{ "url": "https://dantelabs.com/et/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": "Pärilikud sensoorsed ja autonoomsed neuropaatiad (sh familiaarne düsautonoomia)", "diseases": [ { "mondoId": "MONDO:0015364", "name": "Pärilik sensoorne ja autonoomne neuropaatia", "genes": 21, "inheritance": null, "description": "Neuropaatiate rühm, sh familiaarne düsautonoomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) ja kaasasündinud valutundlikkuse puudumine (NTRK1, SCN9A, PRDM12). Enamik neist on retsessiivse pärilikkusega, HSAN1 on dominantne.", "management": "Kaitse märkamatute vigastuste, põletuste ja infektsioonide eest, autonoomsete sümptomite juhtimine ning sugulaste kandjatestimine (familiaarne düsautonoomia kuulub aškenazi juudi päritoluga inimeste kandjaskriiningusse).", "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/et/conditions/hereditary-sensory-and-autonomic-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": 1, "url": "https://dantelabs.com/et/genes/aifm1" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/et/genes/atl1" }, { "slug": "atl3", "symbol": "ATL3", "name": "atlastin GTPase 3", "shared": 1, "url": "https://dantelabs.com/et/genes/atl3" }, { "slug": "clcf1", "symbol": "CLCF1", "name": "cardiotrophin like cytokine factor 1", "shared": 1, "url": "https://dantelabs.com/et/genes/clcf1" }, { "slug": "crlf1", "symbol": "CRLF1", "name": "cytokine receptor like factor 1", "shared": 1, "url": "https://dantelabs.com/et/genes/crlf1" }, { "slug": "dnmt1", "symbol": "DNMT1", "name": "DNA methyltransferase 1", "shared": 1, "url": "https://dantelabs.com/et/genes/dnmt1" }, { "slug": "dst", "symbol": "DST", "name": "dystonin", "shared": 1, "url": "https://dantelabs.com/et/genes/dst" }, { "slug": "elp1", "symbol": "ELP1", "name": "elongator acetyltransferase complex subunit 1", "shared": 1, "url": "https://dantelabs.com/et/genes/elp1" }, { "slug": "kif1a", "symbol": "KIF1A", "name": "kinesin family member 1A", "shared": 1, "url": "https://dantelabs.com/et/genes/kif1a" }, { "slug": "klhl7", "symbol": "KLHL7", "name": "kelch like family member 7", "shared": 1, "url": "https://dantelabs.com/et/genes/klhl7" }, { "slug": "ngf", "symbol": "NGF", "name": "nerve growth factor", "shared": 1, "url": "https://dantelabs.com/et/genes/ngf" }, { "slug": "ntrk1", "symbol": "NTRK1", "name": "neurotrophic receptor tyrosine kinase 1", "shared": 1, "url": "https://dantelabs.com/et/genes/ntrk1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }