{
  "url": "https://dantelabs.com/sv/genes/gnpat",
  "gene": {
    "slug": "gnpat",
    "symbol": "GNPAT",
    "name": "glyceronephosphate O-acyltransferase",
    "hgnc": "HGNC:4416",
    "summary": null,
    "location": "1q42.2",
    "locusType": "gene with protein product",
    "aliases": [
      "DHAPAT",
      "DAPAT",
      "DAP-AT"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000116906",
    "entrezId": 8443,
    "omim": [
      "602744"
    ],
    "uniprot": [
      "O15228"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 231241212,
      "end": 231277973,
      "strand": "+",
      "ensemblTranscript": "ENST00000366647.9",
      "refseqTranscript": "NM_014236.4",
      "ensemblProtein": "ENSP00000355607.4",
      "refseqProtein": "NP_055051.1",
      "exons": [
        {
          "start": 231241212,
          "end": 231241456
        },
        {
          "start": 231250961,
          "end": 231251143
        },
        {
          "start": 231260507,
          "end": 231260683
        },
        {
          "start": 231262723,
          "end": 231262852
        },
        {
          "start": 231265293,
          "end": 231265420
        },
        {
          "start": 231265712,
          "end": 231265787
        },
        {
          "start": 231266014,
          "end": 231266165
        },
        {
          "start": 231266277,
          "end": 231266407
        },
        {
          "start": 231267680,
          "end": 231267903
        },
        {
          "start": 231270758,
          "end": 231271000
        },
        {
          "start": 231272312,
          "end": 231272391
        },
        {
          "start": 231273922,
          "end": 231274062
        },
        {
          "start": 231275221,
          "end": 231275320
        },
        {
          "start": 231275405,
          "end": 231275498
        },
        {
          "start": 231276135,
          "end": 231276196
        },
        {
          "start": 231277499,
          "end": 231277973
        }
      ],
      "cds": {
        "start": 231241379,
        "end": 231277542
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 231376953,
      "end": 231413719,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 230759593,
      "end": 231759592,
      "genes": [
        {
          "symbol": "CAPN9",
          "ensemblId": "ENSG00000135773",
          "biotype": "protein_coding",
          "start": 230747266,
          "end": 230804397,
          "strand": "+",
          "slug": "capn9"
        },
        {
          "symbol": "C1orf198",
          "ensemblId": "ENSG00000119280",
          "biotype": "protein_coding",
          "start": 230837119,
          "end": 230869589,
          "strand": "-",
          "slug": "c1orf198"
        },
        {
          "symbol": "TTC13",
          "ensemblId": "ENSG00000143643",
          "biotype": "protein_coding",
          "start": 230902936,
          "end": 230978893,
          "strand": "-",
          "slug": "ttc13"
        },
        {
          "symbol": "ARV1",
          "ensemblId": "ENSG00000173409",
          "biotype": "protein_coding",
          "start": 230978981,
          "end": 231000735,
          "strand": "+",
          "slug": "arv1"
        },
        {
          "symbol": "FAM89A",
          "ensemblId": "ENSG00000182118",
          "biotype": "protein_coding",
          "start": 230999826,
          "end": 231040270,
          "strand": "-",
          "slug": "fam89a"
        },
        {
          "symbol": "TRIM67",
          "ensemblId": "ENSG00000119283",
          "biotype": "protein_coding",
          "start": 231162058,
          "end": 231221565,
          "strand": "+",
          "slug": "trim67"
        },
        {
          "symbol": "FSAF1",
          "ensemblId": "ENSG00000143633",
          "biotype": "protein_coding",
          "start": 231223763,
          "end": 231241187,
          "strand": "-",
          "slug": "fsaf1"
        },
        {
          "symbol": "EXOC8",
          "ensemblId": "ENSG00000116903",
          "biotype": "protein_coding",
          "start": 231332753,
          "end": 231337852,
          "strand": "-",
          "slug": "exoc8"
        },
        {
          "symbol": "SPRTN",
          "ensemblId": "ENSG00000010072",
          "biotype": "protein_coding",
          "start": 231337104,
          "end": 231375416,
          "strand": "+",
          "slug": "sprtn"
        },
        {
          "symbol": "EGLN1",
          "ensemblId": "ENSG00000135766",
          "biotype": "protein_coding",
          "start": 231359560,
          "end": 231422749,
          "strand": "-",
          "slug": "egln1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000287856",
          "biotype": "protein_coding",
          "start": 231363797,
          "end": 231528603,
          "strand": "-"
        },
        {
          "symbol": "TSNAX",
          "ensemblId": "ENSG00000116918",
          "biotype": "protein_coding",
          "start": 231528541,
          "end": 231566524,
          "strand": "+",
          "slug": "tsnax"
        },
        {
          "symbol": "TSNAX-DISC1",
          "ensemblId": "ENSG00000270106",
          "biotype": "protein_coding",
          "start": 231528653,
          "end": 231819244,
          "strand": "+",
          "slug": "tsnax-disc1"
        },
        {
          "symbol": "DISC1",
          "ensemblId": "ENSG00000162946",
          "biotype": "protein_coding",
          "start": 231626663,
          "end": 232041272,
          "strand": "+",
          "slug": "disc1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "peroxisomal-enzyme-disorders-and-refsum-disease",
        "name": "Peroxisomala enzymsjukdomar och Refsums sjukdom",
        "diseases": [
          {
            "mondoId": "MONDO:0100273",
            "name": "Brist på glyceronfosfat-O-acyltransferas",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Orsakas av varianter i GNPAT, vilket försämrar produktionen av plasmalogen och ger rhizomelisk kondrodysplasi punctata typ 2, med förkortade extremiteter, grå starr och försenad utveckling.",
            "management": "Om du känner till detta kan en diagnostisk utredning avslutas, och det kan vägleda stödjande vård och familjeplanering.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/peroxisomal-enzyme-disorders-and-refsum-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pelvic-girdle-bone-morphology",
        "name": "Abnormal shape of pelvic girdle bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "calcific-stippling",
        "name": "Calcific stippling",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/calcific-stippling"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coronal-cleft-vertebrae",
        "name": "Coronal cleft vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coronal-cleft-vertebrae"
      },
      {
        "slug": "decreased-circulating-plasmalogen-concentration",
        "name": "Decreased circulating plasmalogen concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-plasmalogen-concentration"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "disproportionate-short-stature",
        "name": "Disproportionate short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/disproportionate-short-stature"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hip-contracture",
        "name": "Hip contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hip-contracture"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "irregular-vertebral-endplates",
        "name": "Irregular vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-vertebral-endplates"
      },
      {
        "slug": "knee-contracture",
        "name": "Knee contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/knee-contracture"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "reduced-acyl-coa-dihydroxyacetone-phosphate-acyltransferase-activity-in-cultured-fibroblasts",
        "name": "Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-acyl-coa-dihydroxyacetone-phosphate-acyltransferase-activity-in-cultured-fibroblasts"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-humerus",
        "name": "Short humerus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-humerus"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "epiphyseal-stippling",
        "name": "Speckled calcifications in end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epiphyseal-stippling"
      },
      {
        "slug": "stippled-calcification-proximal-humeral-epiphyses",
        "name": "Speckled calcifications in end part of innermost long bone of upper arm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stippled-calcification-proximal-humeral-epiphyses"
      },
      {
        "slug": "submucous-cleft-hard-palate",
        "name": "Submucous cleft hard palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate"
      },
      {
        "slug": "tetralogy-of-fallot",
        "name": "Tetralogy of Fallot",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tetralogy-of-fallot"
      },
      {
        "slug": "large-fontanelles",
        "name": "Wide fontanelles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/large-fontanelles"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "zonular-cataract",
        "name": "Zonular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/zonular-cataract"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}