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31259954, "end": 31332892, "strand": "+", "slug": "itgam" }, { "symbol": "ITGAX", "ensemblId": "ENSG00000140678", "biotype": "protein_coding", "start": 31355134, "end": 31382999, "strand": "+", "slug": "itgax" }, { "symbol": "ITGAD", "ensemblId": "ENSG00000156886", "biotype": "protein_coding", "start": 31393258, "end": 31426505, "strand": "+", "slug": "itgad" }, { "symbol": "COX6A2", "ensemblId": "ENSG00000156885", "biotype": "protein_coding", "start": 31427731, "end": 31428433, "strand": "-", "slug": "cox6a2" }, { "symbol": "ZNF843", "ensemblId": "ENSG00000176723", "biotype": "protein_coding", "start": 31432593, "end": 31444323, "strand": "-", "slug": "znf843" }, { "symbol": "ARMC5", "ensemblId": "ENSG00000140691", "biotype": "protein_coding", "start": 31458080, "end": 31467172, "strand": "+", "slug": "armc5" }, { "symbol": "TGFB1I1", "ensemblId": "ENSG00000140682", "biotype": "protein_coding", "start": 31471585, "end": 31478727, "strand": "+", "slug": "tgfb1i1" }, { "symbol": "RUSF1", "ensemblId": "ENSG00000140688", "biotype": "protein_coding", "start": 31489465, "end": 31509309, "strand": "-", "slug": "rusf1" }, { "symbol": "AHSP", "ensemblId": "ENSG00000169877", "biotype": "protein_coding", "start": 31512938, "end": 31528808, "strand": "+", "slug": "ahsp" }, { "symbol": "KRABD5", "ensemblId": "ENSG00000197302", "biotype": "protein_coding", "start": 31713227, "end": 31794890, "strand": "+", "slug": "krabd5" }, { "symbol": "ZNF267", "ensemblId": "ENSG00000185947", "biotype": "protein_coding", "start": 31873783, "end": 31918055, "strand": "+", "slug": "znf267" } ], "truncated": false }, "reports": [ { "slug": "fanconi-renotubular-syndrome-renal-glucosuria", "name": "Síndrome Renotubular de Fanconi e Glicosúria Renal", "diseases": [ { "mondoId": "MONDO:0009297", "name": "Glicosúria Renal Familiar", "genes": 1, "inheritance": null, "description": "Presença de glicose na urina apesar de a glicemia ser normal, causada por variantes em SLC5A2; é geralmente benigna.", "management": "Conhecer esta informação explica a presença de glicose nos exames de urina e evita um diagnóstico incorreto de diabetes.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/fanconi-renotubular-syndrome-renal-glucosuria" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-insulin-concentration", "name": "Abnormal circulating insulin concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/abnormal-circulating-insulin-concentration" }, { "slug": "renal-tubular-dysfunction", "name": "Abnormal function of filtrating structures in kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-tubular-dysfunction" }, { "slug": "abnormal-oral-glucose-tolerance", "name": "Abnormal oral glucose tolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/abnormal-oral-glucose-tolerance" }, { "slug": "insulin-resistance", "name": "Body fails to respond to insulin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/insulin-resistance" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "elevated-hemoglobin-a1c", "name": "Elevated hemoglobin A1c", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/elevated-hemoglobin-a1c" }, { "slug": "enuresis", "name": "Enuresis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/enuresis" }, { "slug": "enuresis-nocturna", "name": "Enuresis nocturna", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enuresis-nocturna" }, { "slug": "polydipsia", "name": "Extreme thirst", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/polydipsia" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "glycosuria", "name": "Glucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/glycosuria" }, { "slug": "hyperglycemia", "name": "High blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyperglycemia" }, { "slug": "ketosis", "name": "High levels of ketone bodies", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ketosis" }, { "slug": "polyphagia", "name": "Increased appetite", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/polyphagia" }, { "slug": "polyuria", "name": "Increased urine output", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/polyuria" }, { "slug": "nephropathy", "name": "Kidney damage", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nephropathy" }, { "slug": "moderate-postnatal-growth-retardation", "name": "Moderate growth delay in children", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/moderate-postnatal-growth-retardation" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }