{
  "url": "https://dantelabs.com/hu/genes/sash3",
  "gene": {
    "slug": "sash3",
    "symbol": "SASH3",
    "name": "SAM and SH3 domain containing 3",
    "hgnc": "HGNC:15975",
    "summary": null,
    "location": "Xq26.1",
    "locusType": "gene with protein product",
    "aliases": [
      "SLY",
      "753P9",
      "SH3D6C",
      "HACS2"
    ],
    "previousSymbols": [
      "CXorf9"
    ],
    "ensemblId": "ENSG00000122122",
    "entrezId": 54440,
    "omim": [
      "300441"
    ],
    "uniprot": [
      "O75995"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 129779949,
      "end": 129795201,
      "strand": "+",
      "ensemblTranscript": "ENST00000356892.4",
      "refseqTranscript": "NM_018990.4",
      "ensemblProtein": "ENSP00000349359.3",
      "refseqProtein": "NP_061863.1",
      "exons": [
        {
          "start": 129779949,
          "end": 129780154
        },
        {
          "start": 129787975,
          "end": 129788070
        },
        {
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          "end": 129788577
        },
        {
          "start": 129790940,
          "end": 129791081
        },
        {
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        },
        {
          "start": 129792627,
          "end": 129792836
        },
        {
          "start": 129792989,
          "end": 129793139
        },
        {
          "start": 129793642,
          "end": 129795201
        }
      ],
      "cds": {
        "start": 129780098,
        "end": 129793832
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 128913955,
      "end": 128929177,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 129287575,
      "end": 130287574,
      "genes": [
        {
          "symbol": "SMARCA1",
          "ensemblId": "ENSG00000102038",
          "biotype": "protein_coding",
          "start": 129446402,
          "end": 129523947,
          "strand": "-",
          "slug": "smarca1"
        },
        {
          "symbol": "OCRL",
          "ensemblId": "ENSG00000122126",
          "biotype": "protein_coding",
          "start": 129539849,
          "end": 129592772,
          "strand": "+",
          "slug": "ocrl"
        },
        {
          "symbol": "APLN",
          "ensemblId": "ENSG00000171388",
          "biotype": "protein_coding",
          "start": 129645259,
          "end": 129654965,
          "strand": "-",
          "slug": "apln"
        },
        {
          "symbol": "XPNPEP2",
          "ensemblId": "ENSG00000122121",
          "biotype": "protein_coding",
          "start": 129738949,
          "end": 129770164,
          "strand": "+",
          "slug": "xpnpep2"
        },
        {
          "symbol": "ZDHHC9",
          "ensemblId": "ENSG00000188706",
          "biotype": "protein_coding",
          "start": 129797030,
          "end": 129844215,
          "strand": "-",
          "slug": "zdhhc9"
        },
        {
          "symbol": "UTP14A",
          "ensemblId": "ENSG00000156697",
          "biotype": "protein_coding",
          "start": 129906114,
          "end": 129929957,
          "strand": "+",
          "slug": "utp14a"
        },
        {
          "symbol": "BCORL1",
          "ensemblId": "ENSG00000085185",
          "biotype": "protein_coding",
          "start": 129981107,
          "end": 130058071,
          "strand": "+",
          "slug": "bcorl1"
        },
        {
          "symbol": "ELF4",
          "ensemblId": "ENSG00000102034",
          "biotype": "protein_coding",
          "start": 130063955,
          "end": 130110951,
          "strand": "-",
          "slug": "elf4"
        },
        {
          "symbol": "AIFM1",
          "ensemblId": "ENSG00000156709",
          "biotype": "protein_coding",
          "start": 130124666,
          "end": 130165884,
          "strand": "-",
          "slug": "aifm1"
        },
        {
          "symbol": "RAB33A",
          "ensemblId": "ENSG00000134594",
          "biotype": "protein_coding",
          "start": 130171720,
          "end": 130184874,
          "strand": "+",
          "slug": "rab33a"
        },
        {
          "symbol": "ZNF280C",
          "ensemblId": "ENSG00000056277",
          "biotype": "protein_coding",
          "start": 130202699,
          "end": 130268923,
          "strand": "-",
          "slug": "znf280c"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "severe-combined-immunodeficiency",
        "name": "Severe Combined Immunodeficiency",
        "diseases": [
          {
            "mondoId": "MONDO:0015974",
            "name": "Severe Combined Immunodeficiency",
            "genes": 31,
            "inheritance": "autosomal-recessive",
            "description": "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/severe-combined-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Other Inborn Errors of Immunity",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immunodeficiency Disease",
            "genes": 170,
            "inheritance": null,
            "description": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.",
            "management": "HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "autoimmune-neutropenia",
        "name": "Autoimmune neutropenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-neutropenia"
      },
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "aphthous-ulcer",
        "name": "Canker sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aphthous-ulcer"
      },
      {
        "slug": "chronic-rhinitis",
        "name": "Chronic rhinitis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-rhinitis"
      },
      {
        "slug": "chronic-sinusitis",
        "name": "Chronic sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-sinusitis"
      },
      {
        "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": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "decreased-naive-cd4-t-cell-proportion",
        "name": "Decreased naive CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-naive-cd4-t-cell-proportion"
      },
      {
        "slug": "decreased-naive-cd8-t-cell-proportion",
        "name": "Decreased naive CD8+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-naive-cd8-t-cell-proportion"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "increased-cd8-temra-t-cell-proportion",
        "name": "Increased CD8+ TEMRA T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-cd8-temra-t-cell-proportion"
      },
      {
        "slug": "increased-circulating-interleukin-6-concentration",
        "name": "Increased circulating interleukin 6 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-6-concentration"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "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": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "nodular-regenerative-hyperplasia-of-liver",
        "name": "Nodular regenerative hyperplasia of liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nodular-regenerative-hyperplasia-of-liver"
      },
      {
        "slug": "partial-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide",
        "name": "Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/partial-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "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": "severe-influenza-infection",
        "name": "Severe influenza infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-influenza-infection"
      },
      {
        "slug": "severe-varicella-zoster-infection",
        "name": "Severe varicella zoster infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-varicella-zoster-infection"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "verrucae",
        "name": "Warts",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/verrucae"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ada"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ak2"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/bcl11b"
      },
      {
        "slug": "card11",
        "symbol": "CARD11",
        "name": "caspase recruitment domain family member 11",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/card11"
      },
      {
        "slug": "carmil2",
        "symbol": "CARMIL2",
        "name": "capping protein regulator and myosin 1 linker 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/carmil2"
      },
      {
        "slug": "cd247",
        "symbol": "CD247",
        "name": "CD247 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cd247"
      },
      {
        "slug": "cd3d",
        "symbol": "CD3D",
        "name": "CD3 delta subunit of T-cell receptor complex",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cd3d"
      },
      {
        "slug": "cd3e",
        "symbol": "CD3E",
        "name": "CD3 epsilon subunit of T-cell receptor complex",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cd3e"
      },
      {
        "slug": "cd70",
        "symbol": "CD70",
        "name": "CD70 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cd70"
      },
      {
        "slug": "ciita",
        "symbol": "CIITA",
        "name": "class II major histocompatibility complex transactivator",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ciita"
      },
      {
        "slug": "coro1a",
        "symbol": "CORO1A",
        "name": "coronin 1A",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/coro1a"
      },
      {
        "slug": "dclre1c",
        "symbol": "DCLRE1C",
        "name": "DNA cross-link repair 1C",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dclre1c"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}