{
  "url": "https://dantelabs.com/nl/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": "Defecten in de biosynthese van het GPI-anker",
        "diseases": [
          {
            "mondoId": "MONDO:0016596",
            "name": "Hyperfosfatasie met verstoorde intellectuele ontwikkeling (Mabry-syndroom)",
            "genes": 6,
            "inheritance": "autosomal-recessive",
            "description": "Een groep defecten in het GPI-anker (PIGV, PIGO, PGAP2, PGAP3, PIGW, PIGY) waarbij een aanhoudend verhoogd alkalisch fosfatase samengaat met ontwikkelingsvertraging, epileptische aanvallen en korte eindkootjes van de vingers.",
            "management": "Bij sommige getroffen kinderen is de aanvalscontrole verbeterd met pyridoxine (vitamine B6). Een diagnose kan daarom een gerichte proefbehandeling door een specialist sturen.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0024321",
            "name": "Stoornissen in de biosynthese van het GPI-anker",
            "genes": 20,
            "inheritance": null,
            "description": "Een groep erfelijke aandoeningen veroorzaakt door varianten in de PIG-, PGAP- en verwante genen die nodig zijn om het GPI-anker aan te maken en te hechten. Meestal leiden ze tot ontwikkelingsvertraging, een lage spierspanning en epilepsie.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/gpi-anchor-biosynthesis-defects"
      },
      {
        "slug": "disorder-of-glycosylation",
        "name": "Congenitale glycosylatiestoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Congenitale glycosylatiestoornissen (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Een grote groep erfelijke aandoeningen waarbij suikerketens (glycanen) niet correct worden opgebouwd of aan eiwitten en lipiden worden gehecht, wat vaak gevolgen heeft voor de hersenen, de lever, de bloedstolling, de groei en veel andere lichaamssystemen. De meeste zijn autosomaal recessief, maar sommige zijn X-gebonden of autosomaal dominant.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/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/nl/genes/pgap2"
      },
      {
        "slug": "pgap3",
        "symbol": "PGAP3",
        "name": "post-GPI attachment to proteins phospholipase 3",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pgap3"
      },
      {
        "slug": "pigo",
        "symbol": "PIGO",
        "name": "phosphatidylinositol glycan anchor biosynthesis class O",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pigo"
      },
      {
        "slug": "pigv",
        "symbol": "PIGV",
        "name": "phosphatidylinositol glycan anchor biosynthesis class V",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pigv"
      },
      {
        "slug": "pigy",
        "symbol": "PIGY",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Y",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pigy"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/piga"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/pigg"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/pigl"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/pign"
      },
      {
        "slug": "pigt",
        "symbol": "PIGT",
        "name": "phosphatidylinositol glycan anchor biosynthesis class T",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/pigt"
      },
      {
        "slug": "st3gal5",
        "symbol": "ST3GAL5",
        "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 5",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/st3gal5"
      },
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/a4galt"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}