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"symbol": "TBC1D24", "ensemblId": "ENSG00000162065", "biotype": "protein_coding", "start": 2475051, "end": 2509671, "strand": "+", "slug": "tbc1d24" }, { "symbol": "", "ensemblId": "ENSG00000260272", "biotype": "protein_coding", "start": 2496032, "end": 2520218, "strand": "+" }, { "symbol": "ATP6V0C", "ensemblId": "ENSG00000185883", "biotype": "protein_coding", "start": 2513713, "end": 2520218, "strand": "+", "slug": "atp6v0c" }, { "symbol": "", "ensemblId": "ENSG00000259784", "biotype": "protein_coding", "start": 2513965, "end": 2527955, "strand": "+" }, { "symbol": "AMDHD2", "ensemblId": "ENSG00000162066", "biotype": "protein_coding", "start": 2520340, "end": 2531422, "strand": "+", "slug": "amdhd2" }, { "symbol": "CEMP1", "ensemblId": "ENSG00000205923", "biotype": "protein_coding", "start": 2530035, "end": 2531417, "strand": "-", "slug": "cemp1" }, { "symbol": "PDPK1", "ensemblId": "ENSG00000140992", "biotype": "protein_coding", "start": 2537969, "end": 2603190, "strand": "+", "slug": "pdpk1" } ], "truncated": false }, "reports": [ { "slug": "polycystic-kidney-disease", "name": "Polycystisk nyresygdom", "diseases": [ { "mondoId": "MONDO:0020642", "name": "Polycystisk nyresygdom", "genes": 11, "inheritance": null, "description": "En genetisk sygdom, der oftest nedarves autosomalt dominant og sjældnere autosomalt recessivt, og som er kendetegnet ved tilstedeværelsen af talrige cyster i nyrerne, der fører til terminal nyresvigt. Den autosomal dominante form er forbundet med afvigelser på det korte arm af kromosom 16. Symptomer hos patienter med den autosomal dominante form opstår typisk i middelalderen og omfatter mavesmerter, blod i urinen og højt blodtryk. Patienter kan udvikle aneurismer i hjernen og cyster i leveren. Patienter med den autosomal recessive form får tidligt i livet progressiv nyresvigt og symptomer som følge af leverfibrose. Den autosomal recessive form er forbundet med afvigelser på kromosom 6. Polycystisk nyresygdom kan også opstå som bivirkning hos patienter i nyredialyse.", "management": "Tolvaptan (Jynarque, FDA 2018) ved hurtigt progredierende ADPKD; blodtryksregulering (mål <110/75); smertebehandling; behandling af cysteinfektion; screening med hjerne-MRA for intrakranielle aneurismer; nyretransplantation ved ESRD", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/polycystic-kidney-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-systemic-arterial-morphology", "name": "Abnormal systemic arterial morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-systemic-arterial-morphology" }, { "slug": "abnormal-urinary-electrolyte-concentration", "name": "Abnormal urinary electrolyte concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-urinary-electrolyte-concentration" }, { "slug": "albuminuria", "name": "Albuminuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/albuminuria" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "dilatation-of-the-cerebral-artery", "name": "Brain aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery" }, { "slug": "aortic-root-aneurysm", "name": "Bulge in wall of root of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-root-aneurysm" }, { "slug": "calcium-oxalate-nephrolithiasis", "name": "Calcium oxalate nephrolithiasis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/calcium-oxalate-nephrolithiasis" }, { "slug": "cerebral-berry-aneurysm", "name": "Cerebral berry aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cerebral-berry-aneurysm" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "colonic-diverticula", "name": "Colonic diverticula", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/colonic-diverticula" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "decreased-glomerular-filtration-rate", "name": "Decreased glomerular filtration rate", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate" }, { "slug": "elevated-circulating-creatinine-concentration", "name": "Elevated creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration" }, { "slug": "enlarged-kidney", "name": "Enlarged kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enlarged-kidney" }, { "slug": "flank-pain", "name": "Flank pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/flank-pain" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "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": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "hepatic-cysts", "name": "Liver cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatic-cysts" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "pancreatic-cysts", "name": "Pancreatic cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatic-cysts" }, { "slug": "pituitary-growth-hormone-cell-adenoma", "name": "Pituitary growth hormone cell adenoma", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pituitary-growth-hormone-cell-adenoma" }, { "slug": "polycystic-kidney-dysplasia", "name": "Polycystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia" }, { "slug": "polycystic-liver-disease", "name": "Polycystic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polycystic-liver-disease" }, { "slug": "pyelonephritis", "name": "Pyelonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pyelonephritis" }, { "slug": "reduced-sperm-motility", "name": "Reduced sperm motility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-sperm-motility" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "uric-acid-nephrolithiasis", "name": "Uric acid stones", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/uric-acid-nephrolithiasis" } ], "related": [ { "slug": "alg5", "symbol": "ALG5", "name": "ALG5 dolichyl-phosphate beta-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/da/genes/alg5" }, { "slug": "alg8", "symbol": "ALG8", "name": "ALG8 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/da/genes/alg8" }, { "slug": "alg9", "symbol": "ALG9", "name": "ALG9 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/da/genes/alg9" }, { "slug": "dnajb11", "symbol": "DNAJB11", "name": "DnaJ heat shock protein family (Hsp40) member B11", "shared": 1, "url": "https://dantelabs.com/da/genes/dnajb11" }, { "slug": "dzip1l", "symbol": "DZIP1L", "name": "DAZ interacting zinc finger protein 1 like", "shared": 1, "url": "https://dantelabs.com/da/genes/dzip1l" }, { "slug": "ganab", "symbol": "GANAB", "name": "glucosidase II alpha subunit", "shared": 1, "url": "https://dantelabs.com/da/genes/ganab" }, { "slug": "ift140", "symbol": "IFT140", "name": "intraflagellar transport 140", "shared": 1, "url": "https://dantelabs.com/da/genes/ift140" }, { "slug": "nek8", "symbol": "NEK8", "name": "NIMA related kinase 8", "shared": 1, "url": "https://dantelabs.com/da/genes/nek8" }, { "slug": "pkd2", "symbol": "PKD2", "name": "polycystin 2, transient receptor potential cation channel", "shared": 1, "url": "https://dantelabs.com/da/genes/pkd2" }, { "slug": "pkhd1", "symbol": "PKHD1", "name": "PKHD1 ciliary IPT domain containing fibrocystin/polyductin", "shared": 1, "url": "https://dantelabs.com/da/genes/pkhd1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }