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7903823, "end": 7914480, "strand": "+", "slug": "map2k7" }, { "symbol": "TGFBR3L", "ensemblId": "ENSG00000260001", "biotype": "protein_coding", "start": 7914760, "end": 7919097, "strand": "+", "slug": "tgfbr3l" }, { "symbol": "SNAPC2", "ensemblId": "ENSG00000104976", "biotype": "protein_coding", "start": 7920314, "end": 7923250, "strand": "+", "slug": "snapc2" }, { "symbol": "CTXN1", "ensemblId": "ENSG00000178531", "biotype": "protein_coding", "start": 7924491, "end": 7926174, "strand": "-", "slug": "ctxn1" }, { "symbol": "TIMM44", "ensemblId": "ENSG00000104980", "biotype": "protein_coding", "start": 7926715, "end": 7943773, "strand": "-", "slug": "timm44" }, { "symbol": "ELAVL1", "ensemblId": "ENSG00000066044", "biotype": "protein_coding", "start": 7958573, "end": 8006062, "strand": "-", "slug": "elavl1" }, { "symbol": "CCL25", "ensemblId": "ENSG00000131142", "biotype": "protein_coding", "start": 8052293, "end": 8062665, "strand": "+", "slug": "ccl25" }, { "symbol": "FBN3", "ensemblId": "ENSG00000142449", "biotype": "protein_coding", "start": 8065402, "end": 8149693, "strand": "-", "slug": "fbn3" } ], "truncated": false }, "reports": [ { "slug": "leigh-syndrome", "name": "Leighin oireyhtymä", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Leighin oireyhtymä", "genes": 69, "inheritance": null, "description": "Etenevä neurologinen sairaus, jolle ovat tunnusomaisia tietyt neuropatologiset piirteet, joissa aivorungon ja tyvitumakkeiden vauriot esiintyvät yhdessä.", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/fi/conditions/leigh-syndrome" }, { "slug": "primary-mitochondrial-disease", "name": "Primaarinen mitokondriosairaus", "diseases": [ { "mondoId": "MONDO:0000066", "name": "Mitokondrion hengitysketjun kompleksin puutos", "genes": 61, "inheritance": null, "description": "Kompleksien I, II, III, IV tai V yksittäinen puutos, jota aiheuttavat tumagenomin tai mitokondrion geenien variantit. Se voi vaikuttaa aivoihin, lihaksiin, sydämeen, maksaan ja muihin energiaa vaativiin elimiin.", "management": "Tieto voi lopettaa diagnoosin etsimisen ja ohjata sairastuneiden elinten seurantaa sekä mitokondrioille myrkyllisten lääkkeiden välttämistä.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fi/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "aminoaciduria", "name": "Abnormal urinary amino-acid findings", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aminoaciduria" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "bulbar-palsy", "name": "Bulbar palsy", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bulbar-palsy" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "clonus", "name": "Clonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clonus" }, { "slug": "decreased-activity-of-mitochondrial-complex-iv", "name": "Decreased activity of mitochondrial complex IV", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "intraventricular-hemorrhage", "name": "Intraventricular hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intraventricular-hemorrhage" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "neonatal-hypoglycemia", "name": "Low blood sugar in newborn", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-hypoglycemia" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prolonged-prothrombin-time", "name": "Prolonged prothrombin time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-prothrombin-time" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "vertical-nystagmus", "name": "Vertical nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vertical-nystagmus" }, { "slug": "visual-fixation-instability", "name": "Visual fixation instability", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-fixation-instability" } ], "related": [ { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 2, "url": "https://dantelabs.com/fi/genes/cox10" }, { "slug": "foxred1", "symbol": "FOXRED1", "name": "FAD dependent oxidoreductase domain containing 1", "shared": 2, "url": "https://dantelabs.com/fi/genes/foxred1" }, { "slug": "lrpprc", "symbol": "LRPPRC", "name": "leucine rich pentatricopeptide repeat containing", "shared": 2, "url": "https://dantelabs.com/fi/genes/lrpprc" }, { "slug": "ndufa1", "symbol": "NDUFA1", "name": "NADH:ubiquinone oxidoreductase subunit A1", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufa1" }, { "slug": "ndufa13", "symbol": "NDUFA13", "name": "NADH:ubiquinone oxidoreductase subunit A13", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufa13" }, { "slug": "ndufa2", "symbol": "NDUFA2", "name": "NADH:ubiquinone oxidoreductase subunit A2", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufa2" }, { "slug": "ndufa9", "symbol": "NDUFA9", "name": "NADH:ubiquinone oxidoreductase subunit A9", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufa9" }, { "slug": "ndufaf2", "symbol": "NDUFAF2", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufaf2" }, { "slug": "ndufaf5", "symbol": "NDUFAF5", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufaf5" }, { "slug": "ndufaf6", "symbol": "NDUFAF6", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufaf6" }, { "slug": "ndufaf8", "symbol": "NDUFAF8", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufaf8" }, { "slug": "ndufb8", "symbol": "NDUFB8", "name": "NADH:ubiquinone oxidoreductase subunit B8", "shared": 2, "url": "https://dantelabs.com/fi/genes/ndufb8" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }