{
  "url": "https://dantelabs.com/ro/genes/mettl5",
  "gene": {
    "slug": "mettl5",
    "symbol": "METTL5",
    "name": "methyltransferase 5, N6-adenosine",
    "hgnc": "HGNC:25006",
    "summary": null,
    "location": "2q31.1",
    "locusType": "gene with protein product",
    "aliases": [
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    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000138382",
    "entrezId": 29081,
    "omim": [
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    ],
    "uniprot": [
      "Q9NRN9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 169811757,
      "end": 169824905,
      "strand": "-",
      "ensemblTranscript": "ENST00000260953.10",
      "refseqTranscript": "NM_014168.4",
      "ensemblProtein": "ENSP00000260953.5",
      "refseqProtein": "NP_054887.2",
      "exons": [
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          "start": 169811757,
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        },
        {
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        },
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        }
      ],
      "cds": {
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      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
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      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "LRP2",
          "ensemblId": "ENSG00000081479",
          "biotype": "protein_coding",
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          "end": 169362780,
          "strand": "-",
          "slug": "lrp2"
        },
        {
          "symbol": "BBS5",
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          "end": 169509452,
          "strand": "+",
          "slug": "bbs5"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000251569",
          "biotype": "protein_coding",
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          "end": 169525922,
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        },
        {
          "symbol": "KLHL41",
          "ensemblId": "ENSG00000239474",
          "biotype": "protein_coding",
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          "end": 169526262,
          "strand": "+",
          "slug": "klhl41"
        },
        {
          "symbol": "FASTKD1",
          "ensemblId": "ENSG00000138399",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fastkd1"
        },
        {
          "symbol": "PPIG",
          "ensemblId": "ENSG00000138398",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ppig"
        },
        {
          "symbol": "CFAP210",
          "ensemblId": "ENSG00000154479",
          "biotype": "protein_coding",
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          "end": 169694426,
          "strand": "-",
          "slug": "cfap210"
        },
        {
          "symbol": "PHOSPHO2",
          "ensemblId": "ENSG00000144362",
          "biotype": "protein_coding",
          "start": 169694435,
          "end": 169704808,
          "strand": "+",
          "slug": "phospho2"
        },
        {
          "symbol": "KLHL23",
          "ensemblId": "ENSG00000213160",
          "biotype": "protein_coding",
          "start": 169694435,
          "end": 169792697,
          "strand": "+",
          "slug": "klhl23"
        },
        {
          "symbol": "SSB",
          "ensemblId": "ENSG00000138385",
          "biotype": "protein_coding",
          "start": 169791933,
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          "strand": "+",
          "slug": "ssb"
        },
        {
          "symbol": "UBR3",
          "ensemblId": "ENSG00000144357",
          "biotype": "protein_coding",
          "start": 169827396,
          "end": 170084461,
          "strand": "+",
          "slug": "ubr3"
        },
        {
          "symbol": "MYO3B",
          "ensemblId": "ENSG00000071909",
          "biotype": "protein_coding",
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          "end": 170655171,
          "strand": "+",
          "slug": "myo3b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intellectual-disability",
        "name": "Dizabilitate intelectuală",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "dizabilitate intelectuală",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cortical-bone-morphology",
        "name": "Abnormal cortical bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "hypoplasia-of-the-frontal-lobes",
        "name": "Underdeveloped frontal lobe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      }
    ],
    "related": [
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ap2m1"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arhgef9"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "name": "AT-rich interaction domain 1A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arid1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}