{ "url": "https://dantelabs.com/fr/genes/ndufs7", "gene": { "slug": "ndufs7", "symbol": "NDUFS7", "name": "NADH:ubiquinone oxidoreductase core subunit S7", "hgnc": "HGNC:7714", "summary": null, "location": "19p13.3", "locusType": "gene with protein product", "aliases": [ "PSST", "FLJ46880", "FLJ45860", "CI-20" ], "previousSymbols": [], "ensemblId": "ENSG00000115286", "entrezId": 374291, "omim": [ "601825" ], "uniprot": [ "O75251" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 1383907, "end": 1395584, "strand": "+", "ensemblTranscript": "ENST00000233627.14", "refseqTranscript": "NM_024407.5", "ensemblProtein": "ENSP00000233627.9", "refseqProtein": "NP_077718.3", "exons": [ { "start": 1383907, "end": 1383942 }, { "start": 1387811, "end": 1387847 }, { "start": 1388525, "end": 1388593 }, { "start": 1388833, "end": 1388938 }, { "start": 1390871, "end": 1391050 }, { "start": 1391119, "end": 1391165 }, { "start": 1393242, "end": 1393330 }, { "start": 1395391, 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"FAM174C", "ensemblId": "ENSG00000310576", "biotype": "protein_coding", "start": 1275509, "end": 1279244, "strand": "+" }, { "symbol": "FAM174C", "ensemblId": "ENSG00000228300", "biotype": "protein_coding", "start": 1276021, "end": 1279244, "strand": "+", "slug": "fam174c" }, { "symbol": "EFNA2", "ensemblId": "ENSG00000099617", "biotype": "protein_coding", "start": 1285873, "end": 1301431, "strand": "+", "slug": "efna2" }, { "symbol": "PWWP3A", "ensemblId": "ENSG00000160953", "biotype": "protein_coding", "start": 1354293, "end": 1378434, "strand": "+", "slug": "pwwp3a" }, { "symbol": "GAMT", "ensemblId": "ENSG00000130005", "biotype": "protein_coding", "start": 1397026, "end": 1401731, "strand": "-", "slug": "gamt" }, { "symbol": "DAZAP1", "ensemblId": "ENSG00000071626", "biotype": "protein_coding", "start": 1407533, "end": 1435687, "strand": "+", "slug": "dazap1" }, { "symbol": "RPS15", "ensemblId": "ENSG00000115268", "biotype": "protein_coding", "start": 1438149, "end": 1440508, "strand": "+", "slug": "rps15" }, { "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" }, { "symbol": "ONECUT3", "ensemblId": "ENSG00000205922", "biotype": "protein_coding", "start": 1753506, "end": 1780988, "strand": "+", "slug": "onecut3" }, { "symbol": "ATP8B3", "ensemblId": "ENSG00000130270", "biotype": "protein_coding", "start": 1781761, "end": 1812295, "strand": "-", "slug": "atp8b3" }, { "symbol": "REXO1", "ensemblId": "ENSG00000079313", "biotype": "protein_coding", "start": 1815248, "end": 1848493, "strand": "-", "slug": "rexo1" }, { "symbol": "KLF16", "ensemblId": "ENSG00000129911", "biotype": "protein_coding", "start": 1852399, "end": 1863919, "strand": "-", "slug": "klf16" }, { "symbol": "ABHD17A", "ensemblId": "ENSG00000129968", "biotype": "protein_coding", "start": 1876810, "end": 1885618, "strand": "-", "slug": "abhd17a" } ], "truncated": false }, "reports": [ { "slug": "leigh-syndrome", "name": "Syndrome de Leigh", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Syndrome de Leigh", "genes": 69, "inheritance": null, "description": "Une maladie neurologique évolutive caractérisée par des anomalies neuropathologiques spécifiques associant des lésions du tronc cérébral et des ganglions de la base.", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/leigh-syndrome" }, { "slug": "primary-mitochondrial-disease", "name": "Maladie mitochondriale primaire", "diseases": [ { "mondoId": "MONDO:0000066", "name": "Déficit du complexe de la chaîne respiratoire mitochondriale", "genes": 61, "inheritance": null, "description": "Déficits isolés des complexes I, II, III, IV ou V, causés par des variants de gènes nucléaires ou mitochondriaux, pouvant toucher le cerveau, les muscles, le cœur, le foie et d'autres organes à forte demande énergétique.", "management": "Connaître ce résultat peut mettre fin à une recherche diagnostique et guider la surveillance des organes atteints ainsi que l'éviction des médicaments toxiques pour les mitochondries.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-mitochondria-in-muscle-tissue", "name": "Abnormal mitochondria in muscle tissue", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-mitochondria-in-muscle-tissue" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "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": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-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": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "optic-neuropathy", "name": "Damaged optic nerve", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "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": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/seizure" }, { "slug": "episodic-vomiting", "name": "Episodic vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/episodic-vomiting" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-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": "fetal-distress", "name": "Fetal distress", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fetal-distress" }, { "slug": "focal-t2-hyperintense-brainstem-lesion", "name": "Focal T2 hyperintense brainstem lesion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/focal-t2-hyperintense-brainstem-lesion" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "increased-circulating-pyruvate-concentration", "name": "Increased circulating pyruvate concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "mitochondrial-myopathy", "name": "Mitochondrial myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mitochondrial-myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "paroxysmal-involuntary-eye-movements", "name": "Paroxysmal involuntary eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/paroxysmal-involuntary-eye-movements" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "proximal-tubulopathy", "name": "Proximal tubulopathy", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/proximal-tubulopathy" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "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/fr/genes/cox10" }, { "slug": "foxred1", "symbol": "FOXRED1", "name": "FAD dependent oxidoreductase domain containing 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/foxred1" }, { "slug": "lrpprc", "symbol": "LRPPRC", "name": "leucine rich pentatricopeptide repeat containing", "shared": 2, "url": "https://dantelabs.com/fr/genes/lrpprc" }, { "slug": "ndufa1", "symbol": "NDUFA1", "name": "NADH:ubiquinone oxidoreductase subunit A1", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufa1" }, { "slug": "ndufa13", "symbol": "NDUFA13", "name": "NADH:ubiquinone oxidoreductase subunit A13", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufa13" }, { "slug": "ndufa2", "symbol": "NDUFA2", "name": "NADH:ubiquinone oxidoreductase subunit A2", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufa2" }, { "slug": "ndufa9", "symbol": "NDUFA9", "name": "NADH:ubiquinone oxidoreductase subunit A9", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufa9" }, { "slug": "ndufaf2", "symbol": "NDUFAF2", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufaf2" }, { "slug": "ndufaf5", "symbol": "NDUFAF5", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufaf5" }, { "slug": "ndufaf6", "symbol": "NDUFAF6", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufaf6" }, { "slug": "ndufaf8", "symbol": "NDUFAF8", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufaf8" }, { "slug": "ndufb8", "symbol": "NDUFB8", "name": "NADH:ubiquinone oxidoreductase subunit B8", "shared": 2, "url": "https://dantelabs.com/fr/genes/ndufb8" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }