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"slug": "ftsj3" }, { "symbol": "PSMC5", "ensemblId": "ENSG00000087191", "biotype": "protein_coding", "start": 63827082, "end": 63832244, "strand": "+", "slug": "psmc5" }, { "symbol": "SMARCD2", "ensemblId": "ENSG00000108604", "biotype": "protein_coding", "start": 63832078, "end": 63843065, "strand": "-", "slug": "smarcd2" }, { "symbol": "CSH2", "ensemblId": "ENSG00000213218", "biotype": "protein_coding", "start": 63872007, "end": 63873769, "strand": "-", "slug": "csh2" }, { "symbol": "GH2", "ensemblId": "ENSG00000136487", "biotype": "protein_coding", "start": 63880205, "end": 63881970, "strand": "-", "slug": "gh2" }, { "symbol": "CSH1", "ensemblId": "ENSG00000136488", "biotype": "protein_coding", "start": 63894906, "end": 63896667, "strand": "-", "slug": "csh1" }, { "symbol": "CSHL1", "ensemblId": "ENSG00000204414", "biotype": "protein_coding", "start": 63909596, "end": 63911348, "strand": "-", "slug": "cshl1" }, { "symbol": "GH1", "ensemblId": "ENSG00000259384", "biotype": "protein_coding", "start": 63917200, "end": 63918839, "strand": "-", "slug": "gh1" }, { "symbol": "", "ensemblId": "ENSG00000285947", "biotype": "protein_coding", "start": 63917203, "end": 63931385, "strand": "-" }, { "symbol": "CD79B", "ensemblId": "ENSG00000007312", "biotype": "protein_coding", "start": 63928738, "end": 63932629, "strand": "-", "slug": "cd79b" }, { "symbol": "SCN4A", "ensemblId": "ENSG00000007314", "biotype": "protein_coding", "start": 63938554, "end": 63972918, "strand": "-", "slug": "scn4a" } ], "truncated": false }, "reports": [ { "slug": "renal-tubular-dysgenesis", "name": "Renale tubuläre Dysgenesie", "diseases": [ { "mondoId": "MONDO:0017609", "name": "Renale tubuläre Dysgenesie", "genes": 4, "inheritance": "autosomal-recessive", "description": "Eine rezessive Störung des Renin-Angiotensin-Systems, verursacht durch Varianten in REN, AGT, ACE oder AGTR1. Sie führt zu fehlender Urinproduktion vor der Geburt und verläuft beim Neugeborenen in der Regel tödlich.", "management": "Der Trägerstatus kann Paaren bei der Familienplanung helfen.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/de/conditions/renal-tubular-dysgenesis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "anuria", "name": "Absent urine output", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/anuria" }, { "slug": "hypotension", "name": "Low blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/hypotension" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "pulmonary-hypoplasia", "name": "Poorly developed lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pulmonary-hypoplasia" }, { "slug": "potter-facies", "name": "Potter facies", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/potter-facies" }, { "slug": "renotubular-dysgenesis", "name": "Renotubular dysgenesis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renotubular-dysgenesis" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "abnormality-of-the-urinary-system", "name": "Urinary tract abnormalities", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system" }, { "slug": "widely-patent-fontanelles-and-sutures", "name": "Widely patent fontanelles and sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/widely-patent-fontanelles-and-sutures" } ], "related": [ { "slug": "agt", "symbol": "AGT", "name": "angiotensinogen", "shared": 1, "url": "https://dantelabs.com/de/genes/agt" }, { "slug": "agtr1", "symbol": "AGTR1", "name": "angiotensin II receptor type 1", "shared": 1, "url": "https://dantelabs.com/de/genes/agtr1" }, { "slug": "ren", "symbol": "REN", "name": "renin", "shared": 1, "url": "https://dantelabs.com/de/genes/ren" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }