{
  "url": "https://dantelabs.com/ko/genes/alx1",
  "gene": {
    "slug": "alx1",
    "symbol": "ALX1",
    "name": "ALX homeobox 1",
    "hgnc": "HGNC:1494",
    "summary": null,
    "location": "12q21.31",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "CART1"
    ],
    "ensemblId": "ENSG00000180318",
    "entrezId": 8092,
    "omim": [
      "601527"
    ],
    "uniprot": [
      "Q15699"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 85280220,
      "end": 85301784,
      "strand": "+",
      "ensemblTranscript": "ENST00000316824.4",
      "refseqTranscript": "NM_006982.3",
      "ensemblProtein": "ENSP00000315417.3",
      "refseqProtein": "NP_008913.2",
      "exons": [
        {
          "start": 85280220,
          "end": 85280487
        },
        {
          "start": 85283572,
          "end": 85283876
        },
        {
          "start": 85286853,
          "end": 85286981
        },
        {
          "start": 85301155,
          "end": 85301784
        }
      ],
      "cds": {
        "start": 85280262,
        "end": 85301475
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 85673885,
      "end": 85695562,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 84791002,
      "end": 85791001,
      "genes": [
        {
          "symbol": "SLC6A15",
          "ensemblId": "ENSG00000072041",
          "biotype": "protein_coding",
          "start": 84859491,
          "end": 84913629,
          "strand": "-",
          "slug": "slc6a15"
        },
        {
          "symbol": "TSPAN19",
          "ensemblId": "ENSG00000231738",
          "biotype": "protein_coding",
          "start": 85014311,
          "end": 85036277,
          "strand": "-",
          "slug": "tspan19"
        },
        {
          "symbol": "LRRIQ1",
          "ensemblId": "ENSG00000133640",
          "biotype": "protein_coding",
          "start": 85036314,
          "end": 85264457,
          "strand": "+",
          "slug": "lrriq1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "frontonasal-dysplasia-3-alx1",
        "name": "전두비강 이형성증 3형 (ALX1)",
        "diseases": [
          {
            "mondoId": "MONDO:0013271",
            "name": "전두비강 이형성증 3형 (ALX1)",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "얼굴 중앙부와 눈을 이루는 조직의 발달을 지시하는 유전자인 ALX1의 기능 상실 변이로 인해 발생합니다.",
            "management": "치료는 안면두개 전문 팀이 주도하며, 수술, 안과 및 시력 관리, 섭식 지원이 함께 이루어집니다. 유전 상담을 받으실 수 있으며, 향후 임신에서 검사를 받을 수 있는 선택지도 있습니다.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/frontonasal-dysplasia-3-alx1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "absent-eyebrow",
        "name": "Absent eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-eyebrow"
      },
      {
        "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": "aplasia-hypoplasia-of-the-frontal-sinuses",
        "name": "Aplasia/Hypoplasia of the frontal sinuses",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-frontal-sinuses"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "eyelid-coloboma",
        "name": "Cleft eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eyelid-coloboma"
      },
      {
        "slug": "bifid-nose",
        "name": "Cleft nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bifid-nose"
      },
      {
        "slug": "tessier-cleft",
        "name": "Cleft of the face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tessier-cleft"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "upper-eyelid-coloboma",
        "name": "Cleft upper eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upper-eyelid-coloboma"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "cranium-bifidum-occultum",
        "name": "Cranium bifidum occultum",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cranium-bifidum-occultum"
      },
      {
        "slug": "finger-clinodactyly",
        "name": "Curvature of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/finger-clinodactyly"
      },
      {
        "slug": "hypoplasia-of-the-frontal-bone",
        "name": "Decreased size of bone of forehead",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-bone"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "pericallosal-lipoma",
        "name": "Pericallosal lipoma",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pericallosal-lipoma"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "prominent-glabella",
        "name": "Prominent area between the eyebrows",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-glabella"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "preauricular-skin-tag",
        "name": "Skin tag in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/preauricular-skin-tag"
      },
      {
        "slug": "pectoral-muscle-hypoplasia-aplasia",
        "name": "Small/absent pec muscle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectoral-muscle-hypoplasia-aplasia"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "tetralogy-of-fallot",
        "name": "Tetralogy of Fallot",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tetralogy-of-fallot"
      },
      {
        "slug": "underdeveloped-nasal-alae",
        "name": "Underdeveloped tissue around nostril",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "widow-s-peak",
        "name": "Widow's peak",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/widow-s-peak"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}