{
  "url": "https://dantelabs.com/fi/genes/pigc",
  "gene": {
    "slug": "pigc",
    "symbol": "PIGC",
    "name": "phosphatidylinositol glycan anchor biosynthesis class C",
    "hgnc": "HGNC:8960",
    "summary": null,
    "location": "1q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "PIG-C",
      "GPI2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000135845",
    "entrezId": 5279,
    "omim": [
      "601730"
    ],
    "uniprot": [
      "Q92535"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 172441457,
      "end": 172444069,
      "strand": "-",
      "ensemblTranscript": "ENST00000344529.5",
      "refseqTranscript": "NM_153747.2",
      "ensemblProtein": "ENSP00000356701.3",
      "refseqProtein": "NP_714969.1",
      "exons": [
        {
          "start": 172441457,
          "end": 172442830
        },
        {
          "start": 172443988,
          "end": 172444069
        }
      ],
      "cds": {
        "start": 172441729,
        "end": 172442622
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 172339329,
      "end": 172413230,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 171942763,
      "end": 172942762,
      "genes": [
        {
          "symbol": "DNM3",
          "ensemblId": "ENSG00000197959",
          "biotype": "protein_coding",
          "start": 171817887,
          "end": 172418466,
          "strand": "+",
          "slug": "dnm3"
        },
        {
          "symbol": "C1orf105",
          "ensemblId": "ENSG00000180999",
          "biotype": "protein_coding",
          "start": 172420675,
          "end": 172469120,
          "strand": "+",
          "slug": "c1orf105"
        },
        {
          "symbol": "SUCO",
          "ensemblId": "ENSG00000094975",
          "biotype": "protein_coding",
          "start": 172532349,
          "end": 172613183,
          "strand": "+",
          "slug": "suco"
        },
        {
          "symbol": "FASLG",
          "ensemblId": "ENSG00000117560",
          "biotype": "protein_coding",
          "start": 172658990,
          "end": 172666891,
          "strand": "+",
          "slug": "faslg"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "gpi-anchor-biosynthesis-defects",
        "name": "GPI-ankkurin biosynteesin häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0024321",
            "name": "GPI-ankkurin biosynteesin häiriöt",
            "genes": 20,
            "inheritance": null,
            "description": "Ryhmä perinnöllisiä sairauksia, jotka johtuvat GPI-ankkurin muodostamiseen ja kiinnittämiseen tarvittavien PIG-, PGAP- ja niihin liittyvien geenien varianteista. Tyypillisiä oireita ovat kehityksen viivästyminen, matala lihasjänteys ja epilepsia.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/gpi-anchor-biosynthesis-defects"
      },
      {
        "slug": "intellectual-disability",
        "name": "Älyllinen kehitysvammaisuus",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "älyllinen kehitysvammaisuus",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-speech"
      }
    ],
    "related": [
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/pigg"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "shared": 2,
        "url": "https://dantelabs.com/fi/genes/pigl"
      },
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ap2m1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}