{
  "url": "https://dantelabs.com/de/genes/snai2",
  "gene": {
    "slug": "snai2",
    "symbol": "SNAI2",
    "name": "snail family transcriptional repressor 2",
    "hgnc": "HGNC:11094",
    "summary": null,
    "location": "8q11.21",
    "locusType": "gene with protein product",
    "aliases": [
      "SLUGH1",
      "SNAIL2",
      "SLUGH"
    ],
    "previousSymbols": [
      "SLUG"
    ],
    "ensemblId": "ENSG00000019549",
    "entrezId": 6591,
    "omim": [
      "602150"
    ],
    "uniprot": [
      "O43623"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 48917598,
      "end": 48921429,
      "strand": "-",
      "ensemblTranscript": "ENST00000020945.4",
      "refseqTranscript": "NM_003068.5",
      "ensemblProtein": "ENSP00000020945.1",
      "refseqProtein": "NP_003059.1",
      "exons": [
        {
          "start": 48917598,
          "end": 48918988
        },
        {
          "start": 48919896,
          "end": 48920441
        },
        {
          "start": 48921187,
          "end": 48921429
        }
      ],
      "cds": {
        "start": 48918807,
        "end": 48921265
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 49830249,
      "end": 49834299,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 48419514,
      "end": 49419513,
      "genes": [
        {
          "symbol": "CLXN",
          "ensemblId": "ENSG00000034239",
          "biotype": "protein_coding",
          "start": 48710789,
          "end": 48735311,
          "strand": "-",
          "slug": "clxn"
        },
        {
          "symbol": "PPDPFL",
          "ensemblId": "ENSG00000168333",
          "biotype": "protein_coding",
          "start": 49054311,
          "end": 49076093,
          "strand": "+",
          "slug": "ppdpfl"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "waardenburg-shah-syndrome",
        "name": "Waardenburg-Syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0018094",
            "name": "Waardenburg-Syndrom",
            "genes": 7,
            "inheritance": null,
            "description": "Eine Gruppe von Erkrankungen (Typ 1 bis 4), die Hörverlust und Pigmentveränderungen von Haaren, Haut und Augen verursacht. Ausgelöst werden sie durch Gene wie PAX3, MITF, SOX10, EDNRB und EDN3.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/waardenburg-shah-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-calvaria-morphology",
        "name": "Abnormality of cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-calvaria-morphology"
      },
      {
        "slug": "abnormality-of-the-pulmonary-artery",
        "name": "Abnormality of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-pulmonary-artery"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "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": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "heterochromia-iridis",
        "name": "Different colored eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/heterochromia-iridis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypopigmentation-of-hair",
        "name": "Loss of hair color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-hair"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "synophrys",
        "name": "Monobrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/synophrys"
      },
      {
        "slug": "hypopigmented-skin-patches",
        "name": "Patchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopigmented-skin-patches"
      },
      {
        "slug": "piebald-skin-depigmentation",
        "name": "Piebald skin depigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/piebald-skin-depigmentation"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "white-eyebrow",
        "name": "White eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/white-eyebrow"
      },
      {
        "slug": "white-eyelashes",
        "name": "White eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/white-eyelashes"
      },
      {
        "slug": "white-forelock",
        "name": "White part of hair above forehead",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/white-forelock"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [
      {
        "slug": "edn3",
        "symbol": "EDN3",
        "name": "endothelin 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/edn3"
      },
      {
        "slug": "ednrb",
        "symbol": "EDNRB",
        "name": "endothelin receptor type B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ednrb"
      },
      {
        "slug": "kitlg",
        "symbol": "KITLG",
        "name": "KIT ligand",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/kitlg"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "name": "melanocyte inducing transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/mitf"
      },
      {
        "slug": "pax3",
        "symbol": "PAX3",
        "name": "paired box 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/pax3"
      },
      {
        "slug": "sox10",
        "symbol": "SOX10",
        "name": "SRY-box transcription factor 10",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/sox10"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}