{ "url": "https://dantelabs.com/pl/genes/ndufa2", "gene": { "slug": "ndufa2", "symbol": "NDUFA2", "name": "NADH:ubiquinone oxidoreductase subunit A2", "hgnc": "HGNC:7685", "summary": null, "location": "5q31.3", "locusType": "gene with protein product", "aliases": [ "B8" ], "previousSymbols": [], "ensemblId": "ENSG00000131495", "entrezId": 4695, "omim": [ "602137" ], "uniprot": [ "O43678" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "5", "start": 140645285, "end": 140647630, "strand": "-", "ensemblTranscript": "ENST00000252102.9", "refseqTranscript": "NM_002488.5", "ensemblProtein": "ENSP00000252102.5", "refseqProtein": "NP_002479.1", "exons": [ { "start": 140645285, "end": 140645678 }, { "start": 140647256, "end": 140647362 }, { "start": 140647483, "end": 140647630 } ], "cds": { "start": 140645587, "end": 140647583 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "5", "start": 140018325, "end": 140027370, "strand": "-" }, "neighbourhood": { "release": 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"ENSG00000113119", "biotype": "protein_coding", "start": 140639396, "end": 140647730, "strand": "+", "slug": "tmco6" }, { "symbol": "IK", "ensemblId": "ENSG00000113141", "biotype": "protein_coding", "start": 140647058, "end": 140662480, "strand": "+", "slug": "ik" }, { "symbol": "WDR55", "ensemblId": "ENSG00000120314", "biotype": "protein_coding", "start": 140664476, "end": 140674124, "strand": "+", "slug": "wdr55" }, { "symbol": "DND1", "ensemblId": "ENSG00000256453", "biotype": "protein_coding", "start": 140670794, "end": 140673576, "strand": "-", "slug": "dnd1" }, { "symbol": "HARS1", "ensemblId": "ENSG00000170445", "biotype": "protein_coding", "start": 140673035, "end": 140691537, "strand": "-", "slug": "hars1" }, { "symbol": "HARS2", "ensemblId": "ENSG00000112855", "biotype": "protein_coding", "start": 140691422, "end": 140699315, "strand": "+", "slug": "hars2" }, { "symbol": "ZMAT2", "ensemblId": "ENSG00000146007", "biotype": "protein_coding", "start": 140698680, "end": 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"PCDHA7", "ensemblId": "ENSG00000204963", "biotype": "protein_coding", "start": 140834231, "end": 141012351, "strand": "+", "slug": "pcdha7" }, { "symbol": "PCDHA8", "ensemblId": "ENSG00000204962", "biotype": "protein_coding", "start": 140841185, "end": 141012351, "strand": "+", "slug": "pcdha8" }, { "symbol": "PCDHA9", "ensemblId": "ENSG00000204961", "biotype": "protein_coding", "start": 140847772, "end": 141012351, "strand": "+", "slug": "pcdha9" }, { "symbol": "PCDHA10", "ensemblId": "ENSG00000250120", "biotype": "protein_coding", "start": 140855883, "end": 141012351, "strand": "+", "slug": "pcdha10" }, { "symbol": "PCDHA11", "ensemblId": "ENSG00000249158", "biotype": "protein_coding", "start": 140868183, "end": 141012351, "strand": "+", "slug": "pcdha11" }, { "symbol": "PCDHA12", "ensemblId": "ENSG00000251664", "biotype": "protein_coding", "start": 140875256, "end": 141012351, "strand": "+", "slug": "pcdha12" }, { "symbol": "PCDHA13", "ensemblId": "ENSG00000239389", "biotype": "protein_coding", "start": 140882079, "end": 141012347, "strand": "+", "slug": "pcdha13" }, { "symbol": "PCDHAC1", "ensemblId": "ENSG00000248383", "biotype": "protein_coding", "start": 140926299, "end": 141012351, "strand": "+", "slug": "pcdhac1" }, { "symbol": "PCDHAC2", "ensemblId": "ENSG00000243232", "biotype": "protein_coding", "start": 140966466, "end": 141012351, "strand": "+", "slug": "pcdhac2" }, { "symbol": "PCDHB1", "ensemblId": "ENSG00000171815", "biotype": "protein_coding", "start": 141051374, "end": 141059346, "strand": "+", "slug": "pcdhb1" }, { "symbol": "PCDHB2", "ensemblId": "ENSG00000112852", "biotype": "protein_coding", "start": 141094597, "end": 141098703, "strand": "+", "slug": "pcdhb2" }, { "symbol": "PCDHB3", "ensemblId": "ENSG00000113205", "biotype": "protein_coding", "start": 141100473, "end": 141103827, "strand": "+", "slug": "pcdhb3" }, { "symbol": "PCDHB4", "ensemblId": "ENSG00000081818", "biotype": "protein_coding", "start": 141121818, "end": 141125623, "strand": "+", "slug": "pcdhb4" }, { "symbol": "PCDHB5", "ensemblId": "ENSG00000113209", "biotype": "protein_coding", "start": 141135206, "end": 141138615, "strand": "+", "slug": "pcdhb5" } ], "truncated": false }, "reports": [ { "slug": "leigh-syndrome", "name": "Zespół Leigha", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Zespół Leigha", "genes": 69, "inheritance": null, "description": "Postępująca choroba neurologiczna charakteryzująca się określonymi cechami neuropatologicznymi, obejmującymi zmiany w pniu mózgu i jądrach podstawy.", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/leigh-syndrome" }, { "slug": "primary-mitochondrial-disease", "name": "Pierwotna choroba mitochondrialna", "diseases": [ { "mondoId": "MONDO:0000066", "name": "Niedobór kompleksu łańcucha oddechowego mitochondriów", "genes": 61, "inheritance": null, "description": "Izolowane niedobory kompleksu I, II, III, IV lub V, spowodowane wariantami w genach jądrowych lub mitochondrialnych, które mogą dotyczyć mózgu, mięśni, serca, wątroby i innych narządów zużywających dużo energii.", "management": "Poznanie wyniku może zakończyć poszukiwanie diagnozy i pomóc w monitorowaniu dotkniętych narządów oraz unikaniu leków toksycznych dla mitochondriów.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "acidosis", "name": "Acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acidosis" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/apnea" }, { "slug": "decreased-circulating-carnitine-concentration", "name": "Carnitine deficiency", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coma" }, { "slug": "decreased-activity-of-mitochondrial-complex-i", "name": "Decreased activity of mitochondrial complex I", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "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": "obligate", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "focal-motor-seizure", "name": "Focal motor seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-motor-seizure" }, { "slug": "generalized-dystonia", "name": "Generalized dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-dystonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "cardiac-arrest", "name": "Heart stops beating", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cardiac-arrest" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "reduced-cerebral-white-matter-volume", "name": "Reduced cerebral white matter volume", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-cerebral-white-matter-volume" }, { "slug": "bradycardia", "name": "Slow heartbeats", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bradycardia" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 2, "url": "https://dantelabs.com/pl/genes/cox10" }, { "slug": "foxred1", "symbol": "FOXRED1", "name": "FAD dependent oxidoreductase domain containing 1", "shared": 2, "url": "https://dantelabs.com/pl/genes/foxred1" }, { "slug": "lrpprc", "symbol": "LRPPRC", "name": "leucine rich pentatricopeptide repeat containing", "shared": 2, "url": "https://dantelabs.com/pl/genes/lrpprc" }, { "slug": "ndufa1", "symbol": "NDUFA1", "name": "NADH:ubiquinone oxidoreductase subunit A1", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufa1" }, { "slug": "ndufa13", "symbol": "NDUFA13", "name": "NADH:ubiquinone oxidoreductase subunit A13", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufa13" }, { "slug": "ndufa9", "symbol": "NDUFA9", "name": "NADH:ubiquinone oxidoreductase subunit A9", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufa9" }, { "slug": "ndufaf2", "symbol": "NDUFAF2", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufaf2" }, { "slug": "ndufaf5", "symbol": "NDUFAF5", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufaf5" }, { "slug": "ndufaf6", "symbol": "NDUFAF6", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufaf6" }, { "slug": "ndufaf8", "symbol": "NDUFAF8", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufaf8" }, { "slug": "ndufb8", "symbol": "NDUFB8", "name": "NADH:ubiquinone oxidoreductase subunit B8", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufb8" }, { "slug": "ndufs1", "symbol": "NDUFS1", "name": "NADH:ubiquinone oxidoreductase core subunit S1", "shared": 2, "url": "https://dantelabs.com/pl/genes/ndufs1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }