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"slug": "st6galnac6" }, { "symbol": "ST6GALNAC4", "ensemblId": "ENSG00000136840", "biotype": "protein_coding", "start": 127906919, "end": 127917057, "strand": "-", "slug": "st6galnac4" }, { "symbol": "PIP5KL1", "ensemblId": "ENSG00000167103", "biotype": "protein_coding", "start": 127920881, "end": 127930823, "strand": "-", "slug": "pip5kl1" }, { "symbol": "DPM2", "ensemblId": "ENSG00000136908", "biotype": "protein_coding", "start": 127935090, "end": 127937879, "strand": "-", "slug": "dpm2" }, { "symbol": "EEIG1", "ensemblId": "ENSG00000167106", "biotype": "protein_coding", "start": 127939491, "end": 127981075, "strand": "-", "slug": "eeig1" } ], "truncated": false }, "reports": [ { "slug": "charcot-marie-tooth-disease-type-1", "name": "Charcot-Marie-Tooth-tauti", "diseases": [ { "mondoId": "MONDO:0015626", "name": "Charcot-Marie-Tooth -tauti", "genes": 62, "inheritance": null, "description": "Ryhmä perinnöllisiä ääreishermostosairauksia, jotka aiheuttavat etenevää heikkoutta ja distaalisten lihasten surkastumista sekä tuntohäiriöitä, pääasiassa jaloissa ja käsissä.", "management": "Geneettinen neuvonta, alatyyppikohtainen seuranta, fysioterapia, ortoosit, neurotoksisten lääkkeiden välttäminen, geenikohtaiset kliiniset tutkimukset ja siihen liittyvien piirteiden seuranta", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/fi/conditions/charcot-marie-tooth-disease-type-1" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "axonal-degeneration", "name": "Axonal degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/axonal-degeneration" }, { "slug": "axonal-degeneration-regeneration", "name": "Axonal degeneration/regeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/axonal-degeneration-regeneration" }, { "slug": "decreased-motor-nerve-conduction-velocity", "name": "Decreased motor nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "hammertoe", "name": "Hammertoe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hammertoe" }, { "slug": "steppage-gait", "name": "High stepping", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/steppage-gait" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/fasciculations" }, { "slug": "peripheral-axonal-degeneration", "name": "Peripheral axonal degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/peripheral-axonal-degeneration" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/aars1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/aifm1" }, { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/atp1a1" }, { "slug": "cadm3", "symbol": "CADM3", "name": "cell adhesion molecule 3", "shared": 1, "url": "https://dantelabs.com/fi/genes/cadm3" }, { "slug": "cox6a1", "symbol": "COX6A1", "name": "cytochrome c oxidase subunit 6A1", "shared": 1, "url": "https://dantelabs.com/fi/genes/cox6a1" }, { "slug": "dhtkd1", "symbol": "DHTKD1", "name": "dehydrogenase E1 and transketolase domain containing 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/dhtkd1" }, { "slug": "dhx9", "symbol": "DHX9", "name": "DExH-box helicase 9", "shared": 1, "url": "https://dantelabs.com/fi/genes/dhx9" }, { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/dnm2" }, { "slug": "drp2", "symbol": "DRP2", "name": "dystrophin related protein 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/drp2" }, { "slug": "dync1h1", "symbol": "DYNC1H1", "name": "dynein cytoplasmic 1 heavy chain 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/dync1h1" }, { "slug": "egr2", "symbol": "EGR2", "name": "early growth response 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/egr2" }, { "slug": "fbln5", "symbol": "FBLN5", "name": "fibulin 5", "shared": 1, "url": "https://dantelabs.com/fi/genes/fbln5" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }