{
  "url": "https://dantelabs.com/fi/genes/mab21l2",
  "gene": {
    "slug": "mab21l2",
    "symbol": "MAB21L2",
    "name": "mab-21 like 2",
    "hgnc": "HGNC:6758",
    "summary": null,
    "location": "4q31.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000181541",
    "entrezId": 10586,
    "omim": [
      "604357"
    ],
    "uniprot": [
      "Q9Y586"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 150582151,
      "end": 150584693,
      "strand": "+",
      "ensemblTranscript": "ENST00000317605.6",
      "refseqTranscript": "NM_006439.5",
      "ensemblProtein": "ENSP00000324701.4",
      "refseqProtein": "NP_006430.1",
      "exons": [
        {
          "start": 150582151,
          "end": 150584693
        }
      ],
      "cds": {
        "start": 150583030,
        "end": 150584109
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 151503077,
      "end": 151505843,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 150083422,
      "end": 151083421,
      "genes": [
        {
          "symbol": "DCLK2",
          "ensemblId": "ENSG00000170390",
          "biotype": "protein_coding",
          "start": 150078084,
          "end": 150257457,
          "strand": "+",
          "slug": "dclk2"
        },
        {
          "symbol": "LRBA",
          "ensemblId": "ENSG00000198589",
          "biotype": "protein_coding",
          "start": 150264430,
          "end": 151015755,
          "strand": "-",
          "slug": "lrba"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "microphthalmia-anophthalmia-coloboma",
        "name": "Mikrophthalmia, anophthalmia ja koloboma",
        "diseases": [
          {
            "mondoId": "MONDO:0016073",
            "name": "Oireyhtymään liittyvä mikrophthalmia",
            "genes": 19,
            "inheritance": null,
            "description": "Mikrophthalmia, johon liittyy silmän ulkopuolisia piirteitä. Sen aiheuttavat muutokset geeneissä, kuten SOX2, OTX2, BCOR, STRA6 ja BMP4.",
            "management": "Geneettinen diagnoosi ohjaa niiden liitännäisoireiden tarkastuksia, kuten aivolisäkkeen hormonihäiriöiden seurantaa SOX2- tai OTX2-muutosten yhteydessä, ja auttaa arvioimaan uusiutumisriskiä.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/microphthalmia-anophthalmia-coloboma"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "3-4-finger-cutaneous-syndactyly",
        "name": "3-4 finger cutaneous syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/3-4-finger-cutaneous-syndactyly"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "anophthalmia",
        "name": "Absence of eyeballs",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anophthalmia"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cryptophthalmos",
        "name": "Cryptophthalmos",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptophthalmos"
      },
      {
        "slug": "ectopia-pupillae",
        "name": "Displaced pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ectopia-pupillae"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "precocious-puberty",
        "name": "Early onset of puberty",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/precocious-puberty"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "periorbital-fullness",
        "name": "Fullness around the eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/periorbital-fullness"
      },
      {
        "slug": "sclerocornea",
        "name": "Hardening of skin and connective tissue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sclerocornea"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "long-eyelashes",
        "name": "Long eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/long-eyelashes"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "recurrent-patellar-dislocation",
        "name": "Recurrent patellar dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-patellar-dislocation"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      }
    ],
    "related": [
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "name": "BCL6 corepressor",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bcor"
      },
      {
        "slug": "bmp4",
        "symbol": "BMP4",
        "name": "bone morphogenetic protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/bmp4"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "name": "cytochrome c oxidase subunit 7B",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cox7b"
      },
      {
        "slug": "ercc1",
        "symbol": "ERCC1",
        "name": "ERCC excision repair 1, endonuclease non-catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ercc1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ercc2"
      },
      {
        "slug": "ercc5",
        "symbol": "ERCC5",
        "name": "ERCC excision repair 5, endonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ercc5"
      },
      {
        "slug": "fat1",
        "symbol": "FAT1",
        "name": "FAT atypical cadherin 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/fat1"
      },
      {
        "slug": "hccs",
        "symbol": "HCCS",
        "name": "holocytochrome c synthase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/hccs"
      },
      {
        "slug": "hmx1",
        "symbol": "HMX1",
        "name": "H6 family homeobox 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/hmx1"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ndufb11"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "name": "orthodenticle homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/otx2"
      },
      {
        "slug": "rab18",
        "symbol": "RAB18",
        "name": "RAB18, member RAS oncogene family",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/rab18"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}