{ "url": "https://dantelabs.com/fr/genes/twnk", "gene": { "slug": "twnk", "symbol": "TWNK", "name": "twinkle mtDNA helicase", "hgnc": "HGNC:1160", "summary": null, "location": "10q24.31", "locusType": "gene with protein product", "aliases": [ "PEO", "PEO1", "TWINKLE", "FLJ21832", "TWINL" ], "previousSymbols": [ "IOSCA", "C10orf2" ], "ensemblId": "ENSG00000107815", "entrezId": 56652, "omim": [ "606075" ], "uniprot": [ "Q96RR1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 100987543, "end": 100994403, "strand": "+", "ensemblTranscript": "ENST00000311916.8", "refseqTranscript": "NM_021830.5", "ensemblProtein": "ENSP00000309595.2", "refseqProtein": "NP_068602.2", "exons": [ { "start": 100987543, "end": 100989453 }, { "start": 100989644, "end": 100989884 }, { "start": 100990436, "end": 100990543 }, { "start": 100990869, "end": 100991010 }, { "start": 100993190, "end": 100994403 } ], "cds": { "start": 100988211, "end": 100993510 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 102747124, "end": 102754158, "strand": "+" }, "neighbourhood": { "release": "116", "start": 100490973, "end": 101490972, "genes": [ { "symbol": "SEC31B", "ensemblId": "ENSG00000075826", "biotype": "protein_coding", "start": 100484998, "end": 100519892, "strand": "-", "slug": "sec31b" }, { "symbol": "", "ensemblId": "ENSG00000255339", "biotype": "protein_coding", "start": 100505628, "end": 100529881, "strand": "-" }, { "symbol": "NDUFB8", "ensemblId": "ENSG00000166136", "biotype": "protein_coding", "start": 100523668, "end": 100530000, "strand": "-", "slug": "ndufb8" }, { "symbol": "HIF1AN", "ensemblId": "ENSG00000166135", "biotype": "protein_coding", "start": 100529072, "end": 100681896, "strand": "+", "slug": "hif1an" }, { "symbol": "PAX2", "ensemblId": "ENSG00000075891", "biotype": "protein_coding", "start": 100735380, "end": 100829944, "strand": "+", "slug": "pax2" }, { "symbol": "SLF2", "ensemblId": "ENSG00000119906", "biotype": "protein_coding", "start": 100912963, "end": 100965134, "strand": "+", "slug": "slf2" }, { "symbol": "MRPL43", "ensemblId": "ENSG00000055950", "biotype": "protein_coding", "start": 100968131, "end": 100990450, "strand": "-", "slug": "mrpl43" }, { "symbol": "SEMA4G", "ensemblId": "ENSG00000095539", "biotype": "protein_coding", "start": 100969493, "end": 100985871, "strand": "+", "slug": "sema4g" }, { "symbol": "LZTS2", "ensemblId": "ENSG00000107816", "biotype": "protein_coding", "start": 100996539, "end": 101007852, "strand": "+", "slug": "lzts2" }, { "symbol": "PDZD7", "ensemblId": "ENSG00000186862", "biotype": "protein_coding", "start": 101007679, "end": 101032295, "strand": "-", "slug": "pdzd7" }, { "symbol": "SFXN3", "ensemblId": "ENSG00000107819", "biotype": "protein_coding", "start": 101031229, "end": 101041244, "strand": "+", "slug": "sfxn3" }, { "symbol": "KAZALD1", "ensemblId": "ENSG00000107821", "biotype": "protein_coding", "start": 101061108, "end": 101068648, "strand": "+", "slug": "kazald1" }, { "symbol": "TLX1", "ensemblId": "ENSG00000107807", "biotype": "protein_coding", "start": 101131011, "end": 101137789, "strand": "+", "slug": "tlx1" }, { "symbol": "LBX1", "ensemblId": "ENSG00000138136", "biotype": "protein_coding", "start": 101226180, "end": 101230401, "strand": "-", "slug": "lbx1" }, { "symbol": "BTRC", "ensemblId": "ENSG00000166167", "biotype": "protein_coding", "start": 101354030, "end": 101557324, "strand": "+", "slug": "btrc" } ], "truncated": false }, "reports": [ { "slug": "female-infertility", "name": "Infertilité féminine", "diseases": [ { "mondoId": "MONDO:0021124", "name": "Infertilité féminine", "genes": 37, "inheritance": null, "description": "Diminution ou absence de la capacité à concevoir chez la femme.", "management": null, "evidence": { "gencc": [ "ClinGen", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/female-infertility" }, { "slug": "primary-mitochondrial-disease", "name": "Maladie mitochondriale primaire", "diseases": [ { "mondoId": "MONDO:0000090", "name": "Ophtalmoplégie externe progressive avec délétions de l'ADN mitochondrial", "genes": 8, "inheritance": null, "description": "Causée par des variants de gènes nucléaires tels que POLG, TWNK, SLC25A4 et RRM2B qui entraînent de multiples délétions de l'ADN mitochondrial, provoquant une chute des paupières, une faiblesse des mouvements oculaires et une faiblesse musculaire, généralement à l'âge adulte.", "management": "Ce résultat guide la surveillance de la fonction oculaire, cardiaque et de la déglutition, ainsi que l'éviction du valproate en cas de maladie liée à POLG.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018158", "name": "Syndrome de déplétion de l'ADN mitochondrial", "genes": 20, "inheritance": null, "description": "Causé par des variants de gènes nucléaires tels que POLG, TWNK, TK2, DGUOK, MPV17, RRM2B et SUCLA2, qui réduisent la quantité d'ADN mitochondrial et peuvent provoquer une maladie musculaire, hépatique ou cérébrale.", "management": "Ce résultat a des implications concrètes : le valproate doit être évité en cas de maladie liée à POLG en raison du risque d'insuffisance hépatique fatale, et le déficit en TK2 dispose d'un traitement par nucléosides.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/primary-mitochondrial-disease" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Ataxies cérébelleuses autosomiques récessives (dont CANVAS et AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Ataxie cérébelleuse autosomique récessive", "genes": 57, "inheritance": "autosomal-recessive", "description": "Un groupe d'ataxies à transmission récessive causées par des variants biallèliques dans des gènes tels que RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 et SYNE1.", "management": "L'ataxie avec déficit en vitamine E (TTPA) peut être traitée par des suppléments de vitamine E ; les autres formes sont prises en charge par la kinésithérapie et des soins visant les symptômes, et un dépistage de porteur peut être proposé aux apparentés.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebellar-cortex-morphology", "name": "Abnormal cerebellar cortex morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cerebellar-cortex-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-thalamic-mri-signal-intensity", "name": "Abnormal thalamic MRI signal intensity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-thalamic-mri-signal-intensity" }, { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "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-movement", "name": "Abnormality of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-movement" }, { "slug": "abnormality-of-the-autonomic-nervous-system", "name": "Abnormality of the autonomic nervous system", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-autonomic-nervous-system" }, { "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": "abnormality-of-the-thyroid-gland", "name": "Abnormality of the thyroid gland", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-thyroid-gland" }, { "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": "obligate", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "atrophy-degeneration-affecting-the-brainstem", "name": "Atrophy/Degeneration affecting the brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/atrophy-degeneration-affecting-the-brainstem" }, { "slug": "atrophy-degeneration-involving-the-spinal-cord", "name": "Atrophy/Degeneration involving the spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrophy-degeneration-involving-the-spinal-cord" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "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": "frequent", "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": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "centrally-nucleated-skeletal-muscle-fibers", "name": "Centrally nucleated skeletal muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers" }, { "slug": "cerebellar-cortical-atrophy", "name": "Cerebellar cortical atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-cortical-atrophy" }, { "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": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "clumsiness", "name": "Clumsiness", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/clumsiness" }, { "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": "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": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "hypogonadism", "name": "Decreased activity of gonads", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypogonadism" }, { "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": "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": "obligate", "url": "https://dantelabs.com/traits/decreased-number-of-large-peripheral-myelinated-nerve-fibers" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "impaired-distal-tactile-sensation", "name": "Decreased touch sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-distal-tactile-sensation" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "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": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dementia" }, { "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": "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": "occasional", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "generalized-amyotrophy", "name": "Diffuse skeletal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-amyotrophy" }, { "slug": "diminished-deep-tendon-reflex", "name": "Diminished deep tendon reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-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": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "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": "elevated-circulating-alanine-aminotransferase-concentration", "name": "Elevated circulating alanine aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration" }, { "slug": "elevated-circulating-aspartate-aminotransferase-concentration", "name": "Elevated circulating aspartate aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration" }, { "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": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "goiter", "name": "Enlarged thyroid gland in neck", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/goiter" }, { "slug": "epilepsia-partialis-continua", "name": "Epilepsia partialis continua", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epilepsia-partialis-continua" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epileptic-encephalopathy", "name": "Epileptic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "excessive-daytime-somnolence", "name": "Excessive daytime sleepiness", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/excessive-daytime-somnolence" }, { "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": "obligate", "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": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fiber-type-grouping", "name": "Fiber type grouping", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fiber-type-grouping" }, { "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": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "generalized-muscle-weakness", "name": "Generalized muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "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": "glucose-intolerance", "name": "Glucose intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glucose-intolerance" }, { "slug": "gonadal-dysgenesis", "name": "Gonadal dysgenesis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/gonadal-dysgenesis" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-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": "very-rare", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "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" ], "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism" }, { "slug": "impaired-distal-proprioception", "name": "Impaired distal proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-distal-proprioception" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "increased-circulating-pyruvate-concentration", "name": "Increased circulating pyruvate concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intestinal-pseudo-obstruction", "name": "Intestinal pseudo-obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-pseudo-obstruction" }, { "slug": "involuntary-movements", "name": "Involuntary movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/involuntary-movements" }, { "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": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysmetria" }, { "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": "limb-muscle-weakness", "name": "Limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "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": "obligate", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "mildly-elevated-creatine-kinase", "name": "Mildly elevated creatine kinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase" }, { "slug": "mitochondrial-myopathy", "name": "Mitochondrial myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitochondrial-myopathy" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "multiple-mitochondrial-dna-deletions", "name": "Multiple mitochondrial DNA deletions", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/multiple-mitochondrial-dna-deletions" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-fiber-necrosis", "name": "Muscle fiber necrosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-fiber-necrosis" }, { "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": "obligate", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "hypernasal-speech", "name": "Nasal speech", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypernasal-speech" }, { "slug": "nocturia", "name": "Nocturia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/nocturia" }, { "slug": "hypoesthesia", "name": "Numbness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoesthesia" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "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": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "diminished-ability-to-concentrate", "name": "Poor concentration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/diminished-ability-to-concentrate" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "positive-romberg-sign", "name": "Positive Romberg sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/positive-romberg-sign" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "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-gait-ataxia", "name": "Progressive gait ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/progressive-gait-ataxia" }, { "slug": "progressive-hearing-impairment", "name": "Progressive hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-hearing-impairment" }, { "slug": "progressive-muscle-weakness", "name": "Progressive muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/progressive-muscle-weakness" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "psychosis", "name": "Psychosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/psychosis" }, { "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": "obligate", "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers" }, { "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": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "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": "retinal-pigment-epithelial-mottling", "name": "Retinal pigment epithelial mottling", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "sensory-ataxia", "name": "Sensory ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensory-ataxia" }, { "slug": "sensory-ataxic-neuropathy", "name": "Sensory ataxic neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensory-ataxic-neuropathy" }, { "slug": "sensory-axonal-neuropathy", "name": "Sensory axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy" }, { "slug": "bradycardia", "name": "Slow heartbeats", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bradycardia" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "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": "subsarcolemmal-accumulations-of-abnormally-shaped-mitochondria", "name": "Subsarcolemmal accumulations of abnormally shaped mitochondria", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/subsarcolemmal-accumulations-of-abnormally-shaped-mitochondria" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "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": "muscle-fibrillation", "name": "Twitching", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-fibrillation" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "upgaze-palsy", "name": "Upgaze palsy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upgaze-palsy" }, { "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": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vomiting" }, { "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": "occasional", "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": "occasional", "url": "https://dantelabs.com/traits/distal-muscle-weakness" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/weight-loss" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/broad-based-gait" }, { "slug": "scapular-winging", "name": "Winged shoulder blade", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scapular-winging" } ], "related": [ { "slug": "dna2", "symbol": "DNA2", "name": "DNA replication helicase/nuclease 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/dna2" }, { "slug": "polg", "symbol": "POLG", "name": "DNA polymerase gamma, catalytic subunit", "shared": 2, "url": "https://dantelabs.com/fr/genes/polg" }, { "slug": "rrm2b", "symbol": "RRM2B", "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "shared": 2, "url": "https://dantelabs.com/fr/genes/rrm2b" }, { "slug": "slc25a4", "symbol": "SLC25A4", "name": "solute carrier family 25 member 4", "shared": 2, "url": "https://dantelabs.com/fr/genes/slc25a4" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/afg3l2" }, { "slug": "agk", "symbol": "AGK", "name": "acylglycerol kinase", "shared": 1, "url": "https://dantelabs.com/fr/genes/agk" }, { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/ahi1" }, { "slug": "ankrd31", "symbol": "ANKRD31", "name": "ankyrin repeat domain 31", "shared": 1, "url": "https://dantelabs.com/fr/genes/ankrd31" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/fr/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 1, "url": "https://dantelabs.com/fr/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 1, "url": "https://dantelabs.com/fr/genes/atg7" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/fr/genes/atm" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }