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"slug": "gage12d" }, { "symbol": "GAGE12E", "ensemblId": "ENSG00000216649", "biotype": "protein_coding", "start": 49551289, "end": 49558645, "strand": "+", "slug": "gage12e" }, { "symbol": "GAGE12F", "ensemblId": "ENSG00000236362", "biotype": "protein_coding", "start": 49560842, "end": 49568209, "strand": "+", "slug": "gage12f" }, { "symbol": "GAGE12G", "ensemblId": "ENSG00000215269", "biotype": "protein_coding", "start": 49570400, "end": 49577757, "strand": "+", "slug": "gage12g" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsy (Full Panel)", "diseases": [ { "mondoId": "MONDO:0100148", "name": "X-Linked Complex Neurodevelopmental Disorder", "genes": 25, "inheritance": null, "description": "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.", "management": null, "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/epilepsy-report" }, { "slug": "neurodegeneration-with-brain-iron-accumulation", "name": "Neurodegeneration with Brain Iron Accumulation (NBIA)", "diseases": [ { "mondoId": "MONDO:0018307", "name": "Neurodegeneration with Brain Iron Accumulation", "genes": 10, "inheritance": null, "description": "A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.", "management": "Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/neurodegeneration-with-brain-iron-accumulation" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-autonomic-nervous-system-physiology", "name": "Abnormal autonomic nervous system physiology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology" }, { "slug": "abnormal-postural-reflex", "name": "Abnormal postural reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-postural-reflex" }, { "slug": "abnormal-skin-morphology", "name": "Abnormal skin structure", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-skin-morphology" }, { "slug": "abnormality-of-eye-movement", "name": "Abnormality of eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-eye-movement" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "akinesia", "name": "Akinesia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/akinesia" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "frontal-release-signs", "name": "Frontal release signs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frontal-release-signs" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hypsarrhythmia", "name": "Hypsarrhythmia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypsarrhythmia" }, { "slug": "infantile-spasms", "name": "Infantile spasms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/infantile-spasms" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "iron-accumulation-in-brain", "name": "Iron accumulation in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/iron-accumulation-in-brain" }, { "slug": "iron-accumulation-in-substantia-nigra", "name": "Iron accumulation in substantia nigra", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/iron-accumulation-in-substantia-nigra" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "neurodegeneration", "name": "Ongoing loss of nerve cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/neurodegeneration" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "progressive-encephalopathy", "name": "Progressive brain disease", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-encephalopathy" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "spastic-paraparesis", "name": "Spastic paraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-paraparesis" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" } ], "related": [ { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/hu/genes/arhgef9" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/hu/genes/arx" }, { "slug": "atp13a2", "symbol": "ATP13A2", "name": "ATPase cation transporting 13A2", "shared": 1, "url": "https://dantelabs.com/hu/genes/atp13a2" }, { "slug": "c19orf12", "symbol": "C19orf12", "name": "chromosome 19 open reading frame 12", "shared": 1, "url": "https://dantelabs.com/hu/genes/c19orf12" }, { "slug": "clcn4", "symbol": "CLCN4", "name": "Cl-/H+ antiporter 4", "shared": 1, "url": "https://dantelabs.com/hu/genes/clcn4" }, { "slug": "cnksr2", "symbol": "CNKSR2", "name": "connector enhancer of kinase suppressor of Ras 2", "shared": 1, "url": "https://dantelabs.com/hu/genes/cnksr2" }, { "slug": "coasy", "symbol": "COASY", "name": "Coenzyme A synthase", "shared": 1, "url": "https://dantelabs.com/hu/genes/coasy" }, { "slug": "cp", "symbol": "CP", "name": "ceruloplasmin", "shared": 1, "url": "https://dantelabs.com/hu/genes/cp" }, { "slug": "dcaf17", "symbol": "DCAF17", "name": "DDB1 and CUL4 associated factor 17", "shared": 1, "url": "https://dantelabs.com/hu/genes/dcaf17" }, { "slug": "frmpd4", "symbol": "FRMPD4", "name": "FERM and PDZ domain containing 4", "shared": 1, "url": "https://dantelabs.com/hu/genes/frmpd4" }, { "slug": "fth1", "symbol": "FTH1", "name": "ferritin heavy chain 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/fth1" }, { "slug": "ftl", "symbol": "FTL", "name": "ferritin light chain", "shared": 1, "url": "https://dantelabs.com/hu/genes/ftl" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }