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"ENSG00000110046", "biotype": "protein_coding", "start": 64894531, "end": 64917249, "strand": "-", "slug": "atg2a" }, { "symbol": "PPP2R5B", "ensemblId": "ENSG00000068971", "biotype": "protein_coding", "start": 64917553, "end": 64934480, "strand": "+", "slug": "ppp2r5b" }, { "symbol": "GPHA2", "ensemblId": "ENSG00000149735", "biotype": "protein_coding", "start": 64934471, "end": 64935894, "strand": "-", "slug": "gpha2" }, { "symbol": "MAJIN", "ensemblId": "ENSG00000168070", "biotype": "protein_coding", "start": 64937517, "end": 64972113, "strand": "-", "slug": "majin" }, { "symbol": "BATF2", "ensemblId": "ENSG00000168062", "biotype": "protein_coding", "start": 64987945, "end": 64997018, "strand": "-", "slug": "batf2" }, { "symbol": "ARL2", "ensemblId": "ENSG00000213465", "biotype": "protein_coding", "start": 65013735, "end": 65024328, "strand": "+", "slug": "arl2" }, { "symbol": "ARL2-SNX15", "ensemblId": "ENSG00000273003", "biotype": "protein_coding", "start": 65014182, "end": 65040570, "strand": "+", "slug": "arl2-snx15" }, { "symbol": "SNX15", "ensemblId": "ENSG00000110025", "biotype": "protein_coding", "start": 65027404, "end": 65040578, "strand": "+", "slug": "snx15" }, { "symbol": "SAC3D1", "ensemblId": "ENSG00000168061", "biotype": "protein_coding", "start": 65040897, "end": 65047320, "strand": "+", "slug": "sac3d1" }, { "symbol": "NAALADL1", "ensemblId": "ENSG00000168060", "biotype": "protein_coding", "start": 65044818, "end": 65058558, "strand": "-", "slug": "naaladl1" }, { "symbol": "CDCA5", "ensemblId": "ENSG00000146670", "biotype": "protein_coding", "start": 65066299, "end": 65084164, "strand": "-", "slug": "cdca5" }, { "symbol": "ZFPL1", "ensemblId": "ENSG00000162300", "biotype": "protein_coding", "start": 65084210, "end": 65088409, "strand": "+", "slug": "zfpl1" }, { "symbol": "CATSPERH", "ensemblId": "ENSG00000187066", "biotype": "protein_coding", "start": 65084974, "end": 65089375, "strand": "-", "slug": "catsperh" }, { "symbol": "VPS51", "ensemblId": "ENSG00000149823", "biotype": "protein_coding", "start": 65089324, "end": 65111862, "strand": "+", "slug": "vps51" } ], "truncated": false }, "reports": [ { "slug": "renal-hypouricemia", "name": "Renal hypourisemi", "diseases": [ { "mondoId": "MONDO:0009071", "name": "Arvelig renal hypourisemi", "genes": 2, "inheritance": "autosomal-recessive", "description": "En recessiv forstyrrelse i tilbakeopptaket av urinsyre i nyrene, forårsaket av varianter i SLC22A12 eller SLC2A9, og assosiert med akutt nyreskade utløst av trening og urinsyrestein.", "management": "Kunnskapen kan hjelpe deg med å holde godt hydrert og unngå ekstrem anaerob trening for å redusere risikoen for nyreskade.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/no/conditions/renal-hypouricemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-renal-physiology", "name": "Abnormal kidney function", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-renal-physiology" }, { "slug": "abnormal-renal-tubule-morphology", "name": "Abnormal renal tubule morphology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-renal-tubule-morphology" }, { "slug": "acute-kidney-injury", "name": "Acute kidney injury", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acute-kidney-injury" }, { "slug": "back-pain", "name": "Back pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/back-pain" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "decreased-glomerular-filtration-rate", "name": "Decreased glomerular filtration rate", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate" }, { "slug": "elevated-circulating-creatinine-concentration", "name": "Elevated creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration" }, { "slug": "elevated-fractional-excretion-of-urate", "name": "Elevated fractional excretion of urate", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-fractional-excretion-of-urate" }, { "slug": "hypercalciuria", "name": "Elevated urine calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypercalciuria" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "hyperuricosuria", "name": "High urine uric acid level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperuricosuria" }, { "slug": "increased-blood-urea-nitrogen", "name": "Increased blood urea nitrogen", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-blood-urea-nitrogen" }, { "slug": "hypouricemia", "name": "Low blood uric acid levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypouricemia" }, { "slug": "mild-proteinuria", "name": "Mild proteinuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-proteinuria" }, { "slug": "nausea", "name": "Nausea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nausea" }, { "slug": "oliguria", "name": "Oliguria", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oliguria" }, { "slug": "postexertional-symptom-exacerbation", "name": "Postexertional symptom exacerbation", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postexertional-symptom-exacerbation" }, { "slug": "renal-cortical-hyperechogenicity", "name": "Renal cortical hyperechogenicity", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-cortical-hyperechogenicity" }, { "slug": "renal-tubular-epithelial-necrosis", "name": "Renal tubular epithelial necrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-tubular-epithelial-necrosis" }, { "slug": "uric-acid-nephrolithiasis", "name": "Uric acid stones", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/uric-acid-nephrolithiasis" }, { "slug": "uric-acid-urolithiasis-independent-of-gout", "name": "Uric acid urolithiasis independent of gout", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/uric-acid-urolithiasis-independent-of-gout" }, { "slug": "urolithiasis", "name": "Urolithiasis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/urolithiasis" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "slc2a9", "symbol": "SLC2A9", "name": "solute carrier family 2 member 9", "shared": 1, "url": "https://dantelabs.com/no/genes/slc2a9" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }