{
  "url": "https://dantelabs.com/hu/genes/ercc6l2",
  "gene": {
    "slug": "ercc6l2",
    "symbol": "ERCC6L2",
    "name": "ERCC excision repair 6 like 2",
    "hgnc": "HGNC:26922",
    "summary": null,
    "location": "9q22.32",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ37706",
      "RAD26L",
      "HEBO"
    ],
    "previousSymbols": [
      "C9orf102"
    ],
    "ensemblId": "ENSG00000182150",
    "entrezId": 375748,
    "omim": [
      "615667"
    ],
    "uniprot": [
      "Q5T890"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 95875691,
      "end": 96018447,
      "strand": "+",
      "ensemblTranscript": "ENST00000653738.2",
      "refseqTranscript": "NM_020207.7",
      "ensemblProtein": "ENSP00000499221.2",
      "refseqProtein": "NP_064592.3",
      "exons": [
        {
          "start": 95875691,
          "end": 95876084
        },
        {
          "start": 95880869,
          "end": 95881293
        },
        {
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        },
        {
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        },
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        },
        {
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        },
        {
          "start": 95922305,
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        },
        {
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        },
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        },
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        },
        {
          "start": 95941454,
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        },
        {
          "start": 95955914,
          "end": 95956013
        },
        {
          "start": 95966562,
          "end": 95966714
        },
        {
          "start": 95970576,
          "end": 95970656
        },
        {
          "start": 95971933,
          "end": 95973088
        },
        {
          "start": 95978061,
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        },
        {
          "start": 96004520,
          "end": 96004701
        },
        {
          "start": 96012225,
          "end": 96018447
        }
      ],
      "cds": {
        "start": 95876039,
        "end": 96013203
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 98637983,
      "end": 98776842,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 95447069,
      "end": 96447068,
      "genes": [
        {
          "symbol": "PTCH1",
          "ensemblId": "ENSG00000185920",
          "biotype": "protein_coding",
          "start": 95442980,
          "end": 95517057,
          "strand": "-",
          "slug": "ptch1"
        },
        {
          "symbol": "HSD17B3",
          "ensemblId": "ENSG00000130948",
          "biotype": "protein_coding",
          "start": 96235306,
          "end": 96302219,
          "strand": "-",
          "slug": "hsd17b3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285269",
          "biotype": "protein_coding",
          "start": 96235331,
          "end": 96352058,
          "strand": "-"
        },
        {
          "symbol": "SLC35D2",
          "ensemblId": "ENSG00000130958",
          "biotype": "protein_coding",
          "start": 96312092,
          "end": 96383845,
          "strand": "-",
          "slug": "slc35d2"
        },
        {
          "symbol": "ZNF367",
          "ensemblId": "ENSG00000165244",
          "biotype": "protein_coding",
          "start": 96385838,
          "end": 96418470,
          "strand": "-",
          "slug": "znf367"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-inherited-bone-marrow-failure-syndromes",
        "name": "Rare Inherited Bone Marrow Failure Syndromes",
        "diseases": [
          {
            "mondoId": "MONDO:0000159",
            "name": "Bone Marrow Failure Syndrome",
            "genes": 5,
            "inheritance": null,
            "description": "A group of rare conditions linked to genes such as DNAJC21, MYSM1 and SRP72, and to combined ADH5 and ALDH2 deficiency (AMED syndrome), causing low blood counts, sometimes with developmental or other features.",
            "management": "A diagnosis informs the choice of related stem cell donors and transplant preparation, and supports monitoring for myelodysplastic syndrome and leukaemia.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/rare-inherited-bone-marrow-failure-syndromes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "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": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      }
    ],
    "related": [
      {
        "slug": "adh5",
        "symbol": "ADH5",
        "name": "alcohol dehydrogenase 5 (class III), chi polypeptide",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adh5"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dnajc21"
      },
      {
        "slug": "mysm1",
        "symbol": "MYSM1",
        "name": "Myb like, SWIRM and MPN domains 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mysm1"
      },
      {
        "slug": "srp72",
        "symbol": "SRP72",
        "name": "signal recognition particle 72",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/srp72"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}