{
  "url": "https://dantelabs.com/el/genes/mcm9",
  "gene": {
    "slug": "mcm9",
    "symbol": "MCM9",
    "name": "minichromosome maintenance 9 homologous recombination repair factor",
    "hgnc": "HGNC:21484",
    "summary": null,
    "location": "6q22.31",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC35304",
      "dJ329L24.3",
      "FLJ20170"
    ],
    "previousSymbols": [
      "MCMDC1",
      "C6orf61"
    ],
    "ensemblId": "ENSG00000111877",
    "entrezId": 254394,
    "omim": [
      "610098"
    ],
    "uniprot": [
      "Q9NXL9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 118813455,
      "end": 118935159,
      "strand": "-",
      "ensemblTranscript": "ENST00000619706.5",
      "refseqTranscript": "NM_017696.3",
      "ensemblProtein": "ENSP00000480469.1",
      "refseqProtein": "NP_060166.2",
      "exons": [
        {
          "start": 118813455,
          "end": 118816294
        },
        {
          "start": 118826147,
          "end": 118826292
        },
        {
          "start": 118826782,
          "end": 118826864
        },
        {
          "start": 118827927,
          "end": 118828130
        },
        {
          "start": 118829048,
          "end": 118829250
        },
        {
          "start": 118856371,
          "end": 118856545
        },
        {
          "start": 118911650,
          "end": 118911769
        },
        {
          "start": 118913295,
          "end": 118913420
        },
        {
          "start": 118917561,
          "end": 118917761
        },
        {
          "start": 118922005,
          "end": 118922086
        },
        {
          "start": 118923811,
          "end": 118924127
        },
        {
          "start": 118931420,
          "end": 118931738
        },
        {
          "start": 118932607,
          "end": 118932740
        },
        {
          "start": 118934891,
          "end": 118935159
        }
      ],
      "cds": {
        "start": 118814824,
        "end": 118931723
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 119134605,
      "end": 119256327,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 118374307,
      "end": 119374306,
      "genes": [
        {
          "symbol": "CEP85L",
          "ensemblId": "ENSG00000111860",
          "biotype": "protein_coding",
          "start": 118460760,
          "end": 118710098,
          "strand": "-",
          "slug": "cep85l"
        },
        {
          "symbol": "PLN",
          "ensemblId": "ENSG00000198523",
          "biotype": "protein_coding",
          "start": 118506292,
          "end": 118562853,
          "strand": "+",
          "slug": "pln"
        },
        {
          "symbol": "ASF1A",
          "ensemblId": "ENSG00000111875",
          "biotype": "protein_coding",
          "start": 118894020,
          "end": 118909264,
          "strand": "+",
          "slug": "asf1a"
        },
        {
          "symbol": "FAM184A",
          "ensemblId": "ENSG00000111879",
          "biotype": "protein_coding",
          "start": 118957707,
          "end": 119149387,
          "strand": "-",
          "slug": "fam184a"
        },
        {
          "symbol": "MAN1A1",
          "ensemblId": "ENSG00000111885",
          "biotype": "protein_coding",
          "start": 119177116,
          "end": 119349798,
          "strand": "-",
          "slug": "man1a1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "female-infertility",
        "name": "Γυναικεία υπογονιμότητα",
        "diseases": [
          {
            "mondoId": "MONDO:1060226",
            "name": "Γονιδιακή ανεπάρκεια γαμετογένεσης σχετιζόμενη με το MCM9",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Υπολειπόμενη πάθηση που προκαλείται από διαλληλικές παραλλαγές του MCM9 και οδηγεί σε πρωτοπαθή ωοθηκική ανεπάρκεια ή εξασθένηση της παραγωγής σπέρματος, ενώ προδιαθέτει επίσης σε πολυποδίαση του παχέος εντέρου και σε καρκίνο του παχέος εντέρου και του στομάχου με πρώιμη εμφάνιση.",
            "management": "Η διάγνωση καθιστά απαραίτητη την παρακολούθηση για καρκίνο του εντέρου και του στομάχου, εκτός από την ιατρική φροντίδα για τη γονιμότητα.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0021124",
            "name": "Γυναικεία υπογονιμότητα",
            "genes": 37,
            "inheritance": null,
            "description": "Μειωμένη ή απούσα ικανότητα μιας γυναίκας να επιτύχει σύλληψη.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/female-infertility"
      },
      {
        "slug": "male-infertility",
        "name": "Ανδρική υπογονιμότητα",
        "diseases": [
          {
            "mondoId": "MONDO:1060226",
            "name": "Γονιδιακή ανεπάρκεια γαμετογένεσης σχετιζόμενη με το MCM9",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Υπολειπόμενη πάθηση που προκαλείται από διαλληλικές παραλλαγές του MCM9 και οδηγεί σε πρωτοπαθή ωοθηκική ανεπάρκεια ή εξασθενημένη παραγωγή σπερματοζωαρίων, ενώ προδιαθέτει επίσης σε πολύποδες του παχέος εντέρου και σε καρκίνο του παχέος εντέρου και του στομάχου με πρώιμη εμφάνιση.",
            "management": "Η διάγνωση δικαιολογεί παρακολούθηση για καρκίνο του εντέρου και του στομάχου, εκτός από την ιατρική φροντίδα για τη γονιμότητα.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/male-infertility"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-body-weight",
        "name": "Decreased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-body-weight"
      },
      {
        "slug": "decreased-serum-estradiol",
        "name": "Decreased serum estradiol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-serum-estradiol"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "elevated-circulating-follicle-stimulating-hormone-level",
        "name": "Elevated circulating follicle stimulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      }
    ],
    "related": [
      {
        "slug": "ankrd31",
        "symbol": "ANKRD31",
        "name": "ankyrin repeat domain 31",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ankrd31"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atm"
      },
      {
        "slug": "bmp15",
        "symbol": "BMP15",
        "name": "bone morphogenetic protein 15",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bmp15"
      },
      {
        "slug": "bnc1",
        "symbol": "BNC1",
        "name": "basonuclin zinc finger protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bnc1"
      },
      {
        "slug": "clpp",
        "symbol": "CLPP",
        "name": "caseinolytic mitochondrial matrix peptidase proteolytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/clpp"
      },
      {
        "slug": "cyp19a1",
        "symbol": "CYP19A1",
        "name": "cytochrome P450 family 19 subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cyp19a1"
      },
      {
        "slug": "fancm",
        "symbol": "FANCM",
        "name": "FA complementation group M",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/fancm"
      },
      {
        "slug": "figla",
        "symbol": "FIGLA",
        "name": "folliculogenesis specific bHLH transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/figla"
      },
      {
        "slug": "fmr1",
        "symbol": "FMR1",
        "name": "fragile X messenger ribonucleoprotein 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/fmr1"
      },
      {
        "slug": "foxl2",
        "symbol": "FOXL2",
        "name": "forkhead box L2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/foxl2"
      },
      {
        "slug": "fshr",
        "symbol": "FSHR",
        "name": "follicle stimulating hormone receptor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/fshr"
      },
      {
        "slug": "galt",
        "symbol": "GALT",
        "name": "galactose-1-phosphate uridylyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/galt"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}