{
  "url": "https://dantelabs.com/fi/genes/tgm5",
  "gene": {
    "slug": "tgm5",
    "symbol": "TGM5",
    "name": "transglutaminase 5",
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      "TGMX"
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    "entrezId": 9333,
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    "uniprot": [
      "O43548"
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      "release": "v1.5",
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      "ensemblTranscript": "ENST00000220420.10",
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    },
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      "build": "GRCh37",
      "release": "87",
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      "end": 43559055,
      "strand": "-"
    },
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      "genes": [
        {
          "symbol": "TTBK2",
          "ensemblId": "ENSG00000128881",
          "biotype": "protein_coding",
          "start": 42738730,
          "end": 42920850,
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          "slug": "ttbk2"
        },
        {
          "symbol": "UBR1",
          "ensemblId": "ENSG00000159459",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "TMEM62",
          "ensemblId": "ENSG00000137842",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000285117",
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        {
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        {
          "symbol": "EPB42",
          "ensemblId": "ENSG00000166947",
          "biotype": "protein_coding",
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        {
          "symbol": "TGM7",
          "ensemblId": "ENSG00000159495",
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          "slug": "tgm7"
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        {
          "symbol": "LCMT2",
          "ensemblId": "ENSG00000168806",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "MAPDA",
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        },
        {
          "symbol": "ZSCAN29",
          "ensemblId": "ENSG00000140265",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "TUBGCP4",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "tubgcp4"
        },
        {
          "symbol": "TP53BP1",
          "ensemblId": "ENSG00000067369",
          "biotype": "protein_coding",
          "start": 43403061,
          "end": 43510728,
          "strand": "-",
          "slug": "tp53bp1"
        },
        {
          "symbol": "MAP1A",
          "ensemblId": "ENSG00000166963",
          "biotype": "protein_coding",
          "start": 43510946,
          "end": 43531620,
          "strand": "+",
          "slug": "map1a"
        },
        {
          "symbol": "PPIP5K1",
          "ensemblId": "ENSG00000168781",
          "biotype": "protein_coding",
          "start": 43533462,
          "end": 43590228,
          "strand": "-",
          "slug": "ppip5k1"
        },
        {
          "symbol": "CKMT1B",
          "ensemblId": "ENSG00000237289",
          "biotype": "protein_coding",
          "start": 43593054,
          "end": 43604901,
          "strand": "+",
          "slug": "ckmt1b"
        },
        {
          "symbol": "STRC",
          "ensemblId": "ENSG00000242866",
          "biotype": "protein_coding",
          "start": 43597892,
          "end": 43618800,
          "strand": "-",
          "slug": "strc"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284772",
          "biotype": "protein_coding",
          "start": 43614208,
          "end": 43632283,
          "strand": "-"
        },
        {
          "symbol": "CATSPER2",
          "ensemblId": "ENSG00000166762",
          "biotype": "protein_coding",
          "start": 43628503,
          "end": 43668118,
          "strand": "-",
          "slug": "catsper2"
        },
        {
          "symbol": "CKMT1A",
          "ensemblId": "ENSG00000223572",
          "biotype": "protein_coding",
          "start": 43692886,
          "end": 43702501,
          "strand": "+",
          "slug": "ckmt1a"
        },
        {
          "symbol": "PDIA3",
          "ensemblId": "ENSG00000167004",
          "biotype": "protein_coding",
          "start": 43746364,
          "end": 43773279,
          "strand": "+",
          "slug": "pdia3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-ichthyoses",
        "name": "Perinnölliset ikthyoosit",
        "diseases": [
          {
            "mondoId": "MONDO:0019347",
            "name": "Kuoriutuvan ihon oireyhtymä",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Ryhmä sairauksia, joissa ihon ulompi kerros irtoaa helposti joko koko kehossa tai pääasiassa käsissä ja jaloissa.",
            "management": "Kitkan, kuumuuden ja kosteuden välttäminen vähentää kuoriutumista.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/inherited-ichthyoses"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "allergy",
        "name": "Allergy",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/allergy"
      },
      {
        "slug": "cleavage-at-junction-of-stratum-corneum-and-stratum-granulosum",
        "name": "Cleavage at junction of stratum corneum and stratum granulosum",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cleavage-at-junction-of-stratum-corneum-and-stratum-granulosum"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "papule",
        "name": "Papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/papule"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "excessive-wrinkling-of-palmar-skin",
        "name": "Redundant, wrinkled skin of palms",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-wrinkling-of-palmar-skin"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "high-hypermetropia",
        "name": "Severe farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-hypermetropia"
      },
      {
        "slug": "skin-erosion",
        "name": "Skin erosion",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-erosion"
      }
    ],
    "related": [
      {
        "slug": "cdsn",
        "symbol": "CDSN",
        "name": "corneodesmosin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cdsn"
      },
      {
        "slug": "csta",
        "symbol": "CSTA",
        "name": "cystatin A",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/csta"
      },
      {
        "slug": "flg2",
        "symbol": "FLG2",
        "name": "filaggrin 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/flg2"
      },
      {
        "slug": "serpinb8",
        "symbol": "SERPINB8",
        "name": "serpin family B member 8",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/serpinb8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}