{
  "url": "https://dantelabs.com/sv/genes/msh4",
  "gene": {
    "slug": "msh4",
    "symbol": "MSH4",
    "name": "mutS homolog 4",
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    "location": "1p31.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
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    "entrezId": 4438,
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      "ensemblTranscript": "ENST00000263187.4",
      "refseqTranscript": "NM_002440.4",
      "ensemblProtein": "ENSP00000263187.3",
      "refseqProtein": "NP_002431.2",
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    },
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      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
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      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "SLC44A5",
          "ensemblId": "ENSG00000137968",
          "biotype": "protein_coding",
          "start": 75202129,
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          "strand": "-",
          "slug": "slc44a5"
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        {
          "symbol": "ACADM",
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          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "RABGGTB",
          "ensemblId": "ENSG00000137955",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "rabggtb"
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        {
          "symbol": "ASB17",
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        {
          "symbol": "ST6GALNAC3",
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          "strand": "+",
          "slug": "st6galnac3"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "female-infertility",
        "name": "Kvinnlig infertilitet",
        "diseases": [
          {
            "mondoId": "MONDO:0021124",
            "name": "Kvinnlig infertilitet",
            "genes": 37,
            "inheritance": null,
            "description": "Nedsatt eller frånvarande förmåga hos en kvinna att bli gravid.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/female-infertility"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-secondary-sexual-hair",
        "name": "Abnormality of secondary sexual hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-secondary-sexual-hair"
      },
      {
        "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": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-breasts",
        "name": "Absent/small breasts",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-breasts"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-uterus",
        "name": "Absent/small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uterus"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "slug": "decreased-serum-estradiol",
        "name": "Decreased serum estradiol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-estradiol"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "premature-ovarian-insufficiency",
        "name": "Early menopause",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency"
      },
      {
        "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": "elevated-circulating-luteinizing-hormone-level",
        "name": "Elevated circulating luteinizing hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level"
      },
      {
        "slug": "female-infertility",
        "name": "Female infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/female-infertility"
      },
      {
        "slug": "gonadal-dysgenesis",
        "name": "Gonadal dysgenesis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gonadal-dysgenesis"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "oligozoospermia",
        "name": "Low sperm count",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/oligozoospermia"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "non-obstructive-azoospermia",
        "name": "Non-obstructive azoospermia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/non-obstructive-azoospermia"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis-of-vertebrae",
        "name": "Osteoporosis of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis-of-vertebrae"
      },
      {
        "slug": "secondary-amenorrhea",
        "name": "Previous menstrual periods stop",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-amenorrhea"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "streak-ovary",
        "name": "Streak ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/streak-ovary"
      }
    ],
    "related": [
      {
        "slug": "ankrd31",
        "symbol": "ANKRD31",
        "name": "ankyrin repeat domain 31",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ankrd31"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atm"
      },
      {
        "slug": "bmp15",
        "symbol": "BMP15",
        "name": "bone morphogenetic protein 15",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bmp15"
      },
      {
        "slug": "bnc1",
        "symbol": "BNC1",
        "name": "basonuclin zinc finger protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bnc1"
      },
      {
        "slug": "clpp",
        "symbol": "CLPP",
        "name": "caseinolytic mitochondrial matrix peptidase proteolytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/clpp"
      },
      {
        "slug": "cyp19a1",
        "symbol": "CYP19A1",
        "name": "cytochrome P450 family 19 subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cyp19a1"
      },
      {
        "slug": "fancm",
        "symbol": "FANCM",
        "name": "FA complementation group M",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fancm"
      },
      {
        "slug": "figla",
        "symbol": "FIGLA",
        "name": "folliculogenesis specific bHLH transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/figla"
      },
      {
        "slug": "fmr1",
        "symbol": "FMR1",
        "name": "fragile X messenger ribonucleoprotein 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fmr1"
      },
      {
        "slug": "foxl2",
        "symbol": "FOXL2",
        "name": "forkhead box L2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/foxl2"
      },
      {
        "slug": "fshr",
        "symbol": "FSHR",
        "name": "follicle stimulating hormone receptor",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/fshr"
      },
      {
        "slug": "galt",
        "symbol": "GALT",
        "name": "galactose-1-phosphate uridylyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/galt"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}