{ "url": "https://dantelabs.com/it/genes/ndufa13", "gene": { "slug": "ndufa13", "symbol": "NDUFA13", "name": "NADH:ubiquinone oxidoreductase subunit A13", "hgnc": "HGNC:17194", "summary": null, "location": "19p13.11", "locusType": "gene with protein product", "aliases": [ "CGI-39", "CDA016", "GRIM-19", "GRIM19", "B16.6" ], "previousSymbols": [], "ensemblId": "ENSG00000186010", "entrezId": 51079, "omim": [ "609435" ], "uniprot": [ "Q9P0J0" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 19516225, "end": 19528198, "strand": "+", "ensemblTranscript": "ENST00000507754.9", "refseqTranscript": "NM_015965.7", "ensemblProtein": "ENSP00000423673.1", "refseqProtein": "NP_057049.5", "exons": [ { "start": 19516225, "end": 19516332 }, { "start": 19526182, "end": 19526260 }, { "start": 19527281, "end": 19527352 }, { "start": 19527701, "end": 19527770 }, { "start": 19528007, "end": 19528198 } ], "cds": { "start": 19516239, "end": 19528126 } }, "grch37": { "build": 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"slug": "znf14" }, { "symbol": "ZNF506", "ensemblId": "ENSG00000081665", "biotype": "protein_coding", "start": 19761038, "end": 19821784, "strand": "-", "slug": "znf506" }, { "symbol": "ZNF253", "ensemblId": "ENSG00000256771", "biotype": "protein_coding", "start": 19865812, "end": 19897770, "strand": "+", "slug": "znf253" }, { "symbol": "ZNF93", "ensemblId": "ENSG00000184635", "biotype": "protein_coding", "start": 19900888, "end": 19963464, "strand": "+", "slug": "znf93" }, { "symbol": "ZNF682", "ensemblId": "ENSG00000197124", "biotype": "protein_coding", "start": 19995131, "end": 20039533, "strand": "-", "slug": "znf682" } ], "truncated": false }, "reports": [ { "slug": "leigh-syndrome", "name": "Sindrome di Leigh", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Sindrome di Leigh", "genes": 69, "inheritance": null, "description": "Una malattia neurologica progressiva definita da specifiche caratteristiche neuropatologiche associate a lesioni del tronco encefalico e dei gangli della base.", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/it/conditions/leigh-syndrome" }, { "slug": "primary-mitochondrial-disease", "name": "Malattia mitocondriale primaria", "diseases": [ { "mondoId": "MONDO:0000066", "name": "Deficit del complesso della catena respiratoria mitocondriale", "genes": 61, "inheritance": null, "description": "Deficit isolati dei complessi I, II, III, IV o V, causati da varianti in geni nucleari o mitocondriali, che possono interessare il cervello, i muscoli, il cuore, il fegato e altri organi ad alto consumo energetico.", "management": "Conoscere questa condizione può porre fine a una ricerca diagnostica e guidare il monitoraggio degli organi interessati e l'evitamento di farmaci tossici per i mitocondri.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/it/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "akinesia", "name": "Akinesia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/akinesia" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "optic-neuropathy", "name": "Damaged optic nerve", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-neuropathy" }, { "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": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dyskinesia", "name": "Disorder of involuntary muscle movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyskinesia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-onset-seizure" }, { "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": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "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": "hyperalaninemia", "name": "Increased blood alanine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperalaninemia" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "slow-saccadic-eye-movements", "name": "Slow eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements" } ], "related": [ { "slug": "cox10", "symbol": "COX10", "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10", "shared": 2, "url": "https://dantelabs.com/it/genes/cox10" }, { "slug": "foxred1", "symbol": "FOXRED1", "name": "FAD dependent oxidoreductase domain containing 1", "shared": 2, "url": "https://dantelabs.com/it/genes/foxred1" }, { "slug": "lrpprc", "symbol": "LRPPRC", "name": "leucine rich pentatricopeptide repeat containing", "shared": 2, "url": "https://dantelabs.com/it/genes/lrpprc" }, { "slug": "ndufa1", "symbol": "NDUFA1", "name": "NADH:ubiquinone oxidoreductase subunit A1", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufa1" }, { "slug": "ndufa2", "symbol": "NDUFA2", "name": "NADH:ubiquinone oxidoreductase subunit A2", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufa2" }, { "slug": "ndufa9", "symbol": "NDUFA9", "name": "NADH:ubiquinone oxidoreductase subunit A9", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufa9" }, { "slug": "ndufaf2", "symbol": "NDUFAF2", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufaf2" }, { "slug": "ndufaf5", "symbol": "NDUFAF5", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufaf5" }, { "slug": "ndufaf6", "symbol": "NDUFAF6", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufaf6" }, { "slug": "ndufaf8", "symbol": "NDUFAF8", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufaf8" }, { "slug": "ndufb8", "symbol": "NDUFB8", "name": "NADH:ubiquinone oxidoreductase subunit B8", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufb8" }, { "slug": "ndufs1", "symbol": "NDUFS1", "name": "NADH:ubiquinone oxidoreductase core subunit S1", "shared": 2, "url": "https://dantelabs.com/it/genes/ndufs1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }