{ "url": "https://dantelabs.com/ro/genes/tubb4a", "gene": { "slug": "tubb4a", "symbol": "TUBB4A", "name": "tubulin beta 4A class IVa", "hgnc": "HGNC:20774", "summary": null, "location": "19p13.3", "locusType": "gene with protein product", "aliases": [ "beta-5" ], "previousSymbols": [ "TUBB4", "DYT4" ], "ensemblId": "ENSG00000104833", "entrezId": 10382, "omim": [ "602662" ], "uniprot": [ "P04350" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 6494319, "end": 6502309, "strand": "-", "ensemblTranscript": "ENST00000264071.7", "refseqTranscript": "NM_006087.4", "ensemblProtein": "ENSP00000264071.1", "refseqProtein": "NP_006078.2", "exons": [ { "start": 6494319, "end": 6496221 }, { "start": 6501287, "end": 6501397 }, { "start": 6501515, "end": 6501623 }, { "start": 6502156, "end": 6502309 } ], "cds": { "start": 6495164, "end": 6502212 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 6494330, "end": 6502859, "strand": "-" }, "neighbourhood": { "release": "116", "start": 5998314, "end": 6998313, "genes": [ { "symbol": "RFX2", "ensemblId": "ENSG00000087903", "biotype": "protein_coding", "start": 5993164, "end": 6199572, "strand": "-", "slug": "rfx2" }, { "symbol": "ACSBG2", "ensemblId": "ENSG00000130377", "biotype": "protein_coding", "start": 6135247, "end": 6193094, "strand": "+", "slug": "acsbg2" }, { "symbol": "MLLT1", "ensemblId": "ENSG00000130382", "biotype": "protein_coding", "start": 6210377, "end": 6280029, "strand": "-", "slug": "mllt1" }, { "symbol": "ACER1", "ensemblId": "ENSG00000167769", "biotype": "protein_coding", "start": 6306030, "end": 6333612, "strand": "-", "slug": "acer1" }, { "symbol": "CLPP", "ensemblId": "ENSG00000125656", "biotype": "protein_coding", "start": 6361427, "end": 6370242, "strand": "+", "slug": "clpp" }, { "symbol": "ALKBH7", "ensemblId": "ENSG00000125652", "biotype": "protein_coding", "start": 6372715, "end": 6377261, "strand": "+", "slug": "alkbh7" }, { "symbol": "PSPN", "ensemblId": "ENSG00000125650", "biotype": "protein_coding", "start": 6375148, "end": 6379058, "strand": "-", "slug": "pspn" }, { "symbol": "GTF2F1", "ensemblId": "ENSG00000125651", "biotype": "protein_coding", "start": 6379545, "end": 6393981, "strand": "-", "slug": "gtf2f1" }, { "symbol": "KHSRP", "ensemblId": "ENSG00000088247", "biotype": "protein_coding", "start": 6413102, "end": 6424824, "strand": "-", "slug": "khsrp" }, { "symbol": "SLC25A41", "ensemblId": "ENSG00000181240", "biotype": "protein_coding", "start": 6426037, "end": 6433779, "strand": "-", "slug": "slc25a41" }, { "symbol": "SLC25A23", "ensemblId": "ENSG00000125648", "biotype": "protein_coding", "start": 6436068, "end": 6465203, "strand": "-", "slug": "slc25a23" }, { "symbol": "CRB3", "ensemblId": "ENSG00000130545", "biotype": "protein_coding", "start": 6463777, "end": 6467239, "strand": "+", "slug": "crb3" }, { "symbol": "DENND1C", "ensemblId": "ENSG00000205744", "biotype": "protein_coding", "start": 6467207, "end": 6482557, "strand": "-", "slug": "dennd1c" }, { "symbol": "TNFSF9", "ensemblId": "ENSG00000125657", "biotype": "protein_coding", "start": 6530985, "end": 6535926, "strand": "+", "slug": "tnfsf9" }, { "symbol": "CD70", "ensemblId": "ENSG00000125726", "biotype": "protein_coding", "start": 6583183, "end": 6604103, "strand": "-", "slug": "cd70" }, { "symbol": "TNFSF14", "ensemblId": "ENSG00000125735", "biotype": "protein_coding", "start": 6658085, "end": 6670621, "strand": "-", "slug": "tnfsf14" }, { "symbol": "C3", "ensemblId": "ENSG00000125730", "biotype": "protein_coding", "start": 6677704, "end": 6730562, "strand": "-", "slug": "c3" }, { "symbol": "GPR108", "ensemblId": "ENSG00000125734", "biotype": "protein_coding", "start": 6729914, "end": 6737665, "strand": "-", "slug": "gpr108" }, { "symbol": "TRIP10", "ensemblId": "ENSG00000125733", "biotype": "protein_coding", "start": 6737925, "end": 6751530, "strand": "+", "slug": "trip10" }, { "symbol": "SH2D3A", "ensemblId": "ENSG00000125731", "biotype": "protein_coding", "start": 6751899, "end": 6768109, "strand": "-", "slug": "sh2d3a" }, { "symbol": "VAV1", "ensemblId": "ENSG00000141968", "biotype": "protein_coding", "start": 6772676, "end": 6857366, "strand": "+", "slug": "vav1" }, { "symbol": "ADGRE1", "ensemblId": "ENSG00000174837", "biotype": "protein_coding", "start": 6887530, "end": 6940459, "strand": "+", "slug": "adgre1" } ], "truncated": false }, "reports": [ { "slug": "dystonia-myotonia-paroxysmal-dyskinesia", "name": "Distonie, miotonie, discinezie paroxistică", "diseases": [ { "mondoId": "MONDO:0044807", "name": "Distonie ereditare", "genes": 34, "inheritance": null, "description": "Termen general care acoperă distoniile ereditare, inclusiv distonia generalizată cu debut precoce DYT-TOR1A, DYT-THAP1, mioclonia-distonia (SGCE) și distonia asociată cu KMT2B.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/dystonia-myotonia-paroxysmal-dyskinesia" }, { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Boala Pelizaeus-Merzbacher și leucodistrofii hipomielinizante", "diseases": [ { "mondoId": "MONDO:0012905", "name": "Hipomielinizare cu atrofie a ganglionilor bazali și a cerebelului (H-ABC, TUBB4A)", "genes": 1, "inheritance": "autosomal-dominant", "description": "De obicei, modificările noi din TUBB4A provoacă hipomielinizare cu probleme de mișcare, precum distonie, rigiditate și ataxie, care încep în sugariciu sau în copilăria mică.", "management": null, "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Alte leucodistrofii ereditare", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leucodistrofie (alte tipuri și tipuri nespecificate)", "genes": 80, "inheritance": null, "description": "Afecțiuni ereditare care deteriorează sau împiedică formarea normală a mielinei, adică a substanței albe a creierului și a măduvei spinării. Tipurile diferite urmează moștenire autozomal recesivă, autozomal dominantă sau legată de cromozomul X, în funcție de genele implicate.", "management": "Cunoașterea cauzei genetice specifice poate pune capăt unei căutări de diagnostic, poate ghida îngrijirea de susținere și monitorizarea, poate arăta dacă există un tratament specific și poate permite testarea rudelor.", "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ro/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "cerebral-hypomyelination", "name": "Cerebral hypomyelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-hypomyelination" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "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": "frequent", "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": "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": "occasional", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "eunuchoid-habitus", "name": "Eunuchoid habitus", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eunuchoid-habitus" }, { "slug": "blepharospasm", "name": "Eyelid spasm", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blepharospasm" }, { "slug": "generalized-dystonia", "name": "Generalized dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-dystonia" }, { "slug": "hemidystonia", "name": "Hemidystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemidystonia" }, { "slug": "hypometric-saccades", "name": "Hypometric saccades", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypometric-saccades" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "involuntary-movements", "name": "Involuntary movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/involuntary-movements" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "laryngeal-dystonia", "name": "Laryngeal dystonia", "systems": [ "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/laryngeal-dystonia" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "limb-dystonia", "name": "Limb dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limb-dystonia" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "movement-abnormality-of-the-tongue", "name": "Movement abnormality of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/movement-abnormality-of-the-tongue" }, { "slug": "narrow-face", "name": "Narrow face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-face" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "open-mouth", "name": "Open mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/open-mouth" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "slender-build", "name": "Slender build", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/slender-build" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "sunken-cheeks", "name": "Sunken cheeks", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sunken-cheeks" }, { "slug": "torsion-dystonia", "name": "Torsion dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/torsion-dystonia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "upper-limb-postural-tremor", "name": "Upper limb postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upper-limb-postural-tremor" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/ro/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/ro/genes/acer3" }, { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/ro/genes/actb" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/ro/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/ro/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/ro/genes/aldh3a2" }, { "slug": "ano3", "symbol": "ANO3", "name": "anoctamin 3", "shared": 1, "url": "https://dantelabs.com/ro/genes/ano3" }, { "slug": "arfgef3", "symbol": "ARFGEF3", "name": "ARFGEF family member 3", "shared": 1, "url": "https://dantelabs.com/ro/genes/arfgef3" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/ro/genes/arsa" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }