{ "url": "https://dantelabs.com/ro/genes/clcn2", "gene": { "slug": "clcn2", "symbol": "CLCN2", "name": "chloride voltage-gated channel 2", "hgnc": "HGNC:2020", "summary": null, "location": "3q27.1", "locusType": "gene with protein product", "aliases": [ "CLC2", "EJM6", "ClC-2" ], "previousSymbols": [], "ensemblId": "ENSG00000114859", "entrezId": 1181, "omim": [ "600570" ], "uniprot": [ "P51788" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 184346185, "end": 184361605, "strand": "-", "ensemblTranscript": "ENST00000265593.9", "refseqTranscript": "NM_004366.6", "ensemblProtein": "ENSP00000265593.4", "refseqProtein": "NP_004357.3", "exons": [ { "start": 184346185, "end": 184346800 }, { "start": 184346935, "end": 184347021 }, { "start": 184352013, "end": 184352117 }, { "start": 184352293, "end": 184352331 }, { "start": 184352443, "end": 184352496 }, { "start": 184352737, "end": 184352810 }, { "start": 184353033, "end": 184353147 }, { "start": 184353250, "end": 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"protein_coding", "start": 183815568, "end": 183884889, "strand": "-" }, { "symbol": "PARL", "ensemblId": "ENSG00000175193", "biotype": "protein_coding", "start": 183826489, "end": 183884933, "strand": "-", "slug": "parl" }, { "symbol": "ABCC5", "ensemblId": "ENSG00000114770", "biotype": "protein_coding", "start": 183919934, "end": 184018307, "strand": "-", "slug": "abcc5" }, { "symbol": "HTR3D", "ensemblId": "ENSG00000186090", "biotype": "protein_coding", "start": 184031544, "end": 184039369, "strand": "+", "slug": "htr3d" }, { "symbol": "HTR3C", "ensemblId": "ENSG00000178084", "biotype": "protein_coding", "start": 184053047, "end": 184060673, "strand": "+", "slug": "htr3c" }, { "symbol": "HTR3E", "ensemblId": "ENSG00000186038", "biotype": "protein_coding", "start": 184097064, "end": 184106995, "strand": "+", "slug": "htr3e" }, { "symbol": "EIF2B5", "ensemblId": "ENSG00000145191", "biotype": "protein_coding", "start": 184134986, "end": 184146127, "strand": "+", "slug": "eif2b5" }, { "symbol": "DVL3", "ensemblId": "ENSG00000161202", "biotype": "protein_coding", "start": 184155159, "end": 184173616, "strand": "+", "slug": "dvl3" }, { "symbol": "AP2M1", "ensemblId": "ENSG00000161203", "biotype": "protein_coding", "start": 184174689, "end": 184184214, "strand": "+", "slug": "ap2m1" }, { "symbol": "ABCF3", "ensemblId": "ENSG00000161204", "biotype": "protein_coding", "start": 184186095, "end": 184194451, "strand": "+", "slug": "abcf3" }, { "symbol": "VWA5B2", "ensemblId": "ENSG00000145198", "biotype": "protein_coding", "start": 184228996, "end": 184242342, "strand": "+", "slug": "vwa5b2" }, { "symbol": "ALG3", "ensemblId": "ENSG00000214160", "biotype": "protein_coding", "start": 184242301, "end": 184249571, "strand": "-", "slug": "alg3" }, { "symbol": "EEF1AKMT4", "ensemblId": "ENSG00000284753", "biotype": "protein_coding", "start": 184249609, "end": 184258759, "strand": "+", "slug": "eef1akmt4" }, { "symbol": "EEF1AKMT4-ECE2", "ensemblId": "ENSG00000284917", "biotype": "protein_coding", "start": 184249695, "end": 184293031, "strand": "+", "slug": "eef1akmt4-ece2" }, { "symbol": "CAMK2N2", "ensemblId": "ENSG00000163888", "biotype": "protein_coding", "start": 184259213, "end": 184261602, "strand": "-", "slug": "camk2n2" }, { "symbol": "ECE2", "ensemblId": "ENSG00000145194", "biotype": "protein_coding", "start": 184275531, "end": 184293031, "strand": "+", "slug": "ece2" }, { "symbol": "PSMD2", "ensemblId": "ENSG00000175166", "biotype": "protein_coding", "start": 184299157, "end": 184309054, "strand": "+", "slug": "psmd2" }, { "symbol": "EIF4G1", "ensemblId": "ENSG00000114867", "biotype": "protein_coding", "start": 184314490, "end": 184335358, "strand": "+", "slug": "eif4g1" }, { "symbol": "FAM131A", "ensemblId": "ENSG00000175182", "biotype": "protein_coding", "start": 184335916, "end": 184348421, "strand": "+", "slug": "fam131a" }, { "symbol": "POLR2H", "ensemblId": "ENSG00000163882", "biotype": "protein_coding", "start": 184360856, "end": 184368596, "strand": "+", "slug": "polr2h" }, { "symbol": "THPO", "ensemblId": "ENSG00000090534", "biotype": "protein_coding", "start": 184367389, "end": 184381968, "strand": "-", "slug": "thpo" }, { "symbol": "CHRD", "ensemblId": "ENSG00000090539", "biotype": "protein_coding", "start": 184379381, "end": 184390736, "strand": "+", "slug": "chrd" }, { "symbol": "EPHB3", "ensemblId": "ENSG00000182580", "biotype": "protein_coding", "start": 184561751, "end": 184582408, "strand": "+", "slug": "ephb3" }, { "symbol": "MAGEF1", "ensemblId": "ENSG00000177383", "biotype": "protein_coding", "start": 184708749, "end": 184712073, "strand": "-", "slug": "magef1" }, { "symbol": "VPS8", "ensemblId": "ENSG00000156931", "biotype": "protein_coding", "start": 184812113, "end": 185054009, "strand": "+", "slug": "vps8" } ], "truncated": false }, "reports": [ { "slug": "leukodystrophy", "name": "Alte leucodistrofii ereditare", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leucodistrofie (alte tipuri și tipuri nespecificate)", "genes": 80, "inheritance": null, "description": "Afecțiuni ereditare care deteriorează sau împiedică formarea normală a mielinei, adică a substanței albe a creierului și a măduvei spinării. Tipurile diferite urmează moștenire autozomal recesivă, autozomal dominantă sau legată de cromozomul X, în funcție de genele implicate.", "management": "Cunoașterea cauzei genetice specifice poate pune capăt unei căutări de diagnostic, poate ghida îngrijirea de susținere și monitorizarea, poate arăta dacă există un tratament specific și poate permite testarea rudelor.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-renin-concentration", "name": "Abnormal circulating renin", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-renin-concentration" }, { "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-mouth", "name": "Abnormality of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-mouth" }, { "slug": "action-tremor", "name": "Action tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/action-tremor" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "intracranial-hemorrhage", "name": "Bleeding within the skull", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intracranial-hemorrhage" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "generalized-non-motor-absence-seizure", "name": "Brief seizures with staring spells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure" }, { "slug": "chorioretinal-atrophy", "name": "Chorioretinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chorioretinal-atrophy" }, { "slug": "choroidal-neovascularization", "name": "Choroidal neovascularization", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/choroidal-neovascularization" }, { "slug": "optic-neuropathy", "name": "Damaged optic nerve", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-neuropathy" }, { "slug": "dexamethasone-suppressible-primary-hyperaldosteronism", "name": "Dexamethasone-suppressible primary hyperaldosteronism", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/dexamethasone-suppressible-primary-hyperaldosteronism" }, { "slug": "eeg-with-polyspike-wave-complexes", "name": "EEG with polyspike wave complexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/eeg-with-polyspike-wave-complexes" }, { "slug": "increased-circulating-aldosterone-concentration", "name": "Elevated plasma aldosterone", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration" }, { "slug": "adrenal-hyperplasia", "name": "Enlarged adrenal glands", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/adrenal-hyperplasia" }, { "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years", "name": "Febrile seizure (within the age range of 3 months to 6 years)", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years" }, { "slug": "generalized-myoclonic-seizure", "name": "Generalized myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-onset-seizure" }, { "slug": "glucocortocoid-insensitive-primary-hyperaldosteronism", "name": "Glucocortocoid-insensitive primary hyperaldosteronism", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glucocortocoid-insensitive-primary-hyperaldosteronism" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "hypokalemia", "name": "Low blood potassium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypokalemia" }, { "slug": "metabolic-alkalosis", "name": "Metabolic alkalosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metabolic-alkalosis" }, { "slug": "bilateral-tonic-clonic-seizure-on-awakening", "name": "Morning generalized tonic-clonic seizures", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-on-awakening" }, { "slug": "morning-myoclonic-jerks", "name": "Morning myoclonic jerks", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/morning-myoclonic-jerks" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "nausea", "name": "Nausea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nausea" }, { "slug": "visual-field-defect", "name": "Partial loss of field of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-field-defect" }, { "slug": "photosensitive-tonic-clonic-seizure", "name": "Photosensitive tonic-clonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photosensitive-tonic-clonic-seizure" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "retinoschisis", "name": "Retinoschisis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinoschisis" }, { "slug": "tinnitus", "name": "Ringing in ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tinnitus" }, { "slug": "secretory-adrenocortical-adenoma", "name": "Secretory adrenocortical adenoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/secretory-adrenocortical-adenoma" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/ro/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/ro/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/ro/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/ro/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/ro/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/ro/genes/arsa" }, { "slug": "aspa", "symbol": "ASPA", "name": "aspartoacylase", "shared": 1, "url": "https://dantelabs.com/ro/genes/aspa" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/ro/genes/atp11a" }, { "slug": "cldn11", "symbol": "CLDN11", "name": "claudin 11", "shared": 1, "url": "https://dantelabs.com/ro/genes/cldn11" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }