{
  "url": "https://dantelabs.com/nl/genes/qrsl1",
  "gene": {
    "slug": "qrsl1",
    "symbol": "QRSL1",
    "name": "glutaminyl-tRNA amidotransferase subunit QRSL1",
    "hgnc": "HGNC:21020",
    "summary": null,
    "location": "6q21",
    "locusType": "gene with protein product",
    "aliases": [
      "GatA",
      "FLJ10989",
      "FLJ12189",
      "DKFZP564C1278",
      "FLJ13447",
      "GATA"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000130348",
    "entrezId": 55278,
    "omim": [
      "617209"
    ],
    "uniprot": [
      "Q9H0R6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 106629578,
      "end": 106668417,
      "strand": "+",
      "ensemblTranscript": "ENST00000369046.8",
      "refseqTranscript": "NM_018292.5",
      "ensemblProtein": "ENSP00000358042.4",
      "refseqProtein": "NP_060762.3",
      "exons": [
        {
          "start": 106629578,
          "end": 106629705
        },
        {
          "start": 106640349,
          "end": 106640508
        },
        {
          "start": 106640823,
          "end": 106640921
        },
        {
          "start": 106642994,
          "end": 106643090
        },
        {
          "start": 106649025,
          "end": 106649201
        },
        {
          "start": 106652209,
          "end": 106652384
        },
        {
          "start": 106652467,
          "end": 106652582
        },
        {
          "start": 106654730,
          "end": 106654922
        },
        {
          "start": 106655615,
          "end": 106655732
        },
        {
          "start": 106662980,
          "end": 106663185
        },
        {
          "start": 106665782,
          "end": 106668417
        }
      ],
      "cds": {
        "start": 106629682,
        "end": 106666002
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 107077453,
      "end": 107116292,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 106148998,
      "end": 107148997,
      "genes": [
        {
          "symbol": "ATG5",
          "ensemblId": "ENSG00000057663",
          "biotype": "protein_coding",
          "start": 106045423,
          "end": 106326477,
          "strand": "-",
          "slug": "atg5"
        },
        {
          "symbol": "CRYBG1",
          "ensemblId": "ENSG00000112297",
          "biotype": "protein_coding",
          "start": 106360563,
          "end": 106572017,
          "strand": "+",
          "slug": "crybg1"
        },
        {
          "symbol": "RTN4IP1",
          "ensemblId": "ENSG00000130347",
          "biotype": "protein_coding",
          "start": 106559393,
          "end": 106629503,
          "strand": "-",
          "slug": "rtn4ip1"
        },
        {
          "symbol": "CD24",
          "ensemblId": "ENSG00000272398",
          "biotype": "protein_coding",
          "start": 106969831,
          "end": 106975802,
          "strand": "-",
          "slug": "cd24"
        },
        {
          "symbol": "MTRES1",
          "ensemblId": "ENSG00000130349",
          "biotype": "protein_coding",
          "start": 107028167,
          "end": 107051594,
          "strand": "+",
          "slug": "mtres1"
        },
        {
          "symbol": "BEND3",
          "ensemblId": "ENSG00000178409",
          "biotype": "protein_coding",
          "start": 107065138,
          "end": 107116234,
          "strand": "-",
          "slug": "bend3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primaire mitochondriële ziekte",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Gecombineerde deficiëntie van oxidatieve fosforylering",
            "genes": 48,
            "inheritance": null,
            "description": "Aandoeningen, meestal veroorzaakt door nucleaire genen die betrokken zijn bij de productie van mitochondriale eiwitten. Ze verminderen meerdere ademhalingsketencomplexen tegelijk en veroorzaken vaak ernstige ziekte van meerdere organen in de kindertijd.",
            "management": "Weten kan een diagnostisch zoektraject beëindigen en helpt bij controle en ondersteunende zorg.",
            "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": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iii",
        "name": "Decreased activity of mitochondrial complex III",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "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": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "decreased-circulating-cortisol-level",
        "name": "Low blood cortisol level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-cortisol-level"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/aifm1"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/atp5po"
      },
      {
        "slug": "c1qbp",
        "symbol": "C1QBP",
        "name": "complement C1q binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/c1qbp"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/c2orf69"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/elac2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}