{ "url": "https://dantelabs.com/et/genes/tubb3", "gene": { "slug": "tubb3", "symbol": "TUBB3", "name": "tubulin beta 3 class III", "hgnc": "HGNC:20772", "summary": null, "location": "16q24.3", "locusType": "gene with protein product", "aliases": [ "beta-4", "CFEOM3", "CFEOM3A" ], "previousSymbols": [ "FEOM3" ], "ensemblId": "ENSG00000258947", "entrezId": 10381, "omim": [ "602661" ], "uniprot": [ "Q13509" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 89923342, "end": 89936097, "strand": "+", "ensemblTranscript": "ENST00000315491.12", "refseqTranscript": "NM_006086.4", "ensemblProtein": "ENSP00000320295.7", "refseqProtein": "NP_006077.2", "exons": [ { "start": 89923342, "end": 89923458 }, { "start": 89932571, "end": 89932679 }, { "start": 89933468, "end": 89933578 }, { "start": 89934729, "end": 89936097 } ], "cds": { "start": 89923402, "end": 89935804 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 89987800, "end": 90005169, "strand": "+" }, "neighbourhood": { "release": "116", "start": 89429720, "end": 90429719, "genes": [ { "symbol": "ANKRD11", "ensemblId": "ENSG00000167522", "biotype": "protein_coding", "start": 89267619, "end": 89490706, "strand": "-", "slug": "ankrd11" }, { "symbol": "SPG7", "ensemblId": "ENSG00000197912", "biotype": "protein_coding", "start": 89490719, "end": 89557768, "strand": "+", "slug": "spg7" }, { "symbol": "RPL13", "ensemblId": "ENSG00000167526", "biotype": "protein_coding", "start": 89560637, "end": 89567834, "strand": "+", "slug": "rpl13" }, { "symbol": "CPNE7", "ensemblId": "ENSG00000178773", "biotype": "protein_coding", "start": 89575730, "end": 89597247, "strand": "+", "slug": "cpne7" }, { "symbol": "DPEP1", "ensemblId": "ENSG00000015413", "biotype": "protein_coding", "start": 89613308, "end": 89638456, "strand": "+", "slug": "dpep1" }, { "symbol": "CHMP1A", "ensemblId": "ENSG00000131165", "biotype": "protein_coding", "start": 89640816, "end": 89657738, "strand": "-", "slug": "chmp1a" }, { "symbol": "SPATA33", "ensemblId": "ENSG00000167523", "biotype": "protein_coding", "start": 89657740, "end": 89671287, "strand": "+", "slug": "spata33" }, { "symbol": "CDK10", "ensemblId": "ENSG00000185324", "biotype": "protein_coding", "start": 89680737, "end": 89696372, "strand": "+", "slug": "cdk10" }, { "symbol": "SPATA2L", "ensemblId": "ENSG00000158792", "biotype": "protein_coding", "start": 89696357, "end": 89701733, "strand": "-", "slug": "spata2l" }, { "symbol": "VPS9D1", "ensemblId": "ENSG00000075399", "biotype": "protein_coding", "start": 89707128, "end": 89721879, "strand": "-", "slug": "vps9d1" }, { "symbol": "ZNF276", "ensemblId": "ENSG00000158805", "biotype": "protein_coding", "start": 89720400, "end": 89740925, "strand": "+", "slug": "znf276" }, { "symbol": "FANCA", "ensemblId": "ENSG00000187741", "biotype": "protein_coding", "start": 89726683, "end": 89816977, "strand": "-", "slug": "fanca" }, { "symbol": "SPIRE2", "ensemblId": "ENSG00000204991", "biotype": "protein_coding", "start": 89818179, "end": 89871320, "strand": "+", "slug": "spire2" }, { "symbol": "TCF25", "ensemblId": "ENSG00000141002", "biotype": "protein_coding", "start": 89873214, "end": 89913627, "strand": "+", "slug": "tcf25" }, { "symbol": "MC1R", "ensemblId": "ENSG00000258839", "biotype": "protein_coding", "start": 89912119, "end": 89920977, "strand": "+", "slug": "mc1r" }, { "symbol": "", "ensemblId": "ENSG00000198211", "biotype": "protein_coding", "start": 89919165, "end": 89936092, "strand": "+" }, { "symbol": "DEF8", "ensemblId": "ENSG00000140995", "biotype": "protein_coding", "start": 89948014, "end": 89968079, "strand": "+", "slug": "def8" }, { "symbol": "DBNDD1", "ensemblId": "ENSG00000003249", "biotype": "protein_coding", "start": 90004648, "end": 90019890, "strand": "-", "slug": "dbndd1" }, { "symbol": "DRC4", "ensemblId": "ENSG00000141013", "biotype": "protein_coding", "start": 90019629, "end": 90045369, "strand": "+", "slug": "drc4" }, { "symbol": "PRDM7", "ensemblId": "ENSG00000126856", "biotype": "protein_coding", "start": 90056566, "end": 90092072, "strand": "-", "slug": "prdm7" } ], "truncated": false }, "reports": [ { "slug": "complex-cortical-dysplasia-and-frontoparietal-polymicrogyria", "name": "Kompleksne kortikaalne düsplaasia ja frontoparietaalne polümikrogüüria", "diseases": [ { "mondoId": "MONDO:0000904", "name": "Kompleksne kortikaalne düsplaasia koos teiste ajumalformatsioonidega", "genes": 15, "inheritance": null, "description": "Põhjustatud rakkude sisemise toestiku, mikrotuubulite geenide muutustest, mis juhivad närvirakke arenevas ajus nende õigesse kohta. Nende hulka kuuluvad TUBB2B ja KIF26A; KIF26A muutused mõjutavad mõlemat koopiat ja on retsessiivsed.", "management": "Ravi hõlmab krampide ravi, arengu-, füsioteraapia- ja õppetoetust ning toitumise ja silmaliigutuste jälgimist. Geneetiline nõustamine aitab selgitada kordumise riski ning KIF26A puhul on lähisugulastele saadaval kandjatest testimine.", "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/complex-cortical-dysplasia-and-frontoparietal-polymicrogyria" }, { "slug": "congenital-cranial-dysinnervation-disorders", "name": "Kongenitaalsed kraniaalsed düsinnervatsioonihäired", "diseases": [ { "mondoId": "MONDO:0007614", "name": "Silmalihaste kongenitaalne fibroos", "genes": 5, "inheritance": null, "description": "Seisundite rühm, mille põhjustavad muutused geenides nagu KIF21A, TUBB3 ja PHOX2A. Selle puhul on silmaliigutused piiratud ning silmalaud on sageli sünnist alates langenud.", "management": "Geneetiline diagnoos selgitab seisundit, aitab planeerida silmalihaste ja silmalaugude operatsioone ning annab teavet korduva esinemise riski kohta.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/congenital-cranial-dysinnervation-disorders" }, { "slug": "tubulinopathies-tuba1a-tubb2a-tubb3", "name": "Tubulinopatiad", "diseases": [ { "mondoId": "MONDO:0100154", "name": "TUBB3-seotud tubulinopaatia", "genes": 2, "inheritance": "autosomal-dominant", "description": "Põhjustatud ühe TUBB3 geeni koopia muutusest. TUBB3 on beeta-tubuliin, mida leidub peamiselt närvirakkudes. Siia on lisatud ka sarnane geen TUBB. Muutused võivad tekkida de novo.", "management": "Silmauuring, vajadusel kõõrsilmsuse või silmalau langemise kirurgiline ravi ning arengu- ja neuroloogiline toetus. Geneetiline nõustamine hõlmab muutuse edasikandumise 1 : 2 võimalust ning vanemate testimist juhul, kui muutus tundub uus.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0100153", "name": "Tubulinopaatia (TUBA1A, TUBB2A)", "genes": 4, "inheritance": "autosomal-dominant", "description": "Põhjustatud ühe tubuliini geeni, näiteks TUBA1A või TUBB2A, koopia muutusest. Need geenid kodeerivad mikrotuubulite ehitusplokke, mis on vajalikud närvirakkude liikumiseks. Muutused tekivad tavaliselt de novo ning muudavad valku, selle eemaldamise asemel.", "management": "Krampide ravi, füsioteraapia, toitmine ja arengutoetus neuroloogi juhendamisel. Enamik juhtumeid tekib de novo, seega annavad geneetilise nõustamise ja vanemate testimine teavet korduva esinemise riski kohta.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/tubulinopathies-tuba1a-tubb2a-tubb3" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-autonomic-nervous-system-physiology", "name": "Abnormal autonomic nervous system physiology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology" }, { "slug": "abnormal-basal-ganglia-morphology", "name": "Abnormal basal ganglia morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-morphology" }, { "slug": "abnormal-best-corrected-visual-acuity-test", "name": "Abnormal best corrected visual acuity test", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-best-corrected-visual-acuity-test" }, { "slug": "abnormal-cerebellar-vermis-morphology", "name": "Abnormal cerebellar vermis morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cerebellar-vermis-morphology" }, { "slug": "abnormal-corpus-callosum-morphology", "name": "Abnormal corpus callosum morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-corpus-callosum-morphology" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-involuntary-eye-movements", "name": "Abnormal involuntary eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-involuntary-eye-movements" }, { "slug": "abnormal-morphology-of-the-olfactory-bulb", "name": "Abnormal morphology of the olfactory bulb", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-morphology-of-the-olfactory-bulb" }, { "slug": "abnormal-saccadic-eye-movements", "name": "Abnormal saccadic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-saccadic-eye-movements" }, { "slug": "abnormal-brainstem-morphology", "name": "Abnormal shape of brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology" }, { "slug": "abnormal-thalamus-morphology", "name": "Abnormal thalamus morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-thalamus-morphology" }, { "slug": "abnormal-visual-field-test", "name": "Abnormal visual field test", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-visual-field-test" }, { "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-ocular-abduction", "name": "Abnormality of ocular abduction", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-ocular-abduction" }, { "slug": "abnormality-of-refraction", "name": "Abnormality of refraction", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-refraction" }, { "slug": "abnormality-of-the-internal-capsule", "name": "Abnormality of the internal capsule", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-internal-capsule" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-bell-phenomenon", "name": "Absent Bell phenomenon", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/absent-bell-phenomenon" }, { "slug": "finger-aplasia", "name": "Absent fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/finger-aplasia" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "agenesis-of-the-anterior-commissure", "name": "Agenesis of the anterior commissure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agenesis-of-the-anterior-commissure" }, { "slug": "agyria", "name": "Agyria", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agyria" }, { "slug": "aplasia-of-the-olfactory-bulb", "name": "Aplasia of the olfactory bulb", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-of-the-olfactory-bulb" }, { "slug": "anisocoria", "name": "Asymmetric pupil sizes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anisocoria" }, { "slug": "plagiocephaly", "name": "Asymmetry of the posterior head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/plagiocephaly" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "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": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "generalized-non-motor-absence-seizure", "name": "Brief seizures with staring spells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "impaired-mastication", "name": "Chewing difficulties", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-mastication" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "expressive-language-delay", "name": "Communication delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/expressive-language-delay" }, { "slug": "compensatory-chin-elevation", "name": "Compensatory chin elevation", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/compensatory-chin-elevation" }, { "slug": "congenital-fibrosis-of-extraocular-muscles", "name": "Congenital fibrosis of extraocular muscles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/congenital-fibrosis-of-extraocular-muscles" }, { "slug": "congenital-sensorineural-hearing-impairment", "name": "Congenital sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment" }, { "slug": "miosis", "name": "Constricted pupils", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/miosis" }, { "slug": "cortical-dysplasia", "name": "Cortical dysplasia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cortical-dysplasia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "delayed-ability-to-sit", "name": "Delayed ability to sit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-sit" }, { "slug": "delayed-fine-motor-development", "name": "Delayed fine motor development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-fine-motor-development" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "delayed-early-childhood-social-milestone-development", "name": "Delayed social development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-early-childhood-social-milestone-development" }, { "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": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "insomnia", "name": "Difficulty staying or falling asleep", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/insomnia" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dysgenesis-of-the-basal-ganglia", "name": "Dysgenesis of the basal ganglia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysgenesis-of-the-basal-ganglia" }, { "slug": "dysgenesis-of-the-hippocampus", "name": "Dysgenesis of the hippocampus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysgenesis-of-the-hippocampus" }, { "slug": "dysgyria", "name": "Dysgyria", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysgyria" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "pachygyria", "name": "Fewer and broader ridges in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pachygyria" }, { "slug": "lissencephaly", "name": "Fewer or absent grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lissencephaly" }, { "slug": "flat-occiput", "name": "Flat back of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flat-occiput" }, { "slug": "metatarsus-adductus", "name": "Front half of foot turns inward", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metatarsus-adductus" }, { "slug": "frontal-polymicrogyria", "name": "Frontal polymicrogyria", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frontal-polymicrogyria" }, { "slug": "fusion-of-the-caudate-and-putamen", "name": "Fusion of the caudate and putamen", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fusion-of-the-caudate-and-putamen" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "grasp-reflex", "name": "Grasp reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/grasp-reflex" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "hypoplasia-of-the-olfactory-bulb", "name": "Hypoplasia of the olfactory bulb", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-olfactory-bulb" }, { "slug": "hypoplasia-of-the-pons", "name": "Hypoplasia of the pons", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons" }, { "slug": "hypoplastic-anterior-commissure", "name": "Hypoplastic anterior commissure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplastic-anterior-commissure" }, { "slug": "impaired-ocular-adduction", "name": "Impaired ocular adduction", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/impaired-ocular-adduction" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "infantile-spasms", "name": "Infantile spasms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/infantile-spasms" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "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": "esotropia", "name": "Inward turning cross eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/esotropia" }, { "slug": "abnormal-pupil-shape", "name": "Irregular pupil", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pupil-shape" }, { "slug": "joint-contracture-of-the-hand", "name": "Joint contracture of the hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-contracture-of-the-hand" }, { "slug": "genu-valgum", "name": "Knock knees", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/genu-valgum" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "large-basal-ganglia", "name": "Large basal ganglia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/large-basal-ganglia" }, { "slug": "lateral-ventricle-dilatation", "name": "Lateral ventricle dilatation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "levator-palpebrae-superioris-atrophy", "name": "Levator palpebrae superioris atrophy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/levator-palpebrae-superioris-atrophy" }, { "slug": "limited-vertical-extraocular-movement", "name": "Limited vertical extraocular movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limited-vertical-extraocular-movement" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micrognathia" }, { "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" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "marcus-gunn-jaw-winking-synkinesis", "name": "Marcus Gunn jaw winking synkinesis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/marcus-gunn-jaw-winking-synkinesis" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "nonprogressive-restrictive-external-ophthalmoplegia", "name": "Nonprogressive restrictive external ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nonprogressive-restrictive-external-ophthalmoplegia" }, { "slug": "normal-pressure-hydrocephalus", "name": "Normal pressure hydrocephalus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/normal-pressure-hydrocephalus" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "optic-nerve-hypoplasia", "name": "Optic nerve hypoplasia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "cubitus-valgus", "name": "Outward turned elbows", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cubitus-valgus" }, { "slug": "partial-agenesis-of-the-corpus-callosum", "name": "Partial agenesis of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "reduced-social-responsiveness", "name": "Poor social interactions", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-social-responsiveness" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "motor-stereotypy", "name": "Repetitive movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-stereotypy" }, { "slug": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "short-attention-span", "name": "Short attention span", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-attention-span" }, { "slug": "short-foot", "name": "Short foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-foot" }, { "slug": "simplified-gyral-pattern", "name": "Simplified gyral pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/simplified-gyral-pattern" }, { "slug": "slow-pupillary-light-response", "name": "Slow pupillary light response", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/slow-pupillary-light-response" }, { "slug": "small-basal-ganglia", "name": "Small basal ganglia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-basal-ganglia" }, { "slug": "hypoplasia-of-the-brainstem", "name": "Small brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "primary-microcephaly", "name": "Small head present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/primary-microcephaly" }, { "slug": "spastic-ataxia", "name": "Spastic ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-ataxia" }, { "slug": "spastic-diplegia", "name": "Spastic diplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-diplegia" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "startle-induced-seizure", "name": "Startle-induced seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/startle-induced-seizure" }, { "slug": "superior-rectus-atrophy", "name": "Superior rectus atrophy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/superior-rectus-atrophy" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "thoracic-scoliosis", "name": "Thoracic scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thoracic-scoliosis" }, { "slug": "type-ii-lissencephaly", "name": "Type II lissencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/type-ii-lissencephaly" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "wrist-flexion-contracture", "name": "Wrist flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wrist-flexion-contracture" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [ { "slug": "tuba1a", "symbol": "TUBA1A", "name": "tubulin alpha 1a", "shared": 3, "url": "https://dantelabs.com/et/genes/tuba1a" }, { "slug": "tubb", "symbol": "TUBB", "name": "tubulin beta class 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"name": "dynein cytoplasmic 1 heavy chain 1", "shared": 1, "url": "https://dantelabs.com/et/genes/dync1h1" }, { "slug": "kif21a", "symbol": "KIF21A", "name": "kinesin family member 21A", "shared": 1, "url": "https://dantelabs.com/et/genes/kif21a" }, { "slug": "kif26a", "symbol": "KIF26A", "name": "kinesin family member 26A", "shared": 1, "url": "https://dantelabs.com/et/genes/kif26a" }, { "slug": "kif2a", "symbol": "KIF2A", "name": "kinesin family member 2A", "shared": 1, "url": "https://dantelabs.com/et/genes/kif2a" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }