{
  "url": "https://dantelabs.com/nl/genes/mgme1",
  "gene": {
    "slug": "mgme1",
    "symbol": "MGME1",
    "name": "mitochondrial genome maintenance exonuclease 1",
    "hgnc": "HGNC:16205",
    "summary": null,
    "location": "20p11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "bA504H3.4",
      "DDK1"
    ],
    "previousSymbols": [
      "C20orf72"
    ],
    "ensemblId": "ENSG00000125871",
    "entrezId": 92667,
    "omim": [
      "615076"
    ],
    "uniprot": [
      "Q9BQP7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 17969018,
      "end": 17991122,
      "strand": "+",
      "ensemblTranscript": "ENST00000377710.10",
      "refseqTranscript": "NM_052865.4",
      "ensemblProtein": "ENSP00000366939.5",
      "refseqProtein": "NP_443097.1",
      "exons": [
        {
          "start": 17969018,
          "end": 17969141
        },
        {
          "start": 17969801,
          "end": 17970370
        },
        {
          "start": 17975684,
          "end": 17975903
        },
        {
          "start": 17988166,
          "end": 17988298
        },
        {
          "start": 17989939,
          "end": 17991122
        }
      ],
      "cds": {
        "start": 17969860,
        "end": 17990109
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 17949556,
      "end": 17971765,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 17480070,
      "end": 18480069,
      "genes": [
        {
          "symbol": "PCSK2",
          "ensemblId": "ENSG00000125851",
          "biotype": "protein_coding",
          "start": 17226107,
          "end": 17484578,
          "strand": "+",
          "slug": "pcsk2"
        },
        {
          "symbol": "BFSP1",
          "ensemblId": "ENSG00000125864",
          "biotype": "protein_coding",
          "start": 17493905,
          "end": 17569220,
          "strand": "-",
          "slug": "bfsp1"
        },
        {
          "symbol": "DSTN",
          "ensemblId": "ENSG00000125868",
          "biotype": "protein_coding",
          "start": 17569152,
          "end": 17609919,
          "strand": "+",
          "slug": "dstn"
        },
        {
          "symbol": "RRBP1",
          "ensemblId": "ENSG00000125844",
          "biotype": "protein_coding",
          "start": 17613678,
          "end": 17682295,
          "strand": "-",
          "slug": "rrbp1"
        },
        {
          "symbol": "BANF2",
          "ensemblId": "ENSG00000125888",
          "biotype": "protein_coding",
          "start": 17693672,
          "end": 17735873,
          "strand": "+",
          "slug": "banf2"
        },
        {
          "symbol": "SNX5",
          "ensemblId": "ENSG00000089006",
          "biotype": "protein_coding",
          "start": 17941597,
          "end": 17969022,
          "strand": "-",
          "slug": "snx5"
        },
        {
          "symbol": "OVOL2",
          "ensemblId": "ENSG00000125850",
          "biotype": "protein_coding",
          "start": 17956979,
          "end": 18059188,
          "strand": "-",
          "slug": "ovol2"
        },
        {
          "symbol": "KAT14",
          "ensemblId": "ENSG00000149474",
          "biotype": "protein_coding",
          "start": 18137228,
          "end": 18188844,
          "strand": "+",
          "slug": "kat14"
        },
        {
          "symbol": "PET117",
          "ensemblId": "ENSG00000232838",
          "biotype": "protein_coding",
          "start": 18137832,
          "end": 18143290,
          "strand": "+",
          "slug": "pet117"
        },
        {
          "symbol": "ZNF133",
          "ensemblId": "ENSG00000125846",
          "biotype": "protein_coding",
          "start": 18288265,
          "end": 18316996,
          "strand": "+",
          "slug": "znf133"
        },
        {
          "symbol": "DZANK1",
          "ensemblId": "ENSG00000089091",
          "biotype": "protein_coding",
          "start": 18383361,
          "end": 18467332,
          "strand": "-",
          "slug": "dzank1"
        },
        {
          "symbol": "POLR3F",
          "ensemblId": "ENSG00000132664",
          "biotype": "protein_coding",
          "start": 18466878,
          "end": 18484648,
          "strand": "+",
          "slug": "polr3f"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaire mitochondriële ziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0018158",
            "name": "Mitochondriaal DNA-depletiesyndroom",
            "genes": 20,
            "inheritance": null,
            "description": "Veroorzaakt door varianten in nucleaire genen zoals POLG, TWNK, TK2, DGUOK, MPV17, RRM2B en SUCLA2. Deze verminderen de hoeveelheid mitochondriaal DNA en kunnen spier-, lever- of hersenziekte veroorzaken.",
            "management": "Weten is direct bruikbaar: valproaat moet bij POLG-ziekte worden vermeden vanwege het risico op fatale leverinsufficiëntie, en bij TK2-deficiëntie bestaat een nucleosidetherapie.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "decreased-mitochondrial-number",
        "name": "Decreased mitochondrial number",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-mitochondrial-number"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hypergonadotropic-hypogonadism",
        "name": "Hypergonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "multiple-mitochondrial-dna-deletions",
        "name": "Multiple mitochondrial DNA deletions",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multiple-mitochondrial-dna-deletions"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "neuropathic-spinal-arthropathy",
        "name": "Neuropathic spinal arthropathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neuropathic-spinal-arthropathy"
      },
      {
        "slug": "poor-appetite",
        "name": "Poor appetite",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-appetite"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-external-ophthalmoplegia",
        "name": "Progressive external ophthalmoplegia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "spinal-rigidity",
        "name": "Reduced spine movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinal-rigidity"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "proximal-amyotrophy",
        "name": "Wasting of muscles near the body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/proximal-amyotrophy"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      }
    ],
    "related": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/afg3l2"
      },
      {
        "slug": "agk",
        "symbol": "AGK",
        "name": "acylglycerol kinase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/agk"
      },
      {
        "slug": "dguok",
        "symbol": "DGUOK",
        "name": "deoxyguanosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dguok"
      },
      {
        "slug": "dna2",
        "symbol": "DNA2",
        "name": "DNA replication helicase/nuclease 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dna2"
      },
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "name": "F-box and leucine rich repeat protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/fbxl4"
      },
      {
        "slug": "guk1",
        "symbol": "GUK1",
        "name": "guanylate kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/guk1"
      },
      {
        "slug": "lig3",
        "symbol": "LIG3",
        "name": "DNA ligase 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/lig3"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "name": "mitochondrial inner membrane protein MPV17",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mpv17"
      },
      {
        "slug": "mrm2",
        "symbol": "MRM2",
        "name": "mitochondrial rRNA methyltransferase 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/mrm2"
      },
      {
        "slug": "opa1",
        "symbol": "OPA1",
        "name": "OPA1 mitochondrial dynamin like GTPase",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/opa1"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "name": "DNA polymerase gamma, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/polg"
      },
      {
        "slug": "rrm2b",
        "symbol": "RRM2B",
        "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/rrm2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}