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"+", "slug": "bbs1" }, { "symbol": "ZDHHC24", "ensemblId": "ENSG00000174165", "biotype": "protein_coding", "start": 66520620, "end": 66546244, "strand": "-", "slug": "zdhhc24" }, { "symbol": "ACTN3", "ensemblId": "ENSG00000248746", "biotype": "protein_coding", "start": 66546395, "end": 66563334, "strand": "+", "slug": "actn3" }, { "symbol": "CTSF", "ensemblId": "ENSG00000174080", "biotype": "protein_coding", "start": 66563462, "end": 66568879, "strand": "-", "slug": "ctsf" }, { "symbol": "CCDC87", "ensemblId": "ENSG00000182791", "biotype": "protein_coding", "start": 66590176, "end": 66593063, "strand": "-", "slug": "ccdc87" }, { "symbol": "CCS", "ensemblId": "ENSG00000173992", "biotype": "protein_coding", "start": 66592843, "end": 66606703, "strand": "+", "slug": "ccs" }, { "symbol": "RBM14", "ensemblId": "ENSG00000239306", "biotype": "protein_coding", "start": 66616594, "end": 66629934, "strand": "+", "slug": "rbm14" }, { "symbol": "RBM14-RBM4", "ensemblId": "ENSG00000248643", "biotype": "protein_coding", "start": 66616626, "end": 66646469, "strand": "+", "slug": "rbm14-rbm4" }, { "symbol": "RBM4", "ensemblId": "ENSG00000173933", "biotype": "protein_coding", "start": 66637771, "end": 66668380, "strand": "+", "slug": "rbm4" }, { "symbol": "RBM4B", "ensemblId": "ENSG00000173914", "biotype": "protein_coding", "start": 66664994, "end": 66677925, "strand": "-", "slug": "rbm4b" }, { "symbol": "TOP6BL", "ensemblId": "ENSG00000173715", "biotype": "protein_coding", "start": 66744451, "end": 66843516, "strand": "+", "slug": "top6bl" }, { "symbol": "RCE1", "ensemblId": "ENSG00000173653", "biotype": "protein_coding", "start": 66842835, "end": 66848159, "strand": "+", "slug": "rce1" }, { "symbol": "PC", "ensemblId": "ENSG00000173599", "biotype": "protein_coding", "start": 66848208, "end": 66958524, "strand": "-", "slug": "pc" }, { "symbol": "LRFN4", "ensemblId": "ENSG00000173621", "biotype": "protein_coding", "start": 66856546, "end": 66860475, "strand": "+", "slug": "lrfn4" }, { "symbol": "C11orf86", "ensemblId": "ENSG00000173237", "biotype": "protein_coding", "start": 66975272, "end": 66977009, "strand": "+", "slug": "c11orf86" }, { "symbol": "SYT12", "ensemblId": "ENSG00000173227", "biotype": "protein_coding", "start": 67006772, "end": 67051110, "strand": "+", "slug": "syt12" }, { "symbol": "RHOD", "ensemblId": "ENSG00000173156", "biotype": "protein_coding", "start": 67056608, "end": 67072044, "strand": "+", "slug": "rhod" }, { "symbol": "KDM2A", "ensemblId": "ENSG00000173120", "biotype": "protein_coding", "start": 67119247, "end": 67258082, "strand": "+", "slug": "kdm2a" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Ataxies cérébelleuses autosomiques dominantes (SCA et DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Ataxie cérébelleuse autosomique dominante", "genes": 36, "inheritance": "autosomal-dominant", "description": "Un groupe d'ataxies à transmission dominante, notamment SCA1, SCA2, SCA3 (maladie de Machado-Joseph), SCA6, SCA7, SCA17, SCA27B et DRPLA, causées par des expansions de répétitions ou des variants ponctuels dans des gènes tels que ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 et FGF14.", "management": "Conseil génétique et test présymptomatique pour les apparentés, kinésithérapie et prise en charge des symptômes ; certaines formes, comme SCA27B, peuvent répondre à un traitement médicamenteux spécifique.", "evidence": { "gencc": [ "ClinGen", "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/autosomal-dominant-cerebellar-ataxias" }, { "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": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/autosomal-recessive-cerebellar-ataxias" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Maladies neurodégénératives héréditaires", "diseases": [ { "mondoId": "MONDO:0024237", "name": "Maladie neurodégénérative liée à KIF5A", "genes": 372, "inheritance": "autosomal-dominant", "description": "Causée par des modifications d'une copie du gène KIF5A, qui code une protéine motrice dotée d'une queue de liaison à sa cargaison. Différents types de modifications entraînent différentes affections : la paraplégie spastique héréditaire de type 10, une forme axonale de la maladie de Charcot-Marie-Tooth et la sclérose latérale amyotrophique (SLA).", "management": "La prise en charge est symptomatique et dépend de la forme clinique ; elle comprend la kinésithérapie, des médicaments contre la spasticité et un suivi pluridisciplinaire de la SLA. Chaque enfant d'une personne atteinte a une chance sur 2 d'hériter de la modification ; le conseil génétique aide les familles à comprendre ce risque.", "evidence": { "gencc": [ "ClinGen", "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "ankle-clonus", "name": "Abnormal rhythmic movements of ankle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ankle-clonus" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "diplopia", "name": "Double vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diplopia" }, { "slug": "gaze-evoked-nystagmus", "name": "Gaze-evoked nystagmus", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus" }, { "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": "horizontal-jerk-nystagmus", "name": "Horizontal jerk nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/horizontal-jerk-nystagmus" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "hypometric-saccades", "name": "Hypometric saccades", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypometric-saccades" }, { "slug": "impaired-smooth-pursuit", "name": "Impaired smooth pursuit", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/impaired-smooth-pursuit" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "incoordination", "name": "Incoordination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/incoordination" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "facial-myokymia", "name": "Involuntary facial quivering", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/facial-myokymia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "jerky-ocular-pursuit-movements", "name": "Jerky ocular pursuit movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/jerky-ocular-pursuit-movements" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "progressive-gait-ataxia", "name": "Progressive gait ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-gait-ataxia" }, { "slug": "rotary-nystagmus", "name": "Rotary nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rotary-nystagmus" }, { "slug": "slurred-speech", "name": "Slurred speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/slurred-speech" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "dysmetric-saccades", "name": "Uncoordinated eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysmetric-saccades" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "upper-motor-neuron-dysfunction", "name": "Upper motor neuron dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/upper-motor-neuron-dysfunction" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-based-gait" } ], "related": [ { "slug": "grm1", "symbol": "GRM1", "name": "glutamate metabotropic receptor 1", "shared": 3, "url": "https://dantelabs.com/fr/genes/grm1" }, { "slug": "stub1", "symbol": "STUB1", "name": "STIP1 homology and U-box containing protein 1", "shared": 3, "url": "https://dantelabs.com/fr/genes/stub1" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/afg3l2" }, { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/ahi1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 2, "url": "https://dantelabs.com/fr/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 2, "url": "https://dantelabs.com/fr/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 2, "url": "https://dantelabs.com/fr/genes/atg7" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 2, "url": "https://dantelabs.com/fr/genes/atp1a3" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 2, "url": "https://dantelabs.com/fr/genes/atp8a2" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 2, "url": "https://dantelabs.com/fr/genes/atxn10" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }