{
  "url": "https://dantelabs.com/hu/genes/pigh",
  "gene": {
    "slug": "pigh",
    "symbol": "PIGH",
    "name": "phosphatidylinositol glycan anchor biosynthesis class H",
    "hgnc": "HGNC:8964",
    "summary": null,
    "location": "14q24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GPI-H"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000100564",
    "entrezId": 5283,
    "omim": [
      "600154"
    ],
    "uniprot": [
      "Q14442"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 67589318,
      "end": 67600268,
      "strand": "-",
      "ensemblTranscript": "ENST00000216452.9",
      "refseqTranscript": "NM_004569.5",
      "ensemblProtein": "ENSP00000216452.4",
      "refseqProtein": "NP_004560.1",
      "exons": [
        {
          "start": 67589318,
          "end": 67590172
        },
        {
          "start": 67592635,
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        },
        {
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          "end": 67593952
        },
        {
          "start": 67600024,
          "end": 67600268
        }
      ],
      "cds": {
        "start": 67590080,
        "end": 67600203
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 68048672,
      "end": 68067004,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 67094793,
      "end": 68094792,
      "genes": [
        {
          "symbol": "GPHN",
          "ensemblId": "ENSG00000171723",
          "biotype": "protein_coding",
          "start": 66507407,
          "end": 67181806,
          "strand": "+",
          "slug": "gphn"
        },
        {
          "symbol": "GARIN2",
          "ensemblId": "ENSG00000172717",
          "biotype": "protein_coding",
          "start": 67189328,
          "end": 67228550,
          "strand": "+",
          "slug": "garin2"
        },
        {
          "symbol": "PALS1",
          "ensemblId": "ENSG00000072415",
          "biotype": "protein_coding",
          "start": 67240713,
          "end": 67336061,
          "strand": "+",
          "slug": "pals1"
        },
        {
          "symbol": "ATP6V1D",
          "ensemblId": "ENSG00000100554",
          "biotype": "protein_coding",
          "start": 67294371,
          "end": 67360265,
          "strand": "-",
          "slug": "atp6v1d"
        },
        {
          "symbol": "EIF2S1",
          "ensemblId": "ENSG00000134001",
          "biotype": "protein_coding",
          "start": 67359993,
          "end": 67394395,
          "strand": "+",
          "slug": "eif2s1"
        },
        {
          "symbol": "PLEK2",
          "ensemblId": "ENSG00000100558",
          "biotype": "protein_coding",
          "start": 67385652,
          "end": 67412236,
          "strand": "-",
          "slug": "plek2"
        },
        {
          "symbol": "TMEM229B",
          "ensemblId": "ENSG00000198133",
          "biotype": "protein_coding",
          "start": 67447084,
          "end": 67533878,
          "strand": "-",
          "slug": "tmem229b"
        },
        {
          "symbol": "PLEKHH1",
          "ensemblId": "ENSG00000054690",
          "biotype": "protein_coding",
          "start": 67533063,
          "end": 67589725,
          "strand": "+",
          "slug": "plekhh1"
        },
        {
          "symbol": "ARG2",
          "ensemblId": "ENSG00000081181",
          "biotype": "protein_coding",
          "start": 67619857,
          "end": 67667328,
          "strand": "+",
          "slug": "arg2"
        },
        {
          "symbol": "VTI1B",
          "ensemblId": "ENSG00000100568",
          "biotype": "protein_coding",
          "start": 67635307,
          "end": 67674920,
          "strand": "-",
          "slug": "vti1b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258466",
          "biotype": "protein_coding",
          "start": 67659820,
          "end": 67690367,
          "strand": "-"
        },
        {
          "symbol": "RDH11",
          "ensemblId": "ENSG00000072042",
          "biotype": "protein_coding",
          "start": 67676792,
          "end": 67695793,
          "strand": "-",
          "slug": "rdh11"
        },
        {
          "symbol": "RDH12",
          "ensemblId": "ENSG00000139988",
          "biotype": "protein_coding",
          "start": 67701886,
          "end": 67734451,
          "strand": "+",
          "slug": "rdh12"
        },
        {
          "symbol": "ZFYVE26",
          "ensemblId": "ENSG00000072121",
          "biotype": "protein_coding",
          "start": 67727374,
          "end": 67816590,
          "strand": "-",
          "slug": "zfyve26"
        },
        {
          "symbol": "RAD51B",
          "ensemblId": "ENSG00000182185",
          "biotype": "protein_coding",
          "start": 67819741,
          "end": 68730218,
          "strand": "+",
          "slug": "rad51b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "gpi-anchor-biosynthesis-defects",
        "name": "GPI Anchor Biosynthesis Defects",
        "diseases": [
          {
            "mondoId": "MONDO:0024321",
            "name": "Disorders of GPI Anchor Biosynthesis",
            "genes": 20,
            "inheritance": null,
            "description": "A group of inherited conditions caused by variants in the PIG, PGAP and related genes needed to make and attach the GPI anchor, typically causing developmental delay, low muscle tone and epilepsy.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/gpi-anchor-biosynthesis-defects"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-ear-morphology",
        "name": "Abnormal ear morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-ear-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "chronic-otitis-media",
        "name": "Chronic infections of the middle ear",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-otitis-media"
      },
      {
        "slug": "clinodactyly-of-the-5th-toe",
        "name": "Clinodactyly of the 5th toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-toe"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "dysplastic-corpus-callosum",
        "name": "Dysplastic corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysplastic-corpus-callosum"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "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": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "nevus-spilus",
        "name": "Nevus spilus",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nevus-spilus"
      },
      {
        "slug": "overfriendliness",
        "name": "Overfriendliness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overfriendliness"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      }
    ],
    "related": [
      {
        "slug": "gpaa1",
        "symbol": "GPAA1",
        "name": "glycosylphosphatidylinositol anchor attachment 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gpaa1"
      },
      {
        "slug": "pgap2",
        "symbol": "PGAP2",
        "name": "post-GPI attachment to proteins 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pgap2"
      },
      {
        "slug": "pgap3",
        "symbol": "PGAP3",
        "name": "post-GPI attachment to proteins phospholipase 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pgap3"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/piga"
      },
      {
        "slug": "pigb",
        "symbol": "PIGB",
        "name": "phosphatidylinositol glycan anchor biosynthesis class B",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pigb"
      },
      {
        "slug": "pigc",
        "symbol": "PIGC",
        "name": "phosphatidylinositol glycan anchor biosynthesis class C",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pigc"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pigg"
      },
      {
        "slug": "pigk",
        "symbol": "PIGK",
        "name": "phosphatidylinositol glycan anchor biosynthesis class K",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pigk"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pigl"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pign"
      },
      {
        "slug": "pigo",
        "symbol": "PIGO",
        "name": "phosphatidylinositol glycan anchor biosynthesis class O",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pigo"
      },
      {
        "slug": "pigp",
        "symbol": "PIGP",
        "name": "phosphatidylinositol glycan anchor biosynthesis class P",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pigp"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}