{
  "url": "https://dantelabs.com/tr/genes/tmtc3",
  "gene": {
    "slug": "tmtc3",
    "symbol": "TMTC3",
    "name": "transmembrane O-mannosyltransferase targeting cadherins 3",
    "hgnc": "HGNC:26899",
    "summary": null,
    "location": "12q21.32",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ90492",
      "SMILE"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000139324",
    "entrezId": 160418,
    "omim": [
      "617218"
    ],
    "uniprot": [
      "Q6ZXV5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 88142307,
      "end": 88199887,
      "strand": "+",
      "ensemblTranscript": "ENST00000266712.11",
      "refseqTranscript": "NM_181783.4",
      "ensemblProtein": "ENSP00000266712.6",
      "refseqProtein": "NP_861448.2",
      "exons": [
        {
          "start": 88142307,
          "end": 88142487
        },
        {
          "start": 88148288,
          "end": 88148504
        },
        {
          "start": 88153291,
          "end": 88153509
        },
        {
          "start": 88154288,
          "end": 88154387
        },
        {
          "start": 88160114,
          "end": 88160229
        },
        {
          "start": 88160679,
          "end": 88160851
        },
        {
          "start": 88166330,
          "end": 88166582
        },
        {
          "start": 88172597,
          "end": 88172745
        },
        {
          "start": 88174607,
          "end": 88174727
        },
        {
          "start": 88176208,
          "end": 88176319
        },
        {
          "start": 88188843,
          "end": 88188946
        },
        {
          "start": 88190453,
          "end": 88190622
        },
        {
          "start": 88192604,
          "end": 88192830
        },
        {
          "start": 88194838,
          "end": 88199887
        }
      ],
      "cds": {
        "start": 88148316,
        "end": 88195649
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 88536073,
      "end": 88593664,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 87671097,
      "end": 88671096,
      "genes": [
        {
          "symbol": "ZC3H11D",
          "ensemblId": "ENSG00000165805",
          "biotype": "protein_coding",
          "start": 87980035,
          "end": 88034037,
          "strand": "-",
          "slug": "zc3h11d"
        },
        {
          "symbol": "RLIG1",
          "ensemblId": "ENSG00000133641",
          "biotype": "protein_coding",
          "start": 88033846,
          "end": 88050160,
          "strand": "+",
          "slug": "rlig1"
        },
        {
          "symbol": "CEP290",
          "ensemblId": "ENSG00000198707",
          "biotype": "protein_coding",
          "start": 88049016,
          "end": 88142099,
          "strand": "-",
          "slug": "cep290"
        },
        {
          "symbol": "KITLG",
          "ensemblId": "ENSG00000049130",
          "biotype": "protein_coding",
          "start": 88492789,
          "end": 88580851,
          "strand": "-",
          "slug": "kitlg"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "lissencephaly-spectrum-disorders",
        "name": "Lissensefali Spektrum Bozuklukları",
        "diseases": [
          {
            "mondoId": "MONDO:0018838",
            "name": "Lissensefali Spektrum Bozuklukları",
            "genes": 23,
            "inheritance": null,
            "description": "Gelişmekte olan beyinde sinir hücrelerinin yerlerine doğru göçünü kontrol eden genlerdeki değişikliklerden kaynaklanır. Bu rapor X kromozomundaki DCX ile çekinik kalıtılan APC2 genini içermektedir.",
            "management": "Bakım, nöbet kontrolü, beslenme, fizyoterapi ve gelişimsel destek üzerine odaklanır. Genetik danışmanlık gene bağlıdır: baskın değişiklikler çoğunlukla de novo ortaya çıkar, DCX taşıyıcı anneden kalıtılabilir ve çekinik formlar iki taşıyıcı ebeveynden geçer.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/lissencephaly-spectrum-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-heart-valve-morphology",
        "name": "Abnormal heart valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology"
      },
      {
        "slug": "abnormal-myelination",
        "name": "Abnormal myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-myelination"
      },
      {
        "slug": "abnormal-nervous-system-morphology",
        "name": "Abnormal shape of nervous system",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "agyria",
        "name": "Agyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agyria"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "appendicular-spasticity",
        "name": "Appendicular spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/appendicular-spasticity"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "occipital-encephalocele",
        "name": "Brain tissue sticks out through back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/occipital-encephalocele"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "cerebral-hypomyelination",
        "name": "Cerebral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-hypomyelination"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-fine-motor-development",
        "name": "Delayed fine motor development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "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": "obligate",
        "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": "patellar-dislocation",
        "name": "Dislocated kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patellar-dislocation"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "dysgyria",
        "name": "Dysgyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysgyria"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/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": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "hernia",
        "name": "Hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "periventricular-heterotopia",
        "name": "Periventricular heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periventricular-heterotopia"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "retrocerebellar-cyst",
        "name": "Retrocerebellar cyst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrocerebellar-cyst"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-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": "frequent",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "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": "shoulder-dislocation",
        "name": "Shoulder dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shoulder-dislocation"
      },
      {
        "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": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "thin-skin",
        "name": "Thin skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-skin"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "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": "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"
      }
    ],
    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/actb"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/actg1"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "name": "APC regulator of Wnt signaling pathway 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/apc2"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/arx"
      },
      {
        "slug": "cdk5",
        "symbol": "CDK5",
        "name": "cyclin dependent kinase 5",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cdk5"
      },
      {
        "slug": "cep85l",
        "symbol": "CEP85L",
        "name": "centrosomal protein 85L",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cep85l"
      },
      {
        "slug": "ctnna2",
        "symbol": "CTNNA2",
        "name": "catenin alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ctnna2"
      },
      {
        "slug": "dcx",
        "symbol": "DCX",
        "name": "doublecortin",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/dcx"
      },
      {
        "slug": "katnb1",
        "symbol": "KATNB1",
        "name": "katanin regulatory subunit B1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/katnb1"
      },
      {
        "slug": "lamb1",
        "symbol": "LAMB1",
        "name": "laminin subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/lamb1"
      },
      {
        "slug": "macf1",
        "symbol": "MACF1",
        "name": "microtubule actin crosslinking factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/macf1"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "name": "nudE neurodevelopment protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/nde1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}