{
  "url": "https://dantelabs.com/el/genes/mysm1",
  "gene": {
    "slug": "mysm1",
    "symbol": "MYSM1",
    "name": "Myb like, SWIRM and MPN domains 1",
    "hgnc": "HGNC:29401",
    "summary": null,
    "location": "1p32.1",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA1915"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000162601",
    "entrezId": 114803,
    "omim": [
      "612176"
    ],
    "uniprot": [
      "Q5VVJ2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 58654743,
      "end": 58700062,
      "strand": "-",
      "ensemblTranscript": "ENST00000472487.6",
      "refseqTranscript": "NM_001085487.3",
      "ensemblProtein": "ENSP00000418734.1",
      "refseqProtein": "NP_001078956.1",
      "exons": [
        {
          "start": 58654743,
          "end": 58660155
        },
        {
          "start": 58661170,
          "end": 58661227
        },
        {
          "start": 58661406,
          "end": 58661511
        },
        {
          "start": 58665499,
          "end": 58665631
        },
        {
          "start": 58667038,
          "end": 58667226
        },
        {
          "start": 58667847,
          "end": 58667921
        },
        {
          "start": 58668632,
          "end": 58668682
        },
        {
          "start": 58668984,
          "end": 58669038
        },
        {
          "start": 58671870,
          "end": 58671958
        },
        {
          "start": 58673573,
          "end": 58673650
        },
        {
          "start": 58675477,
          "end": 58675580
        },
        {
          "start": 58676926,
          "end": 58677056
        },
        {
          "start": 58681785,
          "end": 58682545
        },
        {
          "start": 58685153,
          "end": 58685251
        },
        {
          "start": 58689038,
          "end": 58689116
        },
        {
          "start": 58690226,
          "end": 58690249
        },
        {
          "start": 58690340,
          "end": 58690417
        },
        {
          "start": 58692861,
          "end": 58692931
        },
        {
          "start": 58695129,
          "end": 58695207
        },
        {
          "start": 58699985,
          "end": 58700062
        }
      ],
      "cds": {
        "start": 58659997,
        "end": 58700052
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 59120411,
      "end": 59165764,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 58177403,
      "end": 59177402,
      "genes": [
        {
          "symbol": "DAB1",
          "ensemblId": "ENSG00000173406",
          "biotype": "protein_coding",
          "start": 56994778,
          "end": 58546734,
          "strand": "-",
          "slug": "dab1"
        },
        {
          "symbol": "OMA1",
          "ensemblId": "ENSG00000162600",
          "biotype": "protein_coding",
          "start": 58415384,
          "end": 58546838,
          "strand": "-",
          "slug": "oma1"
        },
        {
          "symbol": "TACSTD2",
          "ensemblId": "ENSG00000184292",
          "biotype": "protein_coding",
          "start": 58575433,
          "end": 58577252,
          "strand": "-",
          "slug": "tacstd2"
        },
        {
          "symbol": "JUN",
          "ensemblId": "ENSG00000177606",
          "biotype": "protein_coding",
          "start": 58776845,
          "end": 58784048,
          "strand": "-",
          "slug": "jun"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-inherited-bone-marrow-failure-syndromes",
        "name": "Σπάνια κληρονομικά σύνδρομα μυελικής ανεπάρκειας",
        "diseases": [
          {
            "mondoId": "MONDO:0000159",
            "name": "Σύνδρομο μυελικής ανεπάρκειας",
            "genes": 5,
            "inheritance": null,
            "description": "Μια ομάδα σπάνιων παθήσεων που συνδέονται με γονίδια όπως τα DNAJC21, MYSM1 και SRP72, καθώς και με τον συνδυασμένο έλλειμμα ADH5 και ALDH2 (σύνδρομο AMED). Προκαλούν χαμηλό αριθμό κυττάρων του αίματος, μερικές φορές με αναπτυξιακά ή άλλα χαρακτηριστικά.",
            "management": "Η διάγνωση καθοδηγεί την επιλογή συγγενών δοτών αιμopoietικών κυττάρων και την προετοιμασία της μεταμόσχευσης, και υποστηρίζει την παρακολούθηση για μυελοδυσπλαστικό σύνδρομο και λευχαιμία.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/rare-inherited-bone-marrow-failure-syndromes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-thorax-morphology",
        "name": "Abnormality of the chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-thorax-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-rare",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "broad-clavicle",
        "name": "Broad collarbone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-clavicle"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "erythroid-dysplasia",
        "name": "Erythroid dysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythroid-dysplasia"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "panniculitis",
        "name": "Inflammation of fat tissue",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panniculitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "megakaryocyte-dysplasia",
        "name": "Megakaryocyte dysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/megakaryocyte-dysplasia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "noncompaction-cardiomyopathy",
        "name": "Noncompaction cardiomyopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/noncompaction-cardiomyopathy"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "reticulocytopenia",
        "name": "Reticulocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reticulocytopenia"
      },
      {
        "slug": "rhizomelic-arm-shortening",
        "name": "Rhizomelic arm shortening",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rhizomelic-arm-shortening"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-humerus",
        "name": "Short humerus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-humerus"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-metacarpal",
        "name": "Shortened long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-metacarpal"
      },
      {
        "slug": "cerebral-hypoplasia",
        "name": "Small cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-hypoplasia"
      },
      {
        "slug": "trigonocephaly",
        "name": "Triangular head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/trigonocephaly"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      }
    ],
    "related": [
      {
        "slug": "adh5",
        "symbol": "ADH5",
        "name": "alcohol dehydrogenase 5 (class III), chi polypeptide",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/adh5"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dnajc21"
      },
      {
        "slug": "ercc6l2",
        "symbol": "ERCC6L2",
        "name": "ERCC excision repair 6 like 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ercc6l2"
      },
      {
        "slug": "srp72",
        "symbol": "SRP72",
        "name": "signal recognition particle 72",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/srp72"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}