{
  "url": "https://dantelabs.com/nl/genes/vma12",
  "gene": {
    "slug": "vma12",
    "symbol": "VMA12",
    "name": "vacuolar ATPase assembly factor VMA12",
    "hgnc": "HGNC:18085",
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    "location": "17q11.2",
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      "MGC45714"
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        {
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        {
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        {
          "symbol": "VTN",
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        {
          "symbol": "SLC46A1",
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        {
          "symbol": "RSKR",
          "ensemblId": "ENSG00000167524",
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        {
          "symbol": "SLC13A2",
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        {
          "symbol": "FOXN1",
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        {
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        {
          "symbol": "PIGS",
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          "slug": "pigs"
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        {
          "symbol": "ALDOC",
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        {
          "symbol": "SPAG5",
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        {
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        {
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          "slug": "bltp2"
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        {
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        {
          "symbol": "SUPT6H",
          "ensemblId": "ENSG00000109111",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "PROCA1",
          "ensemblId": "ENSG00000167525",
          "biotype": "protein_coding",
          "start": 28703196,
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          "strand": "-",
          "slug": "proca1"
        },
        {
          "symbol": "RAB34",
          "ensemblId": "ENSG00000109113",
          "biotype": "protein_coding",
          "start": 28713545,
          "end": 28719594,
          "strand": "-",
          "slug": "rab34"
        },
        {
          "symbol": "RPL23A",
          "ensemblId": "ENSG00000198242",
          "biotype": "protein_coding",
          "start": 28719940,
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          "strand": "+",
          "slug": "rpl23a"
        },
        {
          "symbol": "TLCD1",
          "ensemblId": "ENSG00000160606",
          "biotype": "protein_coding",
          "start": 28723435,
          "end": 28727935,
          "strand": "-",
          "slug": "tlcd1"
        },
        {
          "symbol": "NEK8",
          "ensemblId": "ENSG00000160602",
          "biotype": "protein_coding",
          "start": 28725897,
          "end": 28743455,
          "strand": "+",
          "slug": "nek8"
        },
        {
          "symbol": "TRAF4",
          "ensemblId": "ENSG00000076604",
          "biotype": "protein_coding",
          "start": 28743978,
          "end": 28772894,
          "strand": "+",
          "slug": "traf4"
        },
        {
          "symbol": "FAM222B",
          "ensemblId": "ENSG00000173065",
          "biotype": "protein_coding",
          "start": 28755966,
          "end": 28855232,
          "strand": "-",
          "slug": "fam222b"
        },
        {
          "symbol": "ERAL1",
          "ensemblId": "ENSG00000132591",
          "biotype": "protein_coding",
          "start": 28854983,
          "end": 28861067,
          "strand": "+",
          "slug": "eral1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "Congenitale glycosylatiestoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Congenitale glycosylatiestoornissen (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Een grote groep erfelijke aandoeningen waarbij suikerketens (glycanen) niet correct worden opgebouwd of aan eiwitten en lipiden worden gehecht, wat vaak gevolgen heeft voor de hersenen, de lever, de bloedstolling, de groei en veel andere lichaamssystemen. De meeste zijn autosomaal recessief, maar sommige zijn X-gebonden of autosomaal dominant.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-protein-n-linked-glycosylation",
        "name": "Abnormal protein N-linked glycosylation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-protein-n-linked-glycosylation"
      },
      {
        "slug": "abnormal-protein-o-linked-glycosylation",
        "name": "Abnormal protein O-linked glycosylation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-protein-o-linked-glycosylation"
      },
      {
        "slug": "copper-accumulation-in-liver",
        "name": "Copper accumulation in liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/copper-accumulation-in-liver"
      },
      {
        "slug": "decreased-circulating-copper-concentration",
        "name": "Copper deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-copper-concentration"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "decreased-circulating-ceruloplasmin-concentration",
        "name": "Decreased serum ceruloplasmin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-ceruloplasmin-concentration"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "elevated-circulating-ldl-c-concentration",
        "name": "Increased circulating LDL level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-ldl-c-concentration"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "type-ii-transferrin-isoform-profile",
        "name": "Type II transferrin isoform profile",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-ii-transferrin-isoform-profile"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}