{ "url": "https://dantelabs.com/lt/genes/opa3", "gene": { "slug": "opa3", "symbol": "OPA3", "name": "outer mitochondrial membrane lipid metabolism regulator OPA3", "hgnc": "HGNC:8142", "summary": null, "location": "19q13.32", "locusType": "gene with protein product", "aliases": [ "FLJ22187", "MGA3" ], "previousSymbols": [], "ensemblId": "ENSG00000125741", "entrezId": 80207, "omim": [ "606580" ], "uniprot": [ "Q9H6K4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 45546281, "end": 45584802, "strand": "-", "ensemblTranscript": "ENST00000263275.5", "refseqTranscript": "NM_025136.4", "ensemblProtein": "ENSP00000263275.4", "refseqProtein": "NP_079412.1", "exons": [ { "start": 45546281, "end": 45553911 }, { "start": 45584623, "end": 45584802 } ], "cds": { "start": 45553514, "end": 45584764 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 46030685, "end": 46105470, "strand": "-" }, "neighbourhood": { "release": "116", "start": 45065542, 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"strand": "+", "slug": "meiosin" }, { "symbol": "SIX5", "ensemblId": "ENSG00000177045", "biotype": "protein_coding", "start": 45764767, "end": 45769252, "strand": "-", "slug": "six5" }, { "symbol": "DMPK", "ensemblId": "ENSG00000104936", "biotype": "protein_coding", "start": 45769709, "end": 45782794, "strand": "-", "slug": "dmpk" }, { "symbol": "", "ensemblId": "ENSG00000268434", "biotype": "protein_coding", "start": 45779437, "end": 45785973, "strand": "-" }, { "symbol": "DMWD", "ensemblId": "ENSG00000185800", "biotype": "protein_coding", "start": 45782944, "end": 45792949, "strand": "-", "slug": "dmwd" }, { "symbol": "RSPH6A", "ensemblId": "ENSG00000104941", "biotype": "protein_coding", "start": 45795713, "end": 45815308, "strand": "-", "slug": "rsph6a" }, { "symbol": "SYMPK", "ensemblId": "ENSG00000125755", "biotype": "protein_coding", "start": 45815410, "end": 45866862, "strand": "-", "slug": "sympk" }, { "symbol": "FOXA3", "ensemblId": "ENSG00000170608", "biotype": "protein_coding", "start": 45863989, "end": 45873798, "strand": "+", "slug": "foxa3" }, { "symbol": "IRF2BP1", "ensemblId": "ENSG00000170604", "biotype": "protein_coding", "start": 45883608, "end": 45886141, "strand": "-", "slug": "irf2bp1" }, { "symbol": "MYPOP", "ensemblId": "ENSG00000176182", "biotype": "protein_coding", "start": 45890020, "end": 45902808, "strand": "-", "slug": "mypop" }, { "symbol": "NANOS2", "ensemblId": "ENSG00000188425", "biotype": "protein_coding", "start": 45913214, "end": 45914778, "strand": "-", "slug": "nanos2" }, { "symbol": "NOVA2", "ensemblId": "ENSG00000104967", "biotype": "protein_coding", "start": 45933734, "end": 45974044, "strand": "-", "slug": "nova2" }, { "symbol": "CCDC61", "ensemblId": "ENSG00000104983", "biotype": "protein_coding", "start": 45995444, "end": 46021318, "strand": "+", "slug": "ccdc61" }, { "symbol": "PGLYRP1", "ensemblId": "ENSG00000008438", "biotype": "protein_coding", "start": 46019153, "end": 46023367, "strand": "-", "slug": "pglyrp1" }, { "symbol": "IGFL4", "ensemblId": "ENSG00000204869", "biotype": "protein_coding", "start": 46039182, "end": 46077118, "strand": "-", "slug": "igfl4" } ], "truncated": false }, "reports": [ { "slug": "hereditary-optic-neuropathy", "name": "Paveldima regos nervo neuropatija", "diseases": [ { "mondoId": "MONDO:0043878", "name": "Paveldimas regos nervo atrofija", "genes": 13, "inheritance": null, "description": "Paveldimas regos nervo skaidulų netekimas, dažniausiai autosominė dominuojanti regos nervo atrofija, kurią sukelia OPA1 pakitimai, įskaitant retesnes formas, kurias sukelia OPA3, DNM1L, SSBP1 ir kiti genai.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/hereditary-optic-neuropathy" } ], "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": "3-methylglutaric-aciduria", "name": "3-Methylglutaric aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/3-methylglutaric-aciduria" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "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": "abnormal-thumb-morphology", "name": "Abnormality of the thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-thumb-morphology" }, { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "anterior-cortical-cataract", "name": "Anterior cortical cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anterior-cortical-cataract" }, { "slug": "anterior-subcapsular-cataract", "name": "Anterior subcapsular cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anterior-subcapsular-cataract" }, { "slug": "areflexia-of-lower-limbs", "name": "Areflexia of lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "scotoma", "name": "Blind spot", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scotoma" }, { "slug": "central-scotoma", "name": "Blind spot located at fixation point", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/central-scotoma" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "tritanomaly", "name": "Blue yellow color blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tritanomaly" }, { "slug": "cerulean-cataract", "name": "Cerulean cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerulean-cataract" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/chorea" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "diminished-deep-tendon-reflex", "name": "Diminished deep tendon reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex" }, { "slug": "deviation-of-the-2nd-finger", "name": "Displaced index finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/deviation-of-the-2nd-finger" }, { "slug": "extrapyramidal-muscular-rigidity", "name": "Extrapyramidal muscular rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/extrapyramidal-muscular-rigidity" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "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" ], "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "limited-elbow-extension", "name": "Limited elbow extension", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limited-elbow-extension" }, { "slug": "limited-wrist-movement", "name": "Limited wrist movement", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limited-wrist-movement" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "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": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "pain", "name": "Pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pain" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "positive-romberg-sign", "name": "Positive Romberg sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/positive-romberg-sign" }, { "slug": "posterior-cortical-cataract", "name": "Posterior cortical cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posterior-cortical-cataract" }, { "slug": "posterior-subcapsular-cataract", "name": "Posterior subcapsular cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract" }, { "slug": "postural-tremor", "name": "Postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postural-tremor" }, { "slug": "dyslexia", "name": "Reading disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyslexia" }, { "slug": "red-green-dyschromatopsia", "name": "Red green color blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/red-green-dyschromatopsia" }, { "slug": "resting-tremor", "name": "Resting tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/resting-tremor" }, { "slug": "somatic-sensory-dysfunction", "name": "Somatic sensory dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction" }, { "slug": "spastic-paraparesis", "name": "Spastic paraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-paraparesis" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/tremor" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "aco2", "symbol": "ACO2", "name": "aconitase 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/aco2" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/lt/genes/afg3l2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp1a3" }, { "slug": "dnm1l", "symbol": "DNM1L", "name": "dynamin 1L", "shared": 1, "url": "https://dantelabs.com/lt/genes/dnm1l" }, { "slug": "mt-nd1", "symbol": "MT-ND1", "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/mt-nd1" }, { "slug": "mt-nd4", "symbol": "MT-ND4", "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4", "shared": 1, "url": "https://dantelabs.com/lt/genes/mt-nd4" }, { "slug": "mt-nd5", "symbol": "MT-ND5", "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5", "shared": 1, "url": "https://dantelabs.com/lt/genes/mt-nd5" }, { "slug": "mt-nd6", "symbol": "MT-ND6", "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6", "shared": 1, "url": "https://dantelabs.com/lt/genes/mt-nd6" }, { "slug": "opa1", "symbol": "OPA1", "name": "OPA1 mitochondrial dynamin like GTPase", "shared": 1, "url": "https://dantelabs.com/lt/genes/opa1" }, { "slug": "rtn4ip1", "symbol": "RTN4IP1", "name": "reticulon 4 interacting protein 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/rtn4ip1" }, { "slug": "ssbp1", "symbol": "SSBP1", "name": "single stranded DNA binding protein 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/ssbp1" }, { "slug": "tmem126a", "symbol": "TMEM126A", "name": "transmembrane protein 126A", "shared": 1, "url": "https://dantelabs.com/lt/genes/tmem126a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }