{
  "url": "https://dantelabs.com/sv/genes/pigw",
  "gene": {
    "slug": "pigw",
    "symbol": "PIGW",
    "name": "phosphatidylinositol glycan anchor biosynthesis class W",
    "hgnc": "HGNC:23213",
    "summary": null,
    "location": "17q12",
    "locusType": "gene with protein product",
    "aliases": [
      "Gwt1",
      "FLJ37433",
      "PIG-W"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000277161",
    "entrezId": 284098,
    "omim": [
      "610275"
    ],
    "uniprot": [
      "Q7Z7B1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 36534987,
      "end": 36539303,
      "strand": "+",
      "ensemblTranscript": "ENST00000614443.2",
      "refseqTranscript": "NM_001346754.2",
      "ensemblProtein": "ENSP00000482202.1",
      "refseqProtein": "NP_001333683.1",
      "exons": [
        {
          "start": 36534987,
          "end": 36535592
        },
        {
          "start": 36537094,
          "end": 36539303
        }
      ],
      "cds": {
        "start": 36537102,
        "end": 36538616
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 34890847,
      "end": 34895159,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 36037145,
      "end": 37037144,
      "genes": [
        {
          "symbol": "CCL18",
          "ensemblId": "ENSG00000275385",
          "biotype": "protein_coding",
          "start": 36064228,
          "end": 36072032,
          "strand": "+",
          "slug": "ccl18"
        },
        {
          "symbol": "CCL3",
          "ensemblId": "ENSG00000277632",
          "biotype": "protein_coding",
          "start": 36088256,
          "end": 36090169,
          "strand": "-",
          "slug": "ccl3"
        },
        {
          "symbol": "CCL4",
          "ensemblId": "ENSG00000275302",
          "biotype": "protein_coding",
          "start": 36103588,
          "end": 36105627,
          "strand": "+",
          "slug": "ccl4"
        },
        {
          "symbol": "TBC1D3B",
          "ensemblId": "ENSG00000274808",
          "biotype": "protein_coding",
          "start": 36165683,
          "end": 36176636,
          "strand": "-",
          "slug": "tbc1d3b"
        },
        {
          "symbol": "CCL3L3",
          "ensemblId": "ENSG00000276085",
          "biotype": "protein_coding",
          "start": 36194869,
          "end": 36196758,
          "strand": "-",
          "slug": "ccl3l3"
        },
        {
          "symbol": "CCL4L2",
          "ensemblId": "ENSG00000276070",
          "biotype": "protein_coding",
          "start": 36210924,
          "end": 36212878,
          "strand": "+",
          "slug": "ccl4l2"
        },
        {
          "symbol": "TBC1D3I",
          "ensemblId": "ENSG00000274933",
          "biotype": "protein_coding",
          "start": 36253456,
          "end": 36264570,
          "strand": "-",
          "slug": "tbc1d3i"
        },
        {
          "symbol": "TBC1D3G",
          "ensemblId": "ENSG00000260287",
          "biotype": "protein_coding",
          "start": 36323884,
          "end": 36334759,
          "strand": "+",
          "slug": "tbc1d3g"
        },
        {
          "symbol": "TBC1D3H",
          "ensemblId": "ENSG00000274226",
          "biotype": "protein_coding",
          "start": 36377531,
          "end": 36388435,
          "strand": "-",
          "slug": "tbc1d3h"
        },
        {
          "symbol": "TBC1D3F",
          "ensemblId": "ENSG00000275954",
          "biotype": "protein_coding",
          "start": 36428612,
          "end": 36439566,
          "strand": "-",
          "slug": "tbc1d3f"
        },
        {
          "symbol": "ZNHIT3",
          "ensemblId": "ENSG00000273611",
          "biotype": "protein_coding",
          "start": 36486629,
          "end": 36499310,
          "strand": "+",
          "slug": "znhit3"
        },
        {
          "symbol": "MYO19",
          "ensemblId": "ENSG00000278259",
          "biotype": "protein_coding",
          "start": 36495118,
          "end": 36545889,
          "strand": "-",
          "slug": "myo19"
        },
        {
          "symbol": "GGNBP2",
          "ensemblId": "ENSG00000278311",
          "biotype": "protein_coding",
          "start": 36544888,
          "end": 36589866,
          "strand": "+",
          "slug": "ggnbp2"
        },
        {
          "symbol": "DHRS11",
          "ensemblId": "ENSG00000278535",
          "biotype": "protein_coding",
          "start": 36591782,
          "end": 36600809,
          "strand": "+",
          "slug": "dhrs11"
        },
        {
          "symbol": "MRM1",
          "ensemblId": "ENSG00000278619",
          "biotype": "protein_coding",
          "start": 36601571,
          "end": 36621636,
          "strand": "+",
          "slug": "mrm1"
        },
        {
          "symbol": "LHX1",
          "ensemblId": "ENSG00000273706",
          "biotype": "protein_coding",
          "start": 36936784,
          "end": 36944612,
          "strand": "+",
          "slug": "lhx1"
        },
        {
          "symbol": "AATF",
          "ensemblId": "ENSG00000275700",
          "biotype": "protein_coding",
          "start": 36948925,
          "end": 37056874,
          "strand": "+",
          "slug": "aatf"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "gpi-anchor-biosynthesis-defects",
        "name": "Defekter i GPI-ankarbiosyntesen",
        "diseases": [
          {
            "mondoId": "MONDO:0016596",
            "name": "Hyperfosfatasi med nedsatt intellektuell utveckling (Mabrys syndrom)",
            "genes": 6,
            "inheritance": "autosomal-recessive",
            "description": "En grupp GPI-ankardefekter (PIGV, PIGO, PGAP2, PGAP3, PIGW, PIGY) där ett ihållande förhöjt alkaliskt fosfatas förekommer tillsammans med utvecklingsförsening, kramper och korta ändben i fingrarna.",
            "management": "Vissa drabbade barn har fått förbättrad kramp­kontroll med pyridoxin (vitamin B6), så en diagnos kan vägleda en behandlingsprövning under specialistledning.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0024321",
            "name": "Sjukdomar i GPI-ankarbiosyntesen",
            "genes": 20,
            "inheritance": null,
            "description": "En grupp ärftliga tillstånd orsakade av varianter i generna PIG, PGAP och relaterade gener som behövs för att bilda och fästa GPI-ankaret. De leder typiskt till utvecklingsförsening, lågt muskeltonus och epilepsi.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/gpi-anchor-biosynthesis-defects"
      },
      {
        "slug": "disorder-of-glycosylation",
        "name": "Medfødda glykosyleringsrubbningar",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Medfödda glykosyleringsrubbningar (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "En stor grupp ärftliga tillstånd där sockerkedjor (glykaner) inte byggs eller fästs korrekt på proteiner och lipider, ofta med påverkan på hjärnan, levern, blodkoagulationen, tillväxten och många andra organsystem. De flesta är autosomalt recessiva, men vissa är X-bundna eller autosomalt dominanta.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-parietal-bone-morphology",
        "name": "Abnormal parietal bone morphology",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-parietal-bone-morphology"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "supernumerary-nipple",
        "name": "Accessory nipple",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supernumerary-nipple"
      },
      {
        "slug": "anteriorly-placed-anus",
        "name": "Anteriorly placed anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteriorly-placed-anus"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "long-palpebral-fissure",
        "name": "Broad opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-palpebral-fissure"
      },
      {
        "slug": "broad-philtrum",
        "name": "Broad philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-philtrum"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "cerebral-hypomyelination",
        "name": "Cerebral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-hypomyelination"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "decreased-head-circumference",
        "name": "Decreased head circumference",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-head-circumference"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "downturned-corners-of-mouth",
        "name": "Downturned corners of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downturned-corners-of-mouth"
      },
      {
        "slug": "eeg-with-polyspike-wave-complexes",
        "name": "EEG with polyspike wave complexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-with-polyspike-wave-complexes"
      },
      {
        "slug": "eeg-with-spike-wave-complexes",
        "name": "EEG with spike-wave complexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-with-spike-wave-complexes"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "gastrostomy-tube-feeding-in-infancy",
        "name": "Gastrostomy tube feeding in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "increased-head-circumference",
        "name": "Increased head circumference",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-head-circumference"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "single-umbilical-artery",
        "name": "Only one artery in umbilical cord instead of two",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/single-umbilical-artery"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "shallow-anterior-chamber",
        "name": "Shallow anterior chamber",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shallow-anterior-chamber"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "shortening-of-all-distal-phalanges-of-the-fingers",
        "name": "Shortening of all outermost bones of the fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/shortening-of-all-distal-phalanges-of-the-fingers"
      },
      {
        "slug": "small-nail",
        "name": "Small nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-nail"
      },
      {
        "slug": "telangiectasia",
        "name": "Spider veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/telangiectasia"
      },
      {
        "slug": "tented-upper-lip-vermilion",
        "name": "Tented mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion"
      },
      {
        "slug": "thickened-helices",
        "name": "Thickened helices",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thickened-helices"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "widened-subarachnoid-space",
        "name": "Widened subarachnoid space",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/widened-subarachnoid-space"
      }
    ],
    "related": [
      {
        "slug": "pgap2",
        "symbol": "PGAP2",
        "name": "post-GPI attachment to proteins 2",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/pgap2"
      },
      {
        "slug": "pgap3",
        "symbol": "PGAP3",
        "name": "post-GPI attachment to proteins phospholipase 3",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/pgap3"
      },
      {
        "slug": "pigo",
        "symbol": "PIGO",
        "name": "phosphatidylinositol glycan anchor biosynthesis class O",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/pigo"
      },
      {
        "slug": "pigv",
        "symbol": "PIGV",
        "name": "phosphatidylinositol glycan anchor biosynthesis class V",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/pigv"
      },
      {
        "slug": "pigy",
        "symbol": "PIGY",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Y",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/pigy"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/piga"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/pigg"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/pigl"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/pign"
      },
      {
        "slug": "pigt",
        "symbol": "PIGT",
        "name": "phosphatidylinositol glycan anchor biosynthesis class T",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/pigt"
      },
      {
        "slug": "st3gal5",
        "symbol": "ST3GAL5",
        "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 5",
        "shared": 2,
        "url": "https://dantelabs.com/sv/genes/st3gal5"
      },
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/a4galt"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}