, { "symbol": "SMIM9", "ensemblId": "ENSG00000203870", "biotype": "protein_coding", "start": 154823348, "end": 154834662, "strand": "-", "slug": "smim9" }, { "symbol": "F8", "ensemblId": "ENSG00000185010", "biotype": "protein_coding", "start": 154835788, "end": 155026940, "strand": "-", "slug": "f8" }, { "symbol": "H2AB1", "ensemblId": "ENSG00000274183", "biotype": "protein_coding", "start": 154884972, "end": 154885558, "strand": "+", "slug": "h2ab1" }, { "symbol": "F8A1", "ensemblId": "ENSG00000288722", "biotype": "protein_coding", "start": 154886355, "end": 154888061, "strand": "+", "slug": "f8a1" }, { "symbol": "FUNDC2", "ensemblId": "ENSG00000165775", "biotype": "protein_coding", "start": 155025980, "end": 155065641, "strand": "+", "slug": "fundc2" } ], "truncated": false }, "reports": [ { "slug": "g6pd-deficiency", "name": "Déficit de G6PD", "diseases": [ { "mondoId": "MONDO:0005775", "name": "Déficit de G6PD", "genes": 1, "inheritance": "x-linked-recessive", "description": "Déficit de glucosa-6-fosfato deshidrogenasa, que predispone a la anemia hemolítica desencadenada por estrés oxidativo.", "management": "Evitar los desencadenantes oxidantes (primaquina, rasburicasa, dapsona, nitrofurantoína); manejo de los episodios hemolíticos agudos (tratamiento de soporte, transfusión); fototerapia neonatal o exanguinotransfusión por hiperbilirrubinemia; prueba de G6PD obligatoria antes de tafenoquina (FDA)", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/g6pd-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "decreased-circulating-glucose-6-phosphate-dehydrogenase-activity", "name": "Decreased circulating glucose-6-phosphate dehydrogenase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-glucose-6-phosphate-dehydrogenase-activity" }, { "slug": "increased-total-leukocyte-count", "name": "Elevated white blood count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/increased-total-leukocyte-count" }, { "slug": "fava-bean-induced-hemolytic-anemia", "name": "Fava bean-induced hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fava-bean-induced-hemolytic-anemia" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fever" }, { "slug": "heinz-bodies", "name": "Heinz bodies", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/heinz-bodies" }, { "slug": "hemoglobinuria", "name": "Hemoglobin in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hemoglobinuria" }, { "slug": "reticulocytosis", "name": "Increased immature red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/reticulocytosis" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "nonspherocytic-hemolytic-anemia", "name": "Nonspherocytic hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/nonspherocytic-hemolytic-anemia" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/pallor" }, { "slug": "poikilocytosis", "name": "Poikilocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/poikilocytosis" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "unconjugated-hyperbilirubinemia", "name": "Unconjugated hyperbilirubinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/unconjugated-hyperbilirubinemia" }, { "slug": "anisocytosis", "name": "Unequal size of red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/anisocytosis" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }