{ "url": "https://dantelabs.com/tr/genes/rrm2b", "gene": { "slug": "rrm2b", "symbol": "RRM2B", "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "hgnc": "HGNC:17296", "summary": null, "location": "8q22.3", "locusType": "gene with protein product", "aliases": [ "p53R2" ], "previousSymbols": [], "ensemblId": "ENSG00000048392", "entrezId": 50484, "omim": [ "604712" ], "uniprot": [ "Q7LG56" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "8", "start": 102204502, "end": 102238961, "strand": "-", "ensemblTranscript": "ENST00000251810.8", "refseqTranscript": "NM_015713.5", "ensemblProtein": "ENSP00000251810.3", "refseqProtein": "NP_056528.2", "exons": [ { "start": 102204502, "end": 102208285 }, { "start": 102212776, "end": 102212889 }, { "start": 102214054, "end": 102214158 }, { "start": 102218814, "end": 102218947 }, { "start": 102224046, "end": 102224140 }, { "start": 102224885, "end": 102225018 }, { "start": 102225918, "end": 102226034 }, { "start": 102232149, "end": 102232304 }, { "start": 102238827, "end": 102238961 } ], "cds": { "start": 102208133, "end": 102238874 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "8", "start": 103216730, "end": 103251346, "strand": "-" }, "neighbourhood": { "release": "116", "start": 101721732, "end": 102721731, "genes": [ { "symbol": "NCALD", "ensemblId": "ENSG00000104490", "biotype": "protein_coding", "start": 101686542, "end": 102124907, "strand": "-", "slug": "ncald" }, { "symbol": "UBR5", "ensemblId": "ENSG00000104517", "biotype": "protein_coding", "start": 102250605, "end": 102412883, "strand": "-", "slug": "ubr5" }, { "symbol": "ODF1", "ensemblId": "ENSG00000155087", "biotype": "protein_coding", "start": 102551589, "end": 102561018, "strand": "+", "slug": "odf1" }, { "symbol": "KLF10", "ensemblId": "ENSG00000155090", "biotype": "protein_coding", "start": 102648781, "end": 102655729, "strand": "-", "slug": "klf10" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primer Mitokondriyal Hastalık", "diseases": [ { "mondoId": "MONDO:0000090", "name": "Mitokondriyal DNA Delesyonlarıyla Ilerleyici Dışsal Oftalmopleji", "genes": 8, "inheritance": null, "description": "POLG, TWNK, SLC25A4 ve RRM2B gibi nükleer genlerdeki varyantlardan kaynaklanır. Bu varyantlar birden fazla mitokondriyal DNA delesyonuna yol açarak genellikle erişkinlikte göz kapaklarında sarkma, göz hareketlerinde zayıflık ve kas güçsüzlüğüne neden olur.", "management": "Bu bilgi göz, kalp ve yutma işlevinin izlenmesine ve POLG hastalığında valproattan kaçınılmasına yol gösterir.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018158", "name": "Mitokondriyal DNA Azalma Sendromu", "genes": 20, "inheritance": null, "description": "POLG, TWNK, TK2, DGUOK, MPV17, RRM2B ve SUCLA2 gibi nükleer genlerdeki varyantlardan kaynaklanır. Bu varyantlar mitokondriyal DNA miktarını azaltır ve kas, karaciğer ya da beyin hastalığına yol açabilir.", "management": "Bu bilgi doğrudan eyleme dönüştürülebilir: POLG hastalığında ölümcül karaciğer yetmezliği riski nedeniyle valproattan kaçınılmalıdır. TK2 eksikliğinin ise nükleozid tedavisi bulunmaktadır.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/primary-mitochondrial-disease" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Nadir Görülen Kalıtsal Periferik Nöropatiler", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Kalıtsal Periferik Nöropati", "genes": 233, "inheritance": null, "description": "Uzun sinir liflerinin sağlıklı kalmasını sağlayan pek çok genden birindeki değişikliklerden kaynaklanır. Bu raporda yer alan IGHMBP2 ve PLEKHG5 genleri çekinik özellik göstermektedir.", "management": "Fizyoterapi, ortezler ve ergoterapi hareket kabiliyetinin korunmasına yardımcı olur; gerektiğinde ayak deformiteleri için cerrahi uygulanabilir. Bazı tiplerde solunumun izlenmesi gerekir. Genetik danışmanlık, ilgili genin kalıtım örüntüsüne göre aile bireylerinin test edilmesi konusunda yol gösterir.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/rare-hereditary-peripheral-neuropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-atrioventricular-conduction", "name": "Abnormal atrioventricular conduction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-atrioventricular-conduction" }, { "slug": "abnormal-cell-morphology", "name": "Abnormal cell morphology", "systems": [ "abnormal-cellular-phenotype" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cell-morphology" }, { "slug": "abnormal-cerebral-white-matter-morphology", "name": "Abnormal cerebral white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormal-spinocerebellar-tract-morphology", "name": "Abnormal spinocerebellar tract morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-spinocerebellar-tract-morphology" }, { "slug": "aminoaciduria", "name": "Abnormal urinary amino-acid findings", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/aminoaciduria" }, { "slug": "gait-imbalance", "name": "Abnormality of balance", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-imbalance" }, { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "abnormality-of-eye-movement", "name": "Abnormality of eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-eye-movement" }, { "slug": "abnormality-of-the-extraocular-muscles", "name": "Abnormality of the extraocular muscles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-extraocular-muscles" }, { "slug": "abnormality-of-the-gastrointestinal-tract", "name": "Abnormality of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-gastrointestinal-tract" }, { "slug": "abnormality-of-the-hand", "name": "Abnormality of the hand", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-hand" }, { "slug": "abnormality-of-the-liver", "name": "Abnormality of the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-liver" }, { "slug": "abnormality-of-the-mitochondrion", "name": "Abnormality of the mitochondrion", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-mitochondrion" }, { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "renal-tubular-acidosis", "name": "Accumulation of acid in body due to kidney problem", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-tubular-acidosis" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "anterior-hypopituitarism", "name": "Anterior hypopituitarism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anterior-hypopituitarism" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "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": "atrophic-muscularis-propria", "name": "Atrophic muscularis propria", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atrophic-muscularis-propria" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "bipolar-affective-disorder", "name": "Bipolar disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bipolar-affective-disorder" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "cogwheel-rigidity", "name": "Cogwheel rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cogwheel-rigidity" }, { "slug": "third-degree-atrioventricular-block", "name": "Complete heart block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/third-degree-atrioventricular-block" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "cytochrome-c-oxidase-negative-muscle-fibers", "name": "Cytochrome C oxidase-negative muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "decreased-activity-of-mitochondrial-complex-iv", "name": "Decreased activity of mitochondrial complex IV", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv" }, { "slug": "hypomimic-face", "name": "Decreased facial expressions", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypomimic-face" }, { "slug": "respiratory-insufficiency-due-to-muscle-weakness", "name": "Decreased lung function due to weak breathing muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "decreased-motor-nerve-conduction-velocity", "name": "Decreased motor nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity" }, { "slug": "decreased-muscle-mass", "name": "Decreased muscle mass", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-muscle-mass" }, { "slug": "hypokinesia", "name": "Decreased muscle movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypokinesia" }, { "slug": "decreased-number-of-large-peripheral-myelinated-nerve-fibers", "name": "Decreased number of large peripheral myelinated nerve fibers", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-number-of-large-peripheral-myelinated-nerve-fibers" }, { "slug": "hypoparathyroidism", "name": "Decreased parathyroid hormone secretion", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoparathyroidism" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "decreased-sensory-nerve-conduction-velocity", "name": "Decreased sensory nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-sensory-nerve-conduction-velocity" }, { "slug": "deficit-in-phonologic-short-term-memory", "name": "Deficit in phonologic short-term memory", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/deficit-in-phonologic-short-term-memory" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "gastroparesis", "name": "Delayed gastric emptying", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroparesis" }, { "slug": "delayed-puberty", "name": "Delayed puberty", "systems": [ "abnormality-of-the-endocrine-system", "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-puberty" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "demyelinating-peripheral-neuropathy", "name": "Demyelinating peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "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": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "diminished-deep-tendon-reflex", "name": "Diminished deep tendon reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "goiter", "name": "Enlarged thyroid gland in neck", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/goiter" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "exercise-induced-myalgia", "name": "Exercise-induced muscle pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exercise-induced-myalgia" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "facial-diplegia", "name": "Facial diplegia", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-diplegia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigable-weakness-of-respiratory-muscles", "name": "Fatigable weakness of respiratory muscles", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigable-weakness-of-respiratory-muscles" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/edema" }, { "slug": "focal-white-matter-lesions", "name": "Focal white matter lesions", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-white-matter-lesions" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "gastrointestinal-dysmotility", "name": "Gastrointestinal dysmotility", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gastrointestinal-dysmotility" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "glycosuria", "name": "Glucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glycosuria" }, { "slug": "glucose-intolerance", "name": "Glucose intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glucose-intolerance" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "ketosis", "name": "High levels of ketone bodies", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ketosis" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "hypergonadotropic-hypogonadism", "name": "Hypergonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "hyperalaninemia", "name": "Increased blood alanine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperalaninemia" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "increased-csf-protein-concentration", "name": "Increased CSF protein concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-csf-protein-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "increased-muscle-fatiguability", "name": "Increased muscle fatiguability", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/increased-muscle-fatiguability" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "esotropia", "name": "Inward turning cross eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/esotropia" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "limb-muscle-weakness", "name": "Limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limb-muscle-weakness" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "peripheral-visual-field-loss", "name": "Loss of peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-visual-field-loss" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "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": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "macrovesicular-hepatic-steatosis", "name": "Macrovesicular hepatic steatosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrovesicular-hepatic-steatosis" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "mitochondrial-myopathy", "name": "Mitochondrial myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitochondrial-myopathy" }, { "slug": "multiple-mitochondrial-dna-deletions", "name": "Multiple mitochondrial DNA deletions", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/multiple-mitochondrial-dna-deletions" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "nausea", "name": "Nausea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nausea" }, { "slug": "neck-flexor-weakness", "name": "Neck flexion weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neck-flexor-weakness" }, { "slug": "neck-muscle-weakness", "name": "Neck muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neck-muscle-weakness" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "nocturia", "name": "Nocturia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/nocturia" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "hyperthyroidism", "name": "Overactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hyperthyroidism" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "external-ophthalmoplegia", "name": "Paralysis or weakness of muscles within or surrounding outer part of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/external-ophthalmoplegia" }, { "slug": "hemiplegia-hemiparesis", "name": "Paralysis or weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "pigmentary-retinopathy", "name": "Pigmentary retinopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pigmentary-retinopathy" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "poor-appetite", "name": "Poor appetite", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-appetite" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-external-ophthalmoplegia", "name": "Progressive external ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia" }, { "slug": "progressive-intervertebral-space-narrowing", "name": "Progressive intervertebral space narrowing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-intervertebral-space-narrowing" }, { "slug": "proximal-tubulopathy", "name": "Proximal tubulopathy", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-tubulopathy" }, { "slug": "psychomotor-deterioration", "name": "Psychomotor deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/psychomotor-deterioration" }, { "slug": "quadriceps-muscle-weakness", "name": "Quadriceps weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/quadriceps-muscle-weakness" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "ragged-red-muscle-fibers", "name": "Ragged-red muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "reduced-left-ventricular-ejection-fraction", "name": "Reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction" }, { "slug": "renal-fanconi-syndrome", "name": "Renal Fanconi syndrome", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-fanconi-syndrome" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "resting-tremor", "name": "Resting tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/resting-tremor" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cirrhosis" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "severe-lactic-acidosis", "name": "Severe lactic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-lactic-acidosis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "small-intestinal-dysmotility", "name": "Small intestinal dysmotility", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/small-intestinal-dysmotility" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/easy-fatigability" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "limb-dysmetria", "name": "Uncoordinated limb movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limb-dysmetria" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "ventricular-arrhythmia", "name": "Ventricular arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-arrhythmia" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "cachexia", "name": "Wasting syndrome", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cachexia" }, { "slug": "rickets", "name": "Weak and soft bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rickets" }, { "slug": "shoulder-girdle-muscle-weakness", "name": "Weak shoulder muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness" }, { "slug": "weakness-of-facial-musculature", "name": "Weakness of facial musculature", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weakness-of-facial-musculature" }, { "slug": "ophthalmoparesis", "name": "Weakness of muscles controlling eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoparesis" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-muscle-weakness" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weight-loss" }, { "slug": "progressive-neurologic-deterioration", "name": "Worsening neurological symptoms", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration" } ], "related": [ { "slug": "polg", "symbol": "POLG", "name": "DNA polymerase gamma, catalytic subunit", "shared": 3, "url": "https://dantelabs.com/tr/genes/polg" }, { "slug": "dna2", "symbol": "DNA2", "name": "DNA replication helicase/nuclease 2", "shared": 2, "url": "https://dantelabs.com/tr/genes/dna2" }, { "slug": "fbxl4", "symbol": "FBXL4", "name": "F-box and leucine rich repeat protein 4", "shared": 2, "url": "https://dantelabs.com/tr/genes/fbxl4" }, { "slug": "lig3", "symbol": "LIG3", "name": "DNA ligase 3", "shared": 2, "url": "https://dantelabs.com/tr/genes/lig3" }, { "slug": "mpv17", "symbol": "MPV17", "name": "mitochondrial inner membrane protein MPV17", "shared": 2, "url": "https://dantelabs.com/tr/genes/mpv17" }, { "slug": "opa1", "symbol": "OPA1", "name": "OPA1 mitochondrial dynamin like GTPase", "shared": 2, "url": "https://dantelabs.com/tr/genes/opa1" }, { "slug": "slc25a4", "symbol": "SLC25A4", "name": "solute carrier family 25 member 4", "shared": 2, "url": "https://dantelabs.com/tr/genes/slc25a4" }, { "slug": "sucla2", "symbol": "SUCLA2", "name": "succinate-CoA ligase ADP-forming subunit beta", "shared": 2, "url": "https://dantelabs.com/tr/genes/sucla2" }, { "slug": "suclg1", "symbol": "SUCLG1", "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha", "shared": 2, "url": "https://dantelabs.com/tr/genes/suclg1" }, { "slug": "twnk", "symbol": "TWNK", "name": "twinkle mtDNA helicase", "shared": 2, "url": "https://dantelabs.com/tr/genes/twnk" }, { "slug": "tymp", "symbol": "TYMP", "name": "thymidine phosphorylase", "shared": 2, "url": "https://dantelabs.com/tr/genes/tymp" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/aars1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }