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"strand": "-", "slug": "cacna2d2" }, { "symbol": "C3orf18", "ensemblId": "ENSG00000088543", "biotype": "protein_coding", "start": 50556409, "end": 50573568, "strand": "-", "slug": "c3orf18" }, { "symbol": "HEMK1", "ensemblId": "ENSG00000114735", "biotype": "protein_coding", "start": 50567895, "end": 50596168, "strand": "+", "slug": "hemk1" }, { "symbol": "CISH", "ensemblId": "ENSG00000114737", "biotype": "protein_coding", "start": 50606456, "end": 50611984, "strand": "-", "slug": "cish" }, { "symbol": "MAPKAPK3", "ensemblId": "ENSG00000114738", "biotype": "protein_coding", "start": 50611487, "end": 50651017, "strand": "+", "slug": "mapkapk3" }, { "symbol": "DOCK3", "ensemblId": "ENSG00000088538", "biotype": "protein_coding", "start": 50674875, "end": 51384198, "strand": "+", "slug": "dock3" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsie (Komplettpanel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsie", "genes": 171, 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impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "deja-vu-aura", "name": "Deja vu", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/deja-vu-aura" }, { "slug": "eeg-with-focal-epileptiform-discharges", "name": "EEG with focal epileptiform discharges", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/eeg-with-focal-epileptiform-discharges" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "flushing", "name": "Flushing", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flushing" }, { "slug": "focal-aware-seizure", "name": "Focal aware seizure", "systems": [ 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"https://dantelabs.com/traits/auditory-hallucination" }, { "slug": "hemimegalencephaly", "name": "Hemimegalencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hemimegalencephaly" }, { "slug": "hypsarrhythmia", "name": "Hypsarrhythmia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypsarrhythmia" }, { "slug": "infantile-spasms", "name": "Infantile spasms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/infantile-spasms" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "interictal-eeg-abnormality", "name": "Interictal EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/interictal-eeg-abnormality" }, { "slug": "expressive-aphasia", "name": "Loss of expressive speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/expressive-aphasia" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "multifocal-epileptiform-discharges", "name": "Multifocal epileptiform discharges", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multifocal-epileptiform-discharges" }, { "slug": "nocturnal-seizures", "name": "Nocturnal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nocturnal-seizures" }, { "slug": "pain", "name": "Pain", "systems": [ 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"abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-hallucination" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/de/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/de/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/de/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/de/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/de/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/de/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/de/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/de/genes/arv1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/de/genes/arx" }, { "slug": "atp1a2", "symbol": "ATP1A2", "name": "ATPase Na+/K+ transporting subunit alpha 2", "shared": 1, "url": "https://dantelabs.com/de/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/de/genes/atp1a3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }