{ "url": "https://dantelabs.com/de/genes/cep83", "gene": { "slug": "cep83", "symbol": "CEP83", "name": "centrosomal protein 83", "hgnc": "HGNC:17966", "summary": null, "location": "12q22", "locusType": "gene with protein product", "aliases": [ "NY-REN-58", "NPHP18" ], "previousSymbols": [ "CCDC41" ], "ensemblId": "ENSG00000173588", "entrezId": 51134, "omim": [ "615847" ], "uniprot": [ "Q9Y592" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 94307698, "end": 94459867, "strand": "-", "ensemblTranscript": "ENST00000397809.10", "refseqTranscript": "NM_016122.3", "ensemblProtein": "ENSP00000380911.4", "refseqProtein": "NP_057206.2", "exons": [ { "start": 94307698, "end": 94308917 }, { "start": 94309918, "end": 94310107 }, { "start": 94312914, "end": 94313017 }, { "start": 94331700, "end": 94331829 }, { "start": 94333482, "end": 94333639 }, { "start": 94335589, "end": 94335664 }, { "start": 94367794, "end": 94367943 }, { "start": 94368057, "end": 94368201 }, { "start": 94369922, "end": 94370036 }, { "start": 94375886, "end": 94376017 }, { "start": 94378791, "end": 94379042 }, { "start": 94400850, "end": 94400981 }, { "start": 94403170, "end": 94403262 }, { "start": 94411697, "end": 94411847 }, { "start": 94412318, "end": 94412591 }, { "start": 94435275, "end": 94435327 }, { "start": 94459557, "end": 94459867 } ], "cds": { "start": 94308813, "end": 94412490 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 94700225, "end": 94853764, "strand": "-" }, "neighbourhood": { "release": "116", "start": 93883783, "end": 94883782, "genes": [ { "symbol": "CRADD", "ensemblId": "ENSG00000169372", "biotype": "protein_coding", "start": 93677375, "end": 93894840, "strand": "+", "slug": "cradd" }, { "symbol": "PLXNC1", "ensemblId": "ENSG00000136040", "biotype": "protein_coding", "start": 94148555, "end": 94307675, "strand": "+", "slug": "plxnc1" }, { "symbol": "TMCC3", "ensemblId": "ENSG00000057704", "biotype": "protein_coding", "start": 94567122, "end": 94650614, "strand": "-", "slug": "tmcc3" }, { "symbol": "NDUFA12", "ensemblId": "ENSG00000184752", "biotype": "protein_coding", "start": 94877059, "end": 95003748, "strand": "-", "slug": "ndufa12" } ], "truncated": false }, "reports": [ { "slug": "nephronophthisis-senior-loken-syndrome", "name": "Nephronophthise und Senior-Løken-Syndrom", "diseases": [ { "mondoId": "MONDO:0019005", "name": "Nephronophthise", "genes": 17, "inheritance": "autosomal-recessive", "description": "Eine autosomal-rezessiv vererbte Nierenerkrankung, die durch Varianten in NPHP1 und anderen Ziliengenen verursacht wird. Die fortschreitende tubulointerstitielle Vernarbung führt typischerweise in den ersten drei Lebensjahrzehnten zu Nierenversagen.", "management": "Das Wissen um die Erkrankung ermöglicht regelmäßige Kontrollen der Nierenfunktion, die rechtzeitige Planung einer Dialyse oder Transplantation sowie Trägertests für Verwandte.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/nephronophthisis-senior-loken-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "nephronophthisis", "name": "Nephronophthisis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nephronophthisis" }, { "slug": "portal-fibrosis", "name": "Portal fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/portal-fibrosis" }, { "slug": "renal-tubular-atrophy", "name": "Renal tubular atrophy", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-tubular-atrophy" }, { "slug": "retinitis", "name": "Retinitis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinitis" }, { "slug": "cholestasis", "name": "Slowed or blocked flow of bile from liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cholestasis" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "thickened-glomerular-basement-membrane", "name": "Thickened glomerular basement membrane", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thickened-glomerular-basement-membrane" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "tubulointerstitial-nephritis", "name": "Tubulointerstitial nephritis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tubulointerstitial-nephritis" } ], "related": [ { "slug": "adamts9", "symbol": "ADAMTS9", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9", "shared": 1, "url": "https://dantelabs.com/de/genes/adamts9" }, { "slug": "anks6", "symbol": "ANKS6", "name": "ankyrin repeat and sterile alpha motif domain containing 6", "shared": 1, "url": "https://dantelabs.com/de/genes/anks6" }, { "slug": "cep164", "symbol": "CEP164", "name": "centrosomal protein 164", "shared": 1, "url": "https://dantelabs.com/de/genes/cep164" }, { "slug": "dcdc2", "symbol": "DCDC2", "name": "doublecortin domain containing 2", "shared": 1, "url": "https://dantelabs.com/de/genes/dcdc2" }, { "slug": "glis2", "symbol": "GLIS2", "name": "GLIS family zinc finger 2", "shared": 1, "url": "https://dantelabs.com/de/genes/glis2" }, { "slug": "invs", "symbol": "INVS", "name": "inversin", "shared": 1, "url": "https://dantelabs.com/de/genes/invs" }, { "slug": "mapkbp1", "symbol": "MAPKBP1", "name": "mitogen-activated protein kinase binding protein 1", "shared": 1, "url": "https://dantelabs.com/de/genes/mapkbp1" }, { "slug": "nek8", "symbol": "NEK8", "name": "NIMA related kinase 8", "shared": 1, "url": "https://dantelabs.com/de/genes/nek8" }, { "slug": "nphp1", "symbol": "NPHP1", "name": "nephrocystin 1", "shared": 1, "url": "https://dantelabs.com/de/genes/nphp1" }, { "slug": "nphp3", "symbol": "NPHP3", "name": "nephrocystin 3", "shared": 1, "url": "https://dantelabs.com/de/genes/nphp3" }, { "slug": "nphp4", "symbol": "NPHP4", "name": "nephrocystin 4", "shared": 1, "url": "https://dantelabs.com/de/genes/nphp4" }, { "slug": "tmem67", "symbol": "TMEM67", "name": "transmembrane protein 67", "shared": 1, "url": "https://dantelabs.com/de/genes/tmem67" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }