{
  "url": "https://dantelabs.com/cs/genes/aldh1a2",
  "gene": {
    "slug": "aldh1a2",
    "symbol": "ALDH1A2",
    "name": "aldehyde dehydrogenase 1 family member A2",
    "hgnc": "HGNC:15472",
    "summary": null,
    "location": "15q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "RALDH2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000128918",
    "entrezId": 8854,
    "omim": [
      "603687"
    ],
    "uniprot": [
      "O94788"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 57953429,
      "end": 58065711,
      "strand": "-",
      "ensemblTranscript": "ENST00000249750.9",
      "refseqTranscript": "NM_003888.4",
      "ensemblProtein": "ENSP00000249750.4",
      "refseqProtein": "NP_003879.2",
      "exons": [
        {
          "start": 57953429,
          "end": 57955269
        },
        {
          "start": 57960770,
          "end": 57960844
        },
        {
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          "end": 57961294
        },
        {
          "start": 57962012,
          "end": 57962176
        },
        {
          "start": 57963885,
          "end": 57964069
        },
        {
          "start": 57965725,
          "end": 57965827
        },
        {
          "start": 57992705,
          "end": 57992818
        },
        {
          "start": 57992945,
          "end": 57993073
        },
        {
          "start": 57995078,
          "end": 57995139
        },
        {
          "start": 58010649,
          "end": 58010778
        },
        {
          "start": 58013858,
          "end": 58013998
        },
        {
          "start": 58014177,
          "end": 58014281
        },
        {
          "start": 58065534,
          "end": 58065711
        }
      ],
      "cds": {
        "start": 57955197,
        "end": 58065650
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 58245622,
      "end": 58790065,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 57509570,
      "end": 58509569,
      "genes": [
        {
          "symbol": "CGNL1",
          "ensemblId": "ENSG00000128849",
          "biotype": "protein_coding",
          "start": 57375967,
          "end": 57551742,
          "strand": "+",
          "slug": "cgnl1"
        },
        {
          "symbol": "MYZAP",
          "ensemblId": "ENSG00000263155",
          "biotype": "protein_coding",
          "start": 57591889,
          "end": 57685676,
          "strand": "+",
          "slug": "myzap"
        },
        {
          "symbol": "GCOM1",
          "ensemblId": "ENSG00000137878",
          "biotype": "protein_coding",
          "start": 57591908,
          "end": 57714745,
          "strand": "+",
          "slug": "gcom1"
        },
        {
          "symbol": "POLR2M",
          "ensemblId": "ENSG00000255529",
          "biotype": "protein_coding",
          "start": 57706641,
          "end": 57782762,
          "strand": "+",
          "slug": "polr2m"
        },
        {
          "symbol": "AQP9",
          "ensemblId": "ENSG00000103569",
          "biotype": "protein_coding",
          "start": 58138169,
          "end": 58185915,
          "strand": "+",
          "slug": "aqp9"
        },
        {
          "symbol": "LIPC",
          "ensemblId": "ENSG00000166035",
          "biotype": "protein_coding",
          "start": 58410380,
          "end": 58570449,
          "strand": "+",
          "slug": "lipc"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Congenital Diaphragmatic Hernia (Monogenic)",
        "diseases": [
          {
            "mondoId": "MONDO:0005711",
            "name": "Congenital Diaphragmatic Hernia",
            "genes": 3,
            "inheritance": null,
            "description": "Incomplete formation of the diaphragm present at birth, which in a minority of families is linked to single genes such as ZFPM2, GATA4, NR2F2, ALDH1A2 or PLS3, often with incomplete penetrance.",
            "management": "Knowing is mainly relevant to family planning, as it can inform recurrence risk and the option of prenatal imaging in a future pregnancy.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/congenital-diaphragmatic-hernia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "11-pairs-of-ribs",
        "name": "11 pairs of ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/11-pairs-of-ribs"
      },
      {
        "slug": "aortopulmonary-collateral-arteries",
        "name": "Aortopulmonary collateral arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortopulmonary-collateral-arteries"
      },
      {
        "slug": "aortopulmonary-window",
        "name": "Aortopulmonary window",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortopulmonary-window"
      },
      {
        "slug": "aplasia-of-the-left-hemidiaphragm",
        "name": "Aplasia of the left hemidiaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-of-the-left-hemidiaphragm"
      },
      {
        "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": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "coronal-cleft-vertebrae",
        "name": "Coronal cleft vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coronal-cleft-vertebrae"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "diaphragmatic-eventration",
        "name": "Diaphragmatic eventration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diaphragmatic-eventration"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "finger-syndactyly",
        "name": "Finger syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/finger-syndactyly"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "short-chin",
        "name": "Short chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-chin"
      },
      {
        "slug": "pulmonary-artery-hypoplasia",
        "name": "Underdeveloped lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-artery-hypoplasia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      },
      {
        "slug": "webbed-neck",
        "name": "Webbed neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/webbed-neck"
      }
    ],
    "related": [
      {
        "slug": "pls3",
        "symbol": "PLS3",
        "name": "plastin 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/pls3"
      },
      {
        "slug": "zfpm2",
        "symbol": "ZFPM2",
        "name": "zinc finger protein, FOG family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/zfpm2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}