{
  "url": "https://dantelabs.com/nl/genes/tuba1a",
  "gene": {
    "slug": "tuba1a",
    "symbol": "TUBA1A",
    "name": "tubulin alpha 1a",
    "hgnc": "HGNC:20766",
    "summary": null,
    "location": "12q13.12",
    "locusType": "gene with protein product",
    "aliases": [
      "TUBA3",
      "B-ALPHA-1",
      "FLJ25113"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167552",
    "entrezId": 7846,
    "omim": [
      "602529"
    ],
    "uniprot": [
      "Q71U36"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 49184795,
      "end": 49189080,
      "strand": "-",
      "ensemblTranscript": "ENST00000301071.12",
      "refseqTranscript": "NM_006009.4",
      "ensemblProtein": "ENSP00000301071.7",
      "refseqProtein": "NP_006000.2",
      "exons": [
        {
          "start": 49184795,
          "end": 49185990
        },
        {
          "start": 49186310,
          "end": 49186458
        },
        {
          "start": 49186611,
          "end": 49186833
        },
        {
          "start": 49188977,
          "end": 49189080
        }
      ],
      "cds": {
        "start": 49185010,
        "end": 49188979
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 49578579,
      "end": 49583107,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 48686938,
      "end": 49686937,
      "genes": [
        {
          "symbol": "CCNT1",
          "ensemblId": "ENSG00000129315",
          "biotype": "protein_coding",
          "start": 48687601,
          "end": 48716998,
          "strand": "-",
          "slug": "ccnt1"
        },
        {
          "symbol": "SPMIP11",
          "ensemblId": "ENSG00000257987",
          "biotype": "protein_coding",
          "start": 48727435,
          "end": 48765790,
          "strand": "+",
          "slug": "spmip11"
        },
        {
          "symbol": "ADCY6",
          "ensemblId": "ENSG00000174233",
          "biotype": "protein_coding",
          "start": 48766191,
          "end": 48789906,
          "strand": "-",
          "slug": "adcy6"
        },
        {
          "symbol": "CACNB3",
          "ensemblId": "ENSG00000167535",
          "biotype": "protein_coding",
          "start": 48813794,
          "end": 48828942,
          "strand": "+",
          "slug": "cacnb3"
        },
        {
          "symbol": "DDX23",
          "ensemblId": "ENSG00000174243",
          "biotype": "protein_coding",
          "start": 48829756,
          "end": 48852842,
          "strand": "-",
          "slug": "ddx23"
        },
        {
          "symbol": "RND1",
          "ensemblId": "ENSG00000172602",
          "biotype": "protein_coding",
          "start": 48857134,
          "end": 48865870,
          "strand": "-",
          "slug": "rnd1"
        },
        {
          "symbol": "ARF3",
          "ensemblId": "ENSG00000134287",
          "biotype": "protein_coding",
          "start": 48903141,
          "end": 48957531,
          "strand": "-",
          "slug": "arf3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272822",
          "biotype": "protein_coding",
          "start": 48903503,
          "end": 48957365,
          "strand": "-"
        },
        {
          "symbol": "DRC2",
          "ensemblId": "ENSG00000139537",
          "biotype": "protein_coding",
          "start": 48904105,
          "end": 48931840,
          "strand": "+",
          "slug": "drc2"
        },
        {
          "symbol": "FKBP11",
          "ensemblId": "ENSG00000134285",
          "biotype": "protein_coding",
          "start": 48921518,
          "end": 48927909,
          "strand": "-",
          "slug": "fkbp11"
        },
        {
          "symbol": "WNT10B",
          "ensemblId": "ENSG00000169884",
          "biotype": "protein_coding",
          "start": 48965185,
          "end": 48972669,
          "strand": "-",
          "slug": "wnt10b"
        },
        {
          "symbol": "WNT1",
          "ensemblId": "ENSG00000125084",
          "biotype": "protein_coding",
          "start": 48978322,
          "end": 48982620,
          "strand": "+",
          "slug": "wnt1"
        },
        {
          "symbol": "DDN",
          "ensemblId": "ENSG00000181418",
          "biotype": "protein_coding",
          "start": 48995149,
          "end": 48999375,
          "strand": "-",
          "slug": "ddn"
        },
        {
          "symbol": "PRKAG1",
          "ensemblId": "ENSG00000181929",
          "biotype": "protein_coding",
          "start": 49002272,
          "end": 49018820,
          "strand": "-",
          "slug": "prkag1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288710",
          "biotype": "protein_coding",
          "start": 49002274,
          "end": 49024075,
          "strand": "-"
        },
        {
          "symbol": "KMT2D",
          "ensemblId": "ENSG00000167548",
          "biotype": "protein_coding",
          "start": 49018975,
          "end": 49060794,
          "strand": "-",
          "slug": "kmt2d"
        },
        {
          "symbol": "RHEBL1",
          "ensemblId": "ENSG00000167550",
          "biotype": "protein_coding",
          "start": 49064675,
          "end": 49070127,
          "strand": "-",
          "slug": "rhebl1"
        },
        {
          "symbol": "DHH",
          "ensemblId": "ENSG00000139549",
          "biotype": "protein_coding",
          "start": 49086656,
          "end": 49094807,
          "strand": "-",
          "slug": "dhh"
        },
        {
          "symbol": "LMBR1L",
          "ensemblId": "ENSG00000139636",
          "biotype": "protein_coding",
          "start": 49096550,
          "end": 49110900,
          "strand": "-",
          "slug": "lmbr1l"
        },
        {
          "symbol": "TUBA1B",
          "ensemblId": "ENSG00000123416",
          "biotype": "protein_coding",
          "start": 49127780,
          "end": 49131398,
          "strand": "-",
          "slug": "tuba1b"
        },
        {
          "symbol": "TUBA1C",
          "ensemblId": "ENSG00000167553",
          "biotype": "protein_coding",
          "start": 49188736,
          "end": 49274600,
          "strand": "+",
          "slug": "tuba1c"
        },
        {
          "symbol": "PRPH",
          "ensemblId": "ENSG00000135406",
          "biotype": "protein_coding",
          "start": 49295141,
          "end": 49298686,
          "strand": "+",
          "slug": "prph"
        },
        {
          "symbol": "TROAP",
          "ensemblId": "ENSG00000135451",
          "biotype": "protein_coding",
          "start": 49323165,
          "end": 49331735,
          "strand": "+",
          "slug": "troap"
        },
        {
          "symbol": "C1QL4",
          "ensemblId": "ENSG00000186897",
          "biotype": "protein_coding",
          "start": 49332409,
          "end": 49337227,
          "strand": "-",
          "slug": "c1ql4"
        },
        {
          "symbol": "DNAJC22",
          "ensemblId": "ENSG00000178401",
          "biotype": "protein_coding",
          "start": 49345607,
          "end": 49357546,
          "strand": "+",
          "slug": "dnajc22"
        },
        {
          "symbol": "SPATS2",
          "ensemblId": "ENSG00000123352",
          "biotype": "protein_coding",
          "start": 49366240,
          "end": 49528438,
          "strand": "+",
          "slug": "spats2"
        },
        {
          "symbol": "KCNH3",
          "ensemblId": "ENSG00000135519",
          "biotype": "protein_coding",
          "start": 49539020,
          "end": 49558346,
          "strand": "+",
          "slug": "kcnh3"
        },
        {
          "symbol": "MCRS1",
          "ensemblId": "ENSG00000187778",
          "biotype": "protein_coding",
          "start": 49556544,
          "end": 49568150,
          "strand": "-",
          "slug": "mcrs1"
        },
        {
          "symbol": "PRPF40B",
          "ensemblId": "ENSG00000110844",
          "biotype": "protein_coding",
          "start": 49568218,
          "end": 49644666,
          "strand": "+",
          "slug": "prpf40b"
        },
        {
          "symbol": "FAM186B",
          "ensemblId": "ENSG00000135436",
          "biotype": "protein_coding",
          "start": 49582885,
          "end": 49605639,
          "strand": "-",
          "slug": "fam186b"
        },
        {
          "symbol": "FMNL3",
          "ensemblId": "ENSG00000161791",
          "biotype": "protein_coding",
          "start": 49636499,
          "end": 49708165,
          "strand": "-",
          "slug": "fmnl3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "complex-cortical-dysplasia-and-frontoparietal-polymicrogyria",
        "name": "Complexe corticale dysplasie en frontoparietale polymicrogyrie",
        "diseases": [
          {
            "mondoId": "MONDO:0000904",
            "name": "Complexe corticale dysplasie met andere hersenmissvormingen",
            "genes": 15,
            "inheritance": null,
            "description": "Wordt veroorzaakt door veranderingen in genen voor microtubuli, de inwendige steunstructuur van de cel, die zenuwcellen naar hun plaats in de zich ontwikkelende hersenen leiden. Hierbij horen TUBB2B en KIF26A; veranderingen in KIF26A treffen beide kopieën en zijn recessief.",
            "management": "Zorg omvat behandeling van epileptische aanvallen, ontwikkelings-, fysiotherapeutische en onderwijsondersteuning, en controle van voeding en oogbewegingen. Erfelijkheidsadvies helpt het herhalingsrisico te verduidelijken; bij KIF26A is draagerstesting voor familieleden beschikbaar.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/complex-cortical-dysplasia-and-frontoparietal-polymicrogyria"
      },
      {
        "slug": "congenital-cranial-dysinnervation-disorders",
        "name": "Aangeboren craniale dysinnervatiestoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0007614",
            "name": "Congenitale fibrose van de extraoculaire spieren",
            "genes": 5,
            "inheritance": null,
            "description": "Een groep aandoeningen, veroorzaakt door veranderingen in genen zoals KIF21A, TUBB3 en PHOX2A, waarbij de oogbewegingen beperkt zijn en de oogleden vaak vanaf de geboorte hangen.",
            "management": "Een genetische diagnose verklaart de aandoening, kan helpen bij het plannen van operaties aan de oogspieren en ooglid en geeft inzicht in het herhalingsrisico.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/congenital-cranial-dysinnervation-disorders"
      },
      {
        "slug": "lissencephaly-spectrum-disorders",
        "name": "Lissencefalie-spectrumstoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0018838",
            "name": "Lissencefalie-spectrumstoornissen",
            "genes": 23,
            "inheritance": null,
            "description": "Veroorzaakt door veranderingen in genen die bepalen hoe zenuwcellen zich in de zich ontwikkelende hersenen op hun plaats begeven. Dit rapport omvat DCX op het X-chromosoom en APC2 (recessief).",
            "management": "De zorg richt zich op de behandeling van epileptische aanvallen, voeding, fysiotherapie en ontwikkelingsondersteuning. Erfelijkheidsadvies hangt af van het gen: dominante veranderingen ontstaan vaak de novo, DCX kan worden overgeërfd van een draagster-moeder, en recessieve vormen worden doorgegeven door twee draagster-ouders.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/lissencephaly-spectrum-disorders"
      },
      {
        "slug": "tubulinopathies-tuba1a-tubb2a-tubb3",
        "name": "Tubulinopathieën",
        "diseases": [
          {
            "mondoId": "MONDO:0100153",
            "name": "Tubulinopathie (TUBA1A, TUBB2A)",
            "genes": 4,
            "inheritance": "autosomal-dominant",
            "description": "Veroorzaakt door een verandering in één kopie van een tubulinegen zoals TUBA1A of TUBB2A, die bouwstenen coderen van microtubuli die nodig zijn voor de migratie van zenuwcellen. Veranderingen ontstaan meestal de novo en veranderen het eiwit, in plaats van het weg te laten vallen.",
            "management": "Behandeling van epileptische aanvallen, fysiotherapie, voeding en ontwikkelingsondersteuning onder begeleiding van een neuroloog. De meeste gevallen ontstaan de novo, daarom geeft erfelijkheidsadvies en onderzoek bij de ouders inzicht in het herhalingsrisico.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/tubulinopathies-tuba1a-tubb2a-tubb3"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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-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-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-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": "absent-palmar-crease",
        "name": "Absent palm lines",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-palmar-crease"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "agyria",
        "name": "Agyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agyria"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "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": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "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": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "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": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "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": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "dilated-fourth-ventricle",
        "name": "Dilated fourth ventricle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-fourth-ventricle"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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": "very-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": "frequent",
        "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": "dysplastic-corpus-callosum",
        "name": "Dysplastic corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysplastic-corpus-callosum"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "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": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-tonic-seizure",
        "name": "Generalized tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-tonic-seizure"
      },
      {
        "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": "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": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "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-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-limbs-of-the-internal-capsule",
        "name": "Hypoplastic anterior limbs of the internal capsule",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-anterior-limbs-of-the-internal-capsule"
      },
      {
        "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": "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": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-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": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "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": "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": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "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": "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": "partial-agenesis-of-the-corpus-callosum",
        "name": "Partial agenesis of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum"
      },
      {
        "slug": "perisylvian-polymicrogyria",
        "name": "Perisylvian polymicrogyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perisylvian-polymicrogyria"
      },
      {
        "slug": "periventricular-laminar-heterotopia",
        "name": "Periventricular laminar heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periventricular-laminar-heterotopia"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "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": "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": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "hypoplastic-hippocampus",
        "name": "Small hippocampus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-hippocampus"
      },
      {
        "slug": "microretrognathia",
        "name": "Small retruded chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microretrognathia"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "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": "intestinal-hypoplasia",
        "name": "Underdeveloped instestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intestinal-hypoplasia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "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": "tubb3",
        "symbol": "TUBB3",
        "name": "tubulin beta 3 class III",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/tubb3"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "name": "APC regulator of Wnt signaling pathway 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/apc2"
      },
      {
        "slug": "ctnna2",
        "symbol": "CTNNA2",
        "name": "catenin alpha 2",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/ctnna2"
      },
      {
        "slug": "tubb",
        "symbol": "TUBB",
        "name": "tubulin beta class I",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/tubb"
      },
      {
        "slug": "tubb2a",
        "symbol": "TUBB2A",
        "name": "tubulin beta 2A class IIa",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/tubb2a"
      },
      {
        "slug": "tubg1",
        "symbol": "TUBG1",
        "name": "tubulin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/tubg1"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/actb"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/actg1"
      },
      {
        "slug": "adgrg1",
        "symbol": "ADGRG1",
        "name": "adhesion G protein-coupled receptor G1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/adgrg1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/arx"
      },
      {
        "slug": "camsap1",
        "symbol": "CAMSAP1",
        "name": "calmodulin regulated spectrin associated protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/camsap1"
      },
      {
        "slug": "cdk5",
        "symbol": "CDK5",
        "name": "cyclin dependent kinase 5",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cdk5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}