{ "url": "https://dantelabs.com/sv/genes/foxred1", "gene": { "slug": "foxred1", "symbol": "FOXRED1", "name": "FAD dependent oxidoreductase domain containing 1", "hgnc": "HGNC:26927", "summary": null, "location": "11q24.2", "locusType": "gene with protein product", "aliases": [ "H17" ], "previousSymbols": [], "ensemblId": "ENSG00000110074", "entrezId": 55572, "omim": [ "613622" ], "uniprot": [ "Q96CU9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 126269154, "end": 126278126, "strand": "+", "ensemblTranscript": "ENST00000263578.10", "refseqTranscript": "NM_017547.4", "ensemblProtein": "ENSP00000263578.5", "refseqProtein": "NP_060017.1", "exons": [ { "start": 126269154, "end": 126269291 }, { "start": 126271437, "end": 126271657 }, { "start": 126272969, "end": 126273079 }, { "start": 126273336, "end": 126273454 }, { "start": 126274927, "end": 126275021 }, { "start": 126275327, "end": 126275428 }, { "start": 126275794, "end": 126275870 }, { "start": 126276059, "end": 126276219 }, { "start": 126276394, "end": 126276523 }, { "start": 126277071, "end": 126277175 }, { "start": 126277435, "end": 126278126 } ], "cds": { "start": 126269207, "end": 126277689 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 126138950, "end": 126148026, "strand": "+" }, "neighbourhood": { "release": "116", "start": 125773640, "end": 126773639, "genes": [ { "symbol": "PATE2", "ensemblId": "ENSG00000196844", "biotype": "protein_coding", "start": 125776113, "end": 125778828, "strand": "-", "slug": "pate2" }, { "symbol": "PATE3", "ensemblId": "ENSG00000236027", "biotype": "protein_coding", "start": 125788127, "end": 125791600, "strand": "+", "slug": "pate3" }, { "symbol": "PATE4", "ensemblId": "ENSG00000237353", "biotype": "protein_coding", "start": 125833316, "end": 125840072, "strand": "+", "slug": "pate4" }, { "symbol": "HYLS1", "ensemblId": "ENSG00000198331", "biotype": "protein_coding", "start": 125883614, "end": 125900846, "strand": "+", "slug": "hyls1" }, { "symbol": "PUS3", "ensemblId": "ENSG00000110060", "biotype": "protein_coding", "start": 125892347, "end": 125903227, "strand": "-", "slug": "pus3" }, { "symbol": "DDX25", "ensemblId": "ENSG00000109832", "biotype": "protein_coding", "start": 125903348, "end": 125943702, "strand": "+", "slug": "ddx25" }, { "symbol": "VSIG10L2", "ensemblId": "ENSG00000283703", "biotype": "protein_coding", "start": 125946044, "end": 125958647, "strand": "+", "slug": "vsig10l2" }, { "symbol": "CDON", "ensemblId": "ENSG00000064309", "biotype": "protein_coding", "start": 125955796, "end": 126063335, "strand": "-", "slug": "cdon" }, { "symbol": "RPUSD4", "ensemblId": "ENSG00000165526", "biotype": "protein_coding", "start": 126201792, "end": 126211692, "strand": "-", "slug": "rpusd4" }, { "symbol": "SIRAL1", "ensemblId": "ENSG00000197798", "biotype": "protein_coding", "start": 126211687, "end": 126265162, "strand": "+", "slug": "siral1" }, { "symbol": "SRPRA", "ensemblId": "ENSG00000182934", "biotype": "protein_coding", "start": 126255132, "end": 126269144, "strand": "-", "slug": "srpra" }, { "symbol": "TIRAP", "ensemblId": "ENSG00000150455", "biotype": "protein_coding", "start": 126282497, "end": 126298845, "strand": "+", "slug": "tirap" }, { "symbol": "DCPS", "ensemblId": "ENSG00000110063", "biotype": "protein_coding", "start": 126303971, "end": 126350005, "strand": "+", "slug": "dcps" }, { "symbol": "ST3GAL4", "ensemblId": "ENSG00000110080", "biotype": "protein_coding", "start": 126354677, "end": 126442293, "strand": "+", "slug": "st3gal4" }, { "symbol": "KIRREL3", "ensemblId": "ENSG00000149571", "biotype": "protein_coding", "start": 126423358, "end": 127003460, "strand": "-", "slug": "kirrel3" } ], "truncated": false }, "reports": [ { "slug": "leigh-syndrome", "name": "Leighs syndrom", "diseases": [ { "mondoId": "MONDO:0009723", "name": "Leighs syndrom", "genes": 69, "inheritance": null, "description": "En progressiv neurologisk sjukdom som definieras av specifika neuropatologiska drag, med skador i hjärnstammen och basala ganglier.", "management": null, "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/leigh-syndrome" }, { "slug": "primary-mitochondrial-disease", "name": "Primär mitokondriell sjukdom", "diseases": [ { "mondoId": "MONDO:0000066", "name": "Brist på mitokondriella andningskedjekomplex", "genes": 61, "inheritance": null, "description": "Isolerad brist på komplex I, II, III, IV eller V, orsakad av varianter i kärngener eller mitokondriella gener. Den kan påverka hjärnan, musklerna, hjärtat, levern och andra organ med högt energibehov.", "management": "Kunskapen kan avsluta en diagnostisk sökning och vägleda uppföljning av drabbade organ och undvikande av läkemedel som är toxiska för mitokondrierna.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/primary-mitochondrial-disease" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Sällsynta ärftliga perifera neuropatier", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Ärftlig perifer neuropati", "genes": 233, "inheritance": null, "description": "Orsakas av förändringar i någon av de många gener som behövs för att hålla de långa nervfibrerna friska. I denna rapport ingår bland annat IGHMBP2 och PLEKHG5, som är recessiva.", "management": "Sjukgymnastik, ortoser och arbetsterapi hjälper till att bibehålla rörligheten, och kirurgi vid fotdeformiteter görs vid behov. Vissa former kräver uppföljning av andningen. Genetisk rådgivning vägleder släktingstestning utifrån gens ärftlighetsmönster.", "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/rare-hereditary-peripheral-neuropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-disturbance" }, { "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": "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": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "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": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "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": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-myelination", "name": "Delayed myelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-myelination" }, { "slug": "secondary-microcephaly", "name": "Development of small head that was not present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/secondary-microcephaly" }, { "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": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "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": "obligate", "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": "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": "occasional", "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": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "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": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "athetosis", "name": "Involuntary writhing movements in fingers, hands, toes, and feet", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/athetosis" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "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": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "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": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "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-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "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": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/poor-speech" }, { "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": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/scoliosis" }, { "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": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "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": 3, "url": "https://dantelabs.com/sv/genes/cox10" }, { "slug": "lrpprc", "symbol": "LRPPRC", "name": "leucine rich pentatricopeptide repeat containing", "shared": 3, "url": "https://dantelabs.com/sv/genes/lrpprc" }, { "slug": "ndufa1", "symbol": "NDUFA1", "name": "NADH:ubiquinone oxidoreductase subunit A1", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufa1" }, { "slug": "ndufa13", "symbol": "NDUFA13", "name": "NADH:ubiquinone oxidoreductase subunit A13", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufa13" }, { "slug": "ndufa2", "symbol": "NDUFA2", "name": "NADH:ubiquinone oxidoreductase subunit A2", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufa2" }, { "slug": "ndufa9", "symbol": "NDUFA9", "name": "NADH:ubiquinone oxidoreductase subunit A9", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufa9" }, { "slug": "ndufaf2", "symbol": "NDUFAF2", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufaf2" }, { "slug": "ndufaf5", "symbol": "NDUFAF5", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufaf5" }, { "slug": "ndufaf6", "symbol": "NDUFAF6", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufaf6" }, { "slug": "ndufaf8", "symbol": "NDUFAF8", "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufaf8" }, { "slug": "ndufb8", "symbol": "NDUFB8", "name": "NADH:ubiquinone oxidoreductase subunit B8", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufb8" }, { "slug": "ndufs1", "symbol": "NDUFS1", "name": "NADH:ubiquinone oxidoreductase core subunit S1", "shared": 3, "url": "https://dantelabs.com/sv/genes/ndufs1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }