{ "url": "https://dantelabs.com/es/genes/stub1", "gene": { "slug": "stub1", "symbol": "STUB1", "name": "STIP1 homology and U-box containing protein 1", "hgnc": "HGNC:11427", "summary": null, "location": "16p13.3", "locusType": "gene with protein product", "aliases": [ "UBOX1", "CHIP", "SDCCAG7", "HSPABP2", "NY-CO-7" ], "previousSymbols": [], "ensemblId": "ENSG00000103266", "entrezId": 10273, "omim": [ "607207" ], "uniprot": [ "Q9UNE7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 680410, "end": 682801, "strand": "+", "ensemblTranscript": "ENST00000219548.9", "refseqTranscript": "NM_005861.4", "ensemblProtein": "ENSP00000219548.4", "refseqProtein": "NP_005852.2", "exons": [ { "start": 680410, "end": 680684 }, { "start": 681152, "end": 681350 }, { "start": 681438, "end": 681603 }, { "start": 681793, "end": 681880 }, { "start": 682020, "end": 682076 }, { "start": 682165, "end": 682281 }, { "start": 682364, "end": 682801 } ], "cds": { "start": 680526, "end": 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"capn15" }, { "symbol": "PRR35", "ensemblId": "ENSG00000161992", "biotype": "protein_coding", "start": 559688, "end": 565532, "strand": "+", "slug": "prr35" }, { "symbol": "PIGQ", "ensemblId": "ENSG00000007541", "biotype": "protein_coding", "start": 566995, "end": 584121, "strand": "+", "slug": "pigq" }, { "symbol": "NHLRC4", "ensemblId": "ENSG00000257108", "biotype": "protein_coding", "start": 567000, "end": 569495, "strand": "+", "slug": "nhlrc4" }, { "symbol": "RAB40C", "ensemblId": "ENSG00000197562", "biotype": "protein_coding", "start": 589007, "end": 629348, "strand": "+", "slug": "rab40c" }, { "symbol": "WFIKKN1", "ensemblId": "ENSG00000127578", "biotype": "protein_coding", "start": 629239, "end": 634117, "strand": "+", "slug": "wfikkn1" }, { "symbol": "METTL26", "ensemblId": "ENSG00000130731", "biotype": "protein_coding", "start": 634412, "end": 636378, "strand": "-", "slug": "mettl26" }, { "symbol": "MCRIP2", "ensemblId": "ENSG00000172366", "biotype": "protein_coding", "start": 636817, "end": 648475, "strand": "+", "slug": "mcrip2" }, { "symbol": "WDR90", "ensemblId": "ENSG00000161996", "biotype": "protein_coding", "start": 649287, "end": 667837, "strand": "+", "slug": "wdr90" }, { "symbol": "RHOT2", "ensemblId": "ENSG00000140983", "biotype": "protein_coding", "start": 668081, "end": 674174, "strand": "+", "slug": "rhot2" }, { "symbol": "RHBDL1", "ensemblId": "ENSG00000103269", "biotype": "protein_coding", "start": 675605, "end": 678275, "strand": "+", "slug": "rhbdl1" }, { "symbol": "JMJD8", "ensemblId": "ENSG00000161999", "biotype": "protein_coding", "start": 681666, "end": 684528, "strand": "-", "slug": "jmjd8" }, { "symbol": "WDR24", "ensemblId": "ENSG00000127580", "biotype": "protein_coding", "start": 684614, "end": 690444, "strand": "-", "slug": "wdr24" }, { "symbol": "FBXL16", "ensemblId": "ENSG00000127585", "biotype": "protein_coding", "start": 692498, "end": 705860, "strand": "-", "slug": "fbxl16" }, { "symbol": "METRN", "ensemblId": "ENSG00000103260", "biotype": "protein_coding", "start": 715093, "end": 719796, "strand": "+", "slug": "metrn" }, { "symbol": "ANTKMT", "ensemblId": "ENSG00000103254", "biotype": "protein_coding", "start": 720581, "end": 722590, "strand": "+", "slug": "antkmt" }, { "symbol": "CCDC78", "ensemblId": "ENSG00000162004", "biotype": "protein_coding", "start": 722581, "end": 726954, "strand": "-", "slug": "ccdc78" }, { "symbol": "HAGHL", "ensemblId": "ENSG00000103253", "biotype": "protein_coding", "start": 726494, "end": 735525, "strand": "+", "slug": "haghl" }, { "symbol": "CIAO3", "ensemblId": "ENSG00000103245", "biotype": "protein_coding", "start": 729721, "end": 741329, "strand": "-", "slug": "ciao3" }, { "symbol": "MSLN", "ensemblId": "ENSG00000102854", "biotype": "protein_coding", "start": 760729, "end": 768866, "strand": "+", "slug": "msln" }, { "symbol": "MSLNL", "ensemblId": "ENSG00000162006", "biotype": "protein_coding", "start": 769428, "end": 782054, "strand": "-", "slug": "mslnl" }, { "symbol": "RPUSD1", "ensemblId": "ENSG00000007376", "biotype": "protein_coding", "start": 784974, "end": 788406, "strand": "-", "slug": "rpusd1" }, { "symbol": "CHTF18", "ensemblId": "ENSG00000127586", "biotype": "protein_coding", "start": 788046, "end": 800737, "strand": "+", "slug": "chtf18" }, { "symbol": "GNG13", "ensemblId": "ENSG00000127588", "biotype": "protein_coding", "start": 798020, "end": 800770, "strand": "-", "slug": "gng13" }, { "symbol": "LMF1", "ensemblId": "ENSG00000103227", "biotype": "protein_coding", "start": 853618, "end": 981318, "strand": "-", "slug": "lmf1" }, { "symbol": "SOX8", "ensemblId": "ENSG00000005513", "biotype": "protein_coding", "start": 981444, "end": 986979, "strand": "+", "slug": "sox8" }, { "symbol": "SSTR5", "ensemblId": "ENSG00000162009", "biotype": "protein_coding", "start": 1063867, "end": 1081470, "strand": "+", "slug": "sstr5" }, { "symbol": "C1QTNF8", "ensemblId": "ENSG00000184471", "biotype": "protein_coding", "start": 1088226, "end": 1099401, "strand": "-", "slug": "c1qtnf8" }, { "symbol": "CACNA1H", "ensemblId": "ENSG00000196557", "biotype": "protein_coding", "start": 1153099, "end": 1224169, "strand": "+", "slug": "cacna1h" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Ataxias cerebelosas autosómicas dominantes (SCA y DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Ataxia cerebelosa autosómica dominante", "genes": 36, "inheritance": "autosomal-dominant", "description": "Grupo de ataxias de herencia dominante, entre ellas SCA1, SCA2, SCA3 (enfermedad de Machado-Joseph), SCA6, SCA7, SCA17, SCA27B y DRPLA, causadas por expansiones de repeticiones o variantes puntuales en genes como ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 y FGF14.", "management": "Asesoramiento genético y pruebas presintomáticas para familiares, fisioterapia y manejo de los síntomas; algunas formas, como SCA27B, pueden responder a un tratamiento farmacológico específico.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/es/conditions/autosomal-dominant-cerebellar-ataxias" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Ataxias cerebelosas autosómicas recesivas (incluidas CANVAS y AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Ataxia cerebelosa autosómica recesiva", "genes": 57, "inheritance": "autosomal-recessive", "description": "Grupo de ataxias de herencia recesiva causadas por variantes bialélicas en genes como RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 y SYNE1.", "management": "La ataxia con deficiencia de vitamina E (TTPA) puede tratarse con suplementos de vitamina E; las demás formas se manejan con fisioterapia y tratamiento sintomático, y a los familiares se les puede ofrecer un estudio de portador.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/es/conditions/autosomal-recessive-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-involuntary-eye-movements", "name": "Abnormal involuntary eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-involuntary-eye-movements" }, { "slug": "abnormal-motor-evoked-potentials", "name": "Abnormal motor evoked potentials", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-motor-evoked-potentials" }, { "slug": "ankle-clonus", "name": "Abnormal rhythmic movements of ankle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ankle-clonus" }, { "slug": "abnormal-sella-turcica-morphology", "name": "Abnormal sella turcica morphology", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-sella-turcica-morphology" }, { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chorea" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "corpus-callosum-atrophy", "name": "Corpus callosum atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corpus-callosum-atrophy" }, { "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": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-menarche", "name": "Delayed start of first period", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system", "growth-abnormality" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/delayed-menarche" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depression" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "insomnia", "name": "Difficulty staying or falling asleep", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/insomnia" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "gaze-evoked-nystagmus", "name": "Gaze-evoked nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "hand-tremor", "name": "Hand tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hand-tremor" }, { "slug": "head-tremor", "name": "Head tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/head-tremor" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "hyperactive-deep-tendon-reflexes", "name": "Hyperactive deep tendon reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperactive-deep-tendon-reflexes" }, { "slug": "hypoplasia-of-the-pons", "name": "Hypoplasia of the pons", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons" }, { "slug": "impaired-proprioception", "name": "Impaired proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-proprioception" }, { "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": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "infertility", "name": "Infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/infertility" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "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": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "adducted-thumb", "name": "Inward turned thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/adducted-thumb" }, { "slug": "iridocyclitis", "name": "Iridocyclitis", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/iridocyclitis" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/irritability" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "oligomenorrhea", "name": "Light or infrequent menstrual periods", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/oligomenorrhea" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "arachnodactyly", "name": "Long slender fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arachnodactyly" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "type-ii-diabetes-mellitus", "name": "Noninsulin-dependent diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "pancreatitis", "name": "Pancreatic inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pancreatitis" }, { "slug": "external-ophthalmoplegia", "name": "Paralysis or weakness of muscles within or surrounding outer part of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/external-ophthalmoplegia" }, { "slug": "parietal-cortical-atrophy", "name": "Parietal cortical atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/parietal-cortical-atrophy" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/parkinsonism" }, { "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": "postural-tremor", "name": "Postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postural-tremor" }, { "slug": "progeroid-facial-appearance", "name": "Premature aged appearance", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progeroid-facial-appearance" }, { "slug": "retinal-atrophy", "name": "Retinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/retinal-atrophy" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "speech-apraxia", "name": "Speech apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/speech-apraxia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "type-i-diabetes-mellitus", "name": "Type 1 diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "cachexia", "name": "Wasting syndrome", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cachexia" } ], "related": [ { "slug": "grm1", "symbol": "GRM1", "name": "glutamate metabotropic receptor 1", "shared": 2, "url": "https://dantelabs.com/es/genes/grm1" }, { "slug": "sptbn2", "symbol": "SPTBN2", "name": "spectrin beta, non-erythrocytic 2", "shared": 2, "url": "https://dantelabs.com/es/genes/sptbn2" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/es/genes/afg3l2" }, { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 1, "url": "https://dantelabs.com/es/genes/ahi1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 1, "url": "https://dantelabs.com/es/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 1, "url": "https://dantelabs.com/es/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 1, "url": "https://dantelabs.com/es/genes/atg7" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 1, "url": "https://dantelabs.com/es/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/es/genes/atp1a3" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 1, "url": "https://dantelabs.com/es/genes/atp8a2" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 1, "url": "https://dantelabs.com/es/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 1, "url": "https://dantelabs.com/es/genes/atxn10" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }