{ "url": "https://dantelabs.com/pt/genes/nprl3", "gene": { "slug": "nprl3", "symbol": "NPRL3", "name": "NPR3 like, GATOR1 complex subunit", "hgnc": "HGNC:14124", "summary": null, "location": "16p13.3", "locusType": "gene with protein product", "aliases": [ "CGTHBA", "RMD11", "NPR3", "MARE", "HS-40" ], "previousSymbols": [ "C16orf35" ], "ensemblId": "ENSG00000103148", "entrezId": 8131, "omim": [ "600928" ], "uniprot": [ "Q12980" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 85386, "end": 138673, "strand": "-", "ensemblTranscript": "ENST00000611875.5", "refseqTranscript": "NM_001077350.3", "ensemblProtein": "ENSP00000478273.1", "refseqProtein": "NP_001070818.1", "exons": [ { "start": 85386, "end": 86870 }, { "start": 88698, "end": 88890 }, { "start": 89713, "end": 89902 }, { "start": 92596, "end": 92725 }, { "start": 93219, "end": 93325 }, { "start": 98145, "end": 98301 }, { "start": 100372, "end": 100509 }, { "start": 110525, "end": 110606 }, { "start": 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"ENSG00000103202", "biotype": "protein_coding", "start": 396725, "end": 410367, "strand": "+", "slug": "nme4" }, { "symbol": "DECR2", "ensemblId": "ENSG00000242612", "biotype": "protein_coding", "start": 401834, "end": 412492, "strand": "+", "slug": "decr2" }, { "symbol": "RAB11FIP3", "ensemblId": "ENSG00000090565", "biotype": "protein_coding", "start": 425593, "end": 523012, "strand": "+", "slug": "rab11fip3" }, { "symbol": "CAPN15", "ensemblId": "ENSG00000103326", "biotype": "protein_coding", "start": 527698, "end": 554636, "strand": "+", "slug": "capn15" }, { "symbol": "PRR35", "ensemblId": "ENSG00000161992", "biotype": "protein_coding", "start": 559688, "end": 565532, "strand": "+", "slug": "prr35" }, { "symbol": "PIGQ", "ensemblId": "ENSG00000007541", "biotype": "protein_coding", "start": 566995, "end": 584121, "strand": "+", "slug": "pigq" }, { "symbol": "NHLRC4", "ensemblId": "ENSG00000257108", "biotype": "protein_coding", "start": 567000, "end": 569495, "strand": "+", "slug": "nhlrc4" }, { "symbol": "RAB40C", "ensemblId": "ENSG00000197562", "biotype": "protein_coding", "start": 589007, "end": 629348, "strand": "+", "slug": "rab40c" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsia (Painel Completo)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsia", "genes": 171, "inheritance": null, "description": "Uma perturbação cerebral caracterizada por episódios de descarga neuronal anormalmente aumentada, que resultam em episódios transitórios de disfunção neurológica sensorial ou motora, ou de disfunção psíquica. Estes episódios podem ou não estar associados a perda de consciência ou convulsões.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pt/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "cognitive-impairment", "name": "Cognitive 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": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-aware-seizure" }, { "slug": "focal-cortical-dysplasia", "name": "Focal cortical dysplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-cortical-dysplasia" }, { "slug": "focal-cortical-dysplasia-type-iia", "name": "Focal cortical dysplasia type IIa", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-cortical-dysplasia-type-iia" }, { "slug": "focal-impaired-awareness-seizure", "name": "Focal impaired awareness seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "auditory-hallucination", "name": "Hallucinations of sound", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "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": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pain" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pallor" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "slug": "simple-febrile-seizure", "name": "Simple febrile seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/simple-febrile-seizure" }, { "slug": "visual-hallucination", "name": "Visual hallucinations", "systems": [ "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/pt/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/pt/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/pt/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/pt/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/pt/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/pt/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/pt/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/pt/genes/arv1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/pt/genes/arx" }, { "slug": "atp1a2", "symbol": "ATP1A2", "name": "ATPase Na+/K+ transporting subunit alpha 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/pt/genes/atp1a3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }