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"symbol": "APC2", "ensemblId": "ENSG00000115266", "biotype": "protein_coding", "start": 1446302, "end": 1473244, "strand": "+", "slug": "apc2" }, { "symbol": "C19orf25", "ensemblId": "ENSG00000119559", "biotype": "protein_coding", "start": 1461143, "end": 1479565, "strand": "-", "slug": "c19orf25" }, { "symbol": "PCSK4", "ensemblId": "ENSG00000115257", "biotype": "protein_coding", "start": 1481428, "end": 1490752, "strand": "-", "slug": "pcsk4" }, { "symbol": "REEP6", "ensemblId": "ENSG00000115255", "biotype": "protein_coding", "start": 1491016, "end": 1497928, "strand": "+", "slug": "reep6" }, { "symbol": "ADAMTSL5", "ensemblId": "ENSG00000185761", "biotype": "protein_coding", "start": 1503045, "end": 1513604, "strand": "-", "slug": "adamtsl5" }, { "symbol": "PLK5", "ensemblId": "ENSG00000185988", "biotype": "protein_coding", "start": 1507978, "end": 1536046, "strand": "+", "slug": "plk5" }, { "symbol": "MEX3D", "ensemblId": "ENSG00000181588", "biotype": "protein_coding", "start": 1554672, "end": 1568352, "strand": "-", "slug": "mex3d" }, { "symbol": "MBD3", "ensemblId": "ENSG00000071655", "biotype": "protein_coding", "start": 1573596, "end": 1592911, "strand": "-", "slug": "mbd3" }, { "symbol": "", "ensemblId": "ENSG00000267059", "biotype": "protein_coding", "start": 1578339, "end": 1605445, "strand": "-" }, { "symbol": "UQCR11", "ensemblId": "ENSG00000127540", "biotype": "protein_coding", "start": 1593987, "end": 1605500, "strand": "-", "slug": "uqcr11" }, { "symbol": "TCF3", "ensemblId": "ENSG00000071564", "biotype": "protein_coding", "start": 1609291, "end": 1652911, "strand": "-", "slug": "tcf3" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primarna mitochondrinė liga", "diseases": [ { "mondoId": "MONDO:0000732", "name": "Kombinuotas oksidacinio fosforilinimo nepakankamumas", "genes": 48, "inheritance": null, "description": "Ligos, dažniausiai sukeliamos branduolio genų, dalyvaujančių mitochondrijų baltymų gamyboje. Jos vienu metu sumažina kelis kvėpavimo grandinės kompleksus ir dažnai vaikystėje sukelia sunkią daugiasistemę ligą.", "management": "Žinojimas gali nutraukti diagnozės paieškas ir padėti stebėti bei teikti palaikomąją priežiūrą.", "evidence": { "gencc": [ "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0000066", "name": "Mitochondrijų kvėpavimo grandinės kompleksų nepakankamumas", "genes": 61, "inheritance": null, "description": "Izoliuotas I, II, III, IV ar V komplekso nepakankamumas, kurį sukelia branduolio ar mitochondrijų genų variantai. Jis gali paveikti smegenis, raumenis, širdį, kepenis ir kitus daug energijos naudojančius organus.", "management": "Žinojimas gali nutraukti diagnozės paieškas ir padėti stebėti pažeistus organus bei vengti vaistų, toksiškų mitochondrijoms.", "evidence": { "gencc": [ "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "3-methylglutaconic-aciduria", "name": "3-Methylglutaconic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/3-methylglutaconic-aciduria" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "gait-imbalance", "name": "Abnormality of balance", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-imbalance" }, { "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": "ankle-flexion-contracture", "name": "Ankle flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-flexion-contracture" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "rhabdomyolysis", "name": "Breakdown of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rhabdomyolysis" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "hypogonadism", "name": "Decreased activity of gonads", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypogonadism" }, { "slug": "decreased-activity-of-mitochondrial-atp-synthase-complex", "name": "Decreased activity of mitochondrial ATP synthase complex", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-atp-synthase-complex" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "elevated-serum-anion-gap", "name": "Elevated serum anion gap", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-serum-anion-gap" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "hyperammonemia", "name": "High blood ammonia levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperammonemia" }, { "slug": "hyperalaninemia", "name": "Increased blood alanine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperalaninemia" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "ketoacidosis", "name": "Ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ketoacidosis" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "neurodevelopmental-delay", "name": "Neurodevelopmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neurodevelopmental-delay" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "tetraplegia", "name": "Paralysis of all four limbs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tetraplegia" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "renal-hypoplasia", "name": "Small kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-hypoplasia" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" } ], "related": [ { "slug": "atp5f1a", "symbol": "ATP5F1A", "name": "ATP synthase F1 subunit alpha", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp5f1a" }, { "slug": "atp5f1e", "symbol": "ATP5F1E", "name": "ATP synthase F1 subunit epsilon", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp5f1e" }, { "slug": "tmem70", "symbol": "TMEM70", "name": "transmembrane protein 70", "shared": 2, "url": "https://dantelabs.com/lt/genes/tmem70" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/lt/genes/aars2" }, { "slug": "acad9", "symbol": "ACAD9", "name": "acyl-CoA dehydrogenase family member 9", "shared": 1, "url": "https://dantelabs.com/lt/genes/acad9" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/aifm1" }, { "slug": "atp5po", "symbol": "ATP5PO", "name": "ATP synthase peripheral stalk subunit OSCP", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp5po" }, { "slug": "bcs1l", "symbol": "BCS1L", "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone", "shared": 1, "url": "https://dantelabs.com/lt/genes/bcs1l" }, { "slug": "c1qbp", "symbol": "C1QBP", "name": "complement C1q binding protein", "shared": 1, "url": "https://dantelabs.com/lt/genes/c1qbp" }, { "slug": "c2orf69", "symbol": "C2orf69", "name": "chromosome 2 open reading frame 69", "shared": 1, "url": "https://dantelabs.com/lt/genes/c2orf69" }, { "slug": "cars2", "symbol": "CARS2", "name": "cysteinyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/lt/genes/cars2" }, { "slug": "coa6", "symbol": "COA6", "name": "cytochrome c oxidase assembly factor 6", "shared": 1, "url": "https://dantelabs.com/lt/genes/coa6" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }