{
  "url": "https://dantelabs.com/el/genes/dclre1b",
  "gene": {
    "slug": "dclre1b",
    "symbol": "DCLRE1B",
    "name": "DNA cross-link repair 1B",
    "hgnc": "HGNC:17641",
    "summary": null,
    "location": "1p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SNM1B",
      "FLJ12810",
      "FLJ13998",
      "APOLLO"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000118655",
    "entrezId": 64858,
    "omim": [
      "609683"
    ],
    "uniprot": [
      "Q9H816"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 113905326,
      "end": 113914086,
      "strand": "+",
      "ensemblTranscript": "ENST00000650450.2",
      "refseqTranscript": "NM_022836.4",
      "ensemblProtein": "ENSP00000498042.1",
      "refseqProtein": "NP_073747.1",
      "exons": [
        {
          "start": 113905326,
          "end": 113905775
        },
        {
          "start": 113906996,
          "end": 113907161
        },
        {
          "start": 113908009,
          "end": 113908191
        },
        {
          "start": 113911131,
          "end": 113914086
        }
      ],
      "cds": {
        "start": 113905587,
        "end": 113912191
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 114447763,
      "end": 114456708,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 113409706,
      "end": 114409705,
      "genes": [
        {
          "symbol": "MAGI3",
          "ensemblId": "ENSG00000081026",
          "biotype": "protein_coding",
          "start": 113390390,
          "end": 113687431,
          "strand": "+",
          "slug": "magi3"
        },
        {
          "symbol": "PHTF1",
          "ensemblId": "ENSG00000116793",
          "biotype": "protein_coding",
          "start": 113696052,
          "end": 113759908,
          "strand": "-",
          "slug": "phtf1"
        },
        {
          "symbol": "RSBN1",
          "ensemblId": "ENSG00000081019",
          "biotype": "protein_coding",
          "start": 113761429,
          "end": 113812551,
          "strand": "-",
          "slug": "rsbn1"
        },
        {
          "symbol": "PTPN22",
          "ensemblId": "ENSG00000134242",
          "biotype": "protein_coding",
          "start": 113813811,
          "end": 113871753,
          "strand": "-",
          "slug": "ptpn22"
        },
        {
          "symbol": "BCL2L15",
          "ensemblId": "ENSG00000188761",
          "biotype": "protein_coding",
          "start": 113876816,
          "end": 113887588,
          "strand": "-",
          "slug": "bcl2l15"
        },
        {
          "symbol": "AP4B1",
          "ensemblId": "ENSG00000134262",
          "biotype": "protein_coding",
          "start": 113894194,
          "end": 113905722,
          "strand": "-",
          "slug": "ap4b1"
        },
        {
          "symbol": "HIPK1",
          "ensemblId": "ENSG00000163349",
          "biotype": "protein_coding",
          "start": 113929324,
          "end": 113977869,
          "strand": "+",
          "slug": "hipk1"
        },
        {
          "symbol": "OLFML3",
          "ensemblId": "ENSG00000116774",
          "biotype": "protein_coding",
          "start": 113979024,
          "end": 114035572,
          "strand": "+",
          "slug": "olfml3"
        },
        {
          "symbol": "SYT6",
          "ensemblId": "ENSG00000134207",
          "biotype": "protein_coding",
          "start": 114089291,
          "end": 114153880,
          "strand": "-",
          "slug": "syt6"
        },
        {
          "symbol": "TRIM33",
          "ensemblId": "ENSG00000197323",
          "biotype": "protein_coding",
          "start": 114392781,
          "end": 114511244,
          "strand": "-",
          "slug": "trim33"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dyskeratosis-congenita",
        "name": "Συγγενής δυσκεράτωση",
        "diseases": [
          {
            "mondoId": "MONDO:0015780",
            "name": "Συγγενής δυσκεράτωση",
            "genes": 13,
            "inheritance": null,
            "description": "Η συγγενής δυσκεράτωση (DC) είναι μια σπάνια εκτοδερμική δυσπλασία που συχνά εκδηλώνεται με την κλασική τριάδα: δυσπλασία των νυχιών, μεταβολές της χρωμάτωσης του δέρματος και λευκοπλακία του στόματος. Σχετίζεται με υψηλό κίνδυνο αποτυχίας του μυελού των οστών (BMF) και καρκίνου.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/dyskeratosis-congenita"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "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": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "inflammation-of-the-large-intestine",
        "name": "Inflammation of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "esophageal-stricture",
        "name": "Narrowing of esophagus due to inflammation and scar tissue",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/esophageal-stricture"
      },
      {
        "slug": "oral-leukoplakia",
        "name": "Oral white patch",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oral-leukoplakia"
      },
      {
        "slug": "pancolitis",
        "name": "Pancolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancolitis"
      },
      {
        "slug": "petechiae",
        "name": "Petechiae",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/petechiae"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "reduced-total-natural-killer-cell-count",
        "name": "Reduced total natural killer cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      }
    ],
    "related": [
      {
        "slug": "acd",
        "symbol": "ACD",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/acd"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "name": "CST telomere replication complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ctc1"
      },
      {
        "slug": "dkc1",
        "symbol": "DKC1",
        "name": "dyskerin pseudouridine synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dkc1"
      },
      {
        "slug": "nhp2",
        "symbol": "NHP2",
        "name": "NHP2 ribonucleoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nhp2"
      },
      {
        "slug": "nop10",
        "symbol": "NOP10",
        "name": "NOP10 ribonucleoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nop10"
      },
      {
        "slug": "npm1",
        "symbol": "NPM1",
        "name": "nucleophosmin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/npm1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "name": "poly(A)-specific ribonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/parn"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "name": "regulator of telomere elongation helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/rtel1"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "name": "telomerase RNA component",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/terc"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "name": "telomerase reverse transcriptase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tert"
      },
      {
        "slug": "tinf2",
        "symbol": "TINF2",
        "name": "TERF1 interacting nuclear factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tinf2"
      },
      {
        "slug": "wrap53",
        "symbol": "WRAP53",
        "name": "WD repeat containing antisense to TP53",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/wrap53"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}