{ "url": "https://dantelabs.com/fr/genes/scn11a", "gene": { "slug": "scn11a", "symbol": "SCN11A", "name": "sodium voltage-gated channel alpha subunit 11", "hgnc": "HGNC:10583", "summary": null, "location": "3p22.2", "locusType": "gene with protein product", "aliases": [ "Nav1.9", "NaN", "SNS-2" ], "previousSymbols": [ "SCN12A" ], "ensemblId": "ENSG00000168356", "entrezId": 11280, "omim": [ "604385" ], "uniprot": [ "Q9UI33" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 38845764, "end": 39051944, "strand": "-", "ensemblTranscript": "ENST00000302328.9", "refseqTranscript": "NM_001349253.2", "ensemblProtein": "ENSP00000307599.3", "refseqProtein": "NP_001336182.1", "exons": [ { "start": 38845764, "end": 38847742 }, { "start": 38850481, "end": 38850751 }, { "start": 38863195, "end": 38863299 }, { "start": 38867321, "end": 38867458 }, { "start": 38870691, "end": 38870744 }, { "start": 38871445, "end": 38871708 }, { "start": 38872193, "end": 38872294 }, { "start": 38879950, "end": 38880123 }, { "start": 38883233, "end": 38883387 }, { "start": 38885288, "end": 38885402 }, { "start": 38886125, "end": 38886238 }, { "start": 38894533, "end": 38894964 }, { "start": 38896845, "end": 38897225 }, { "start": 38899894, "end": 38900073 }, { "start": 38903865, "end": 38904103 }, { "start": 38905192, "end": 38905321 }, { "start": 38907949, "end": 38908122 }, { "start": 38908997, "end": 38909194 }, { "start": 38910066, "end": 38910207 }, { "start": 38919935, "end": 38920001 }, { "start": 38921076, "end": 38921255 }, { "start": 38925415, "end": 38925509 }, { "start": 38926803, "end": 38926931 }, { "start": 38945411, "end": 38945512 }, { "start": 38946789, "end": 38946907 }, { "start": 38950096, "end": 38950369 }, { "start": 38953629, "end": 38953759 }, { "start": 38960283, "end": 38960423 }, { "start": 39032380, "end": 39032503 }, { "start": 39051861, "end": 39051944 } ], "cds": { "start": 38846694, "end": 38950362 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 38887260, "end": 38992052, "strand": "-" }, "neighbourhood": { "release": "116", "start": 38448854, "end": 39448853, "genes": [ { "symbol": "ACVR2B", "ensemblId": "ENSG00000114739", "biotype": "protein_coding", "start": 38453843, "end": 38493142, "strand": "+", "slug": "acvr2b" }, { "symbol": "EXOG", "ensemblId": "ENSG00000157036", "biotype": "protein_coding", "start": 38496127, "end": 38542242, "strand": "+", "slug": "exog" }, { "symbol": "SCN5A", "ensemblId": "ENSG00000183873", "biotype": "protein_coding", "start": 38548057, "end": 38649743, "strand": "-", "slug": "scn5a" }, { "symbol": "SCN10A", "ensemblId": "ENSG00000185313", "biotype": "protein_coding", "start": 38696802, "end": 38816286, "strand": "-", "slug": "scn10a" }, { "symbol": "WDR48", "ensemblId": "ENSG00000114742", "biotype": "protein_coding", "start": 39051991, "end": 39096671, "strand": "+", "slug": "wdr48" }, { "symbol": "GORASP1", "ensemblId": "ENSG00000114745", "biotype": "protein_coding", "start": 39095222, "end": 39108369, "strand": "-", "slug": "gorasp1" }, { "symbol": "TTC21A", "ensemblId": "ENSG00000168026", "biotype": "protein_coding", "start": 39107194, "end": 39140973, "strand": "+", "slug": "ttc21a" }, { "symbol": "CSRNP1", "ensemblId": "ENSG00000144655", "biotype": "protein_coding", "start": 39141854, "end": 39154852, "strand": "-", "slug": "csrnp1" }, { "symbol": "XIRP1", "ensemblId": "ENSG00000168334", "biotype": "protein_coding", "start": 39183210, "end": 39192660, "strand": "-", "slug": "xirp1" }, { "symbol": "CX3CR1", "ensemblId": "ENSG00000168329", "biotype": "protein_coding", "start": 39263495, "end": 39281735, "strand": "-", "slug": "cx3cr1" }, { "symbol": "CCR8", "ensemblId": "ENSG00000179934", "biotype": "protein_coding", "start": 39329709, "end": 39336269, "strand": "+", "slug": "ccr8" }, { "symbol": "SLC25A38", "ensemblId": "ENSG00000144659", "biotype": "protein_coding", "start": 39383292, "end": 39397426, "strand": "+", "slug": "slc25a38" }, { "symbol": "RPSA", "ensemblId": "ENSG00000168028", "biotype": "protein_coding", "start": 39406709, "end": 39426255, "strand": "+", "slug": "rpsa" } ], "truncated": false }, "reports": [ { "slug": "hereditary-sensory-and-autonomic-neuropathies", "name": "Neuropathies sensitives et autonomes héréditaires (y compris la dysautonomie familiale)", "diseases": [ { "mondoId": "MONDO:0015364", "name": "Neuropathie sensitive et autonome héréditaire", "genes": 21, "inheritance": null, "description": "Un groupe de neuropathies, dont la dysautonomie familiale (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) et l'insensibilité congénitale à la douleur (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.", "management": "Protection contre les blessures, brûlures et infections non remarquées, prise en charge des symptômes autonomes, et test de porteur pour les apparentés (la dysautonomie familiale est incluse dans le dépistage de porteurs chez les personnes d'ascendance juive ashkénaze).", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/hereditary-sensory-and-autonomic-neuropathies" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Neuropathies périphériques héréditaires rares", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Neuropathie périphérique héréditaire", "genes": 233, "inheritance": null, "description": "Causée par des modifications dans l'un des nombreux gènes nécessaires au maintien en bon état des longues fibres nerveuses. Dans ce rapport, ces gènes comprennent IGHMBP2 et PLEKHG5, dont la transmission est récessive.", "management": "La kinésithérapie, les orthèses et l'ergothérapie aident à préserver la mobilité, avec une chirurgie des déformations du pied si nécessaire. Certaines formes nécessitent une surveillance respiratoire. Le conseil génétique oriente le dépistage familial selon le mode de transmission du gène concerné.", "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/fr/conditions/rare-hereditary-peripheral-neuropathies" } ], "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": "allodynia", "name": "Allodynia", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/allodynia" }, { "slug": "leukemia", "name": "Blood cancer", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leukemia" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "decreased-absent-ankle-reflexes", "name": "Decreased/absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-absent-ankle-reflexes" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "dysesthesia", "name": "Dysesthesia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysesthesia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "erythromelalgia", "name": "Erythromelalgia", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythromelalgia" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "pedal-edema", "name": "Fluid accumulation in lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pedal-edema" }, { "slug": "hypothermia", "name": "Hypothermia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothermia" }, { "slug": "vasculitis", "name": "Inflammation of blood vessel", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vasculitis" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "pain", "name": "Pain", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/pain" }, { "slug": "pain-insensitivity", "name": "Pain insensitivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pain-insensitivity" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "abnormality-of-thrombocytes", "name": "Platelet abnormalities", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-thrombocytes" }, { "slug": "poor-wound-healing", "name": "Poor wound healing", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/poor-wound-healing" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythema" } ], "related": [ { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/aifm1" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/atl1" }, { "slug": "atl3", "symbol": "ATL3", "name": "atlastin GTPase 3", "shared": 2, "url": "https://dantelabs.com/fr/genes/atl3" }, { "slug": "clcf1", "symbol": "CLCF1", "name": "cardiotrophin like cytokine factor 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/clcf1" }, { "slug": "crlf1", "symbol": "CRLF1", "name": "cytokine receptor like factor 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/crlf1" }, { "slug": "dnmt1", "symbol": "DNMT1", "name": "DNA methyltransferase 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/dnmt1" }, { "slug": "dst", "symbol": "DST", "name": "dystonin", "shared": 2, "url": "https://dantelabs.com/fr/genes/dst" }, { "slug": "elp1", "symbol": "ELP1", "name": "elongator acetyltransferase complex subunit 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/elp1" }, { "slug": "kif1a", "symbol": "KIF1A", "name": "kinesin family member 1A", "shared": 2, "url": "https://dantelabs.com/fr/genes/kif1a" }, { "slug": "klhl7", "symbol": "KLHL7", "name": "kelch like family member 7", "shared": 2, "url": "https://dantelabs.com/fr/genes/klhl7" }, { "slug": "ngf", "symbol": "NGF", "name": "nerve growth factor", "shared": 2, "url": "https://dantelabs.com/fr/genes/ngf" }, { "slug": "ntrk1", "symbol": "NTRK1", "name": "neurotrophic receptor tyrosine kinase 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/ntrk1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }