{
  "url": "https://dantelabs.com/traits/pachygyria",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "pachygyria",
    "id": "HP:0001302",
    "name": "Fewer and broader ridges in brain",
    "label": "Pachygyria",
    "definition": "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.",
    "synonyms": [
      "Cerebral pachygyria",
      "Macrogyria"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "url": "https://dantelabs.com/traits/lissencephaly"
      }
    ],
    "narrower": [
      {
        "slug": "thick-pachygyria",
        "name": "Thick pachygyria",
        "genes": 0,
        "url": "https://dantelabs.com/traits/thick-pachygyria"
      }
    ],
    "genes": [
      {
        "slug": "baiap2",
        "symbol": "BAIAP2",
        "hgnc": "HGNC:947",
        "name": "BAR/IMD domain containing adaptor protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baiap2"
      },
      {
        "slug": "camsap1",
        "symbol": "CAMSAP1",
        "hgnc": "HGNC:19946",
        "name": "calmodulin regulated spectrin associated protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/camsap1"
      },
      {
        "slug": "casp2",
        "symbol": "CASP2",
        "hgnc": "HGNC:1503",
        "name": "caspase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/casp2"
      },
      {
        "slug": "ccdc88a",
        "symbol": "CCDC88A",
        "hgnc": "HGNC:25523",
        "name": "coiled-coil and HOOK domain protein 88A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccdc88a"
      },
      {
        "slug": "crnkl1",
        "symbol": "CRNKL1",
        "hgnc": "HGNC:15762",
        "name": "crooked neck pre-mRNA splicing factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crnkl1"
      },
      {
        "slug": "ctnna2",
        "symbol": "CTNNA2",
        "hgnc": "HGNC:2510",
        "name": "catenin alpha 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnna2"
      },
      {
        "slug": "exosc5",
        "symbol": "EXOSC5",
        "hgnc": "HGNC:24662",
        "name": "exosome component 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exosc5"
      },
      {
        "slug": "isca1",
        "symbol": "ISCA1",
        "hgnc": "HGNC:28660",
        "name": "iron-sulfur cluster assembly 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/isca1"
      },
      {
        "slug": "kif2a",
        "symbol": "KIF2A",
        "hgnc": "HGNC:6318",
        "name": "kinesin family member 2A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif2a"
      },
      {
        "slug": "lamc3",
        "symbol": "LAMC3",
        "hgnc": "HGNC:6494",
        "name": "laminin subunit gamma 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamc3"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "macf1",
        "symbol": "MACF1",
        "hgnc": "HGNC:13664",
        "name": "microtubule actin crosslinking factor 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/macf1"
      },
      {
        "slug": "slc30a9",
        "symbol": "SLC30A9",
        "hgnc": "HGNC:1329",
        "name": "solute carrier family 30 member 9",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc30a9"
      },
      {
        "slug": "snap29",
        "symbol": "SNAP29",
        "hgnc": "HGNC:11133",
        "name": "synaptosome associated protein 29",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/snap29"
      },
      {
        "slug": "tctn2",
        "symbol": "TCTN2",
        "hgnc": "HGNC:25774",
        "name": "tectonic family member 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn2"
      },
      {
        "slug": "tubg1",
        "symbol": "TUBG1",
        "hgnc": "HGNC:12417",
        "name": "tubulin gamma 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubg1"
      },
      {
        "slug": "tubgcp2",
        "symbol": "TUBGCP2",
        "hgnc": "HGNC:18599",
        "name": "tubulin gamma complex component 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubgcp2"
      },
      {
        "slug": "wsb2",
        "symbol": "WSB2",
        "hgnc": "HGNC:19222",
        "name": "WD repeat and SOCS box containing 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wsb2"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "hgnc": "HGNC:144",
        "name": "actin gamma 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/actg1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "hgnc": "HGNC:28596",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galnt2"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "hgnc": "HGNC:15685",
        "name": "beta-1,4-glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b4gat1"
      },
      {
        "slug": "cep85l",
        "symbol": "CEP85L",
        "hgnc": "HGNC:21638",
        "name": "centrosomal protein 85L",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep85l"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "hgnc": "HGNC:2961",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync1h1"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "very-frequent",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "very-frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "nsdhl",
        "symbol": "NSDHL",
        "hgnc": "HGNC:13398",
        "name": "NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nsdhl"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomgnt2",
        "symbol": "POMGNT2",
        "hgnc": "HGNC:25902",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt2"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "rab18",
        "symbol": "RAB18",
        "hgnc": "HGNC:14244",
        "name": "RAB18, member RAS oncogene family",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab18"
      },
      {
        "slug": "rab3gap1",
        "symbol": "RAB3GAP1",
        "hgnc": "HGNC:17063",
        "name": "RAB3 GTPase activating protein catalytic subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab3gap1"
      },
      {
        "slug": "rab3gap2",
        "symbol": "RAB3GAP2",
        "hgnc": "HGNC:17168",
        "name": "RAB3 GTPase activating non-catalytic protein subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab3gap2"
      },
      {
        "slug": "rxylt1",
        "symbol": "RXYLT1",
        "hgnc": "HGNC:13530",
        "name": "ribitol xylosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rxylt1"
      },
      {
        "slug": "tbc1d20",
        "symbol": "TBC1D20",
        "hgnc": "HGNC:16133",
        "name": "TBC1 domain family member 20",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d20"
      },
      {
        "slug": "ankle2",
        "symbol": "ANKLE2",
        "hgnc": "HGNC:29101",
        "name": "ankyrin repeat and LEM domain containing 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankle2"
      },
      {
        "slug": "aspm",
        "symbol": "ASPM",
        "hgnc": "HGNC:19048",
        "name": "assembly factor for spindle microtubules",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspm"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "hgnc": "HGNC:18481",
        "name": "ATPase H+ transporting V0 subunit a2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp6v0a2"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "hgnc": "HGNC:851",
        "name": "ATPase H+ transporting V1 subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1a"
      },
      {
        "slug": "atp6v1e1",
        "symbol": "ATP6V1E1",
        "hgnc": "HGNC:857",
        "name": "ATPase H+ transporting V1 subunit E1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1e1"
      },
      {
        "slug": "cdk5rap2",
        "symbol": "CDK5RAP2",
        "hgnc": "HGNC:18672",
        "name": "CDK5 regulatory subunit associated protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk5rap2"
      },
      {
        "slug": "cdk6",
        "symbol": "CDK6",
        "hgnc": "HGNC:1777",
        "name": "cyclin dependent kinase 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk6"
      },
      {
        "slug": "cenpe",
        "symbol": "CENPE",
        "hgnc": "HGNC:1856",
        "name": "centromere protein E",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cenpe"
      },
      {
        "slug": "cep135",
        "symbol": "CEP135",
        "hgnc": "HGNC:29086",
        "name": "centrosomal protein 135",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep135"
      },
      {
        "slug": "cep152",
        "symbol": "CEP152",
        "hgnc": "HGNC:29298",
        "name": "centrosomal protein 152",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep152"
      },
      {
        "slug": "cep295",
        "symbol": "CEP295",
        "hgnc": "HGNC:29366",
        "name": "centrosomal protein 295",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep295"
      },
      {
        "slug": "cit",
        "symbol": "CIT",
        "hgnc": "HGNC:1985",
        "name": "citron rho-interacting serine/threonine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cit"
      },
      {
        "slug": "copb2",
        "symbol": "COPB2",
        "hgnc": "HGNC:2232",
        "name": "coat protein complex I subunit beta 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/copb2"
      },
      {
        "slug": "cpap",
        "symbol": "CPAP",
        "hgnc": "HGNC:17272",
        "name": "centrosome assembly and centriole elongation protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cpap"
      },
      {
        "slug": "csnk2a1",
        "symbol": "CSNK2A1",
        "hgnc": "HGNC:2457",
        "name": "casein kinase 2 alpha 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/csnk2a1"
      },
      {
        "slug": "dcx",
        "symbol": "DCX",
        "hgnc": "HGNC:2714",
        "name": "doublecortin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dcx"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "gon7",
        "symbol": "GON7",
        "hgnc": "HGNC:20356",
        "name": "GON7 subunit of KEOPS complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gon7"
      },
      {
        "slug": "katnb1",
        "symbol": "KATNB1",
        "hgnc": "HGNC:6217",
        "name": "katanin regulatory subunit B1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/katnb1"
      },
      {
        "slug": "kif14",
        "symbol": "KIF14",
        "hgnc": "HGNC:19181",
        "name": "kinesin family member 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif14"
      },
      {
        "slug": "knl1",
        "symbol": "KNL1",
        "hgnc": "HGNC:24054",
        "name": "kinetochore scaffold 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/knl1"
      },
      {
        "slug": "lage3",
        "symbol": "LAGE3",
        "hgnc": "HGNC:26058",
        "name": "L antigen family member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lage3"
      },
      {
        "slug": "mcm7",
        "symbol": "MCM7",
        "hgnc": "HGNC:6950",
        "name": "minichromosome maintenance complex component 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mcm7"
      },
      {
        "slug": "mcph1",
        "symbol": "MCPH1",
        "hgnc": "HGNC:6954",
        "name": "microcephalin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mcph1"
      },
      {
        "slug": "mettl5",
        "symbol": "METTL5",
        "hgnc": "HGNC:25006",
        "name": "methyltransferase 5, N6-adenosine",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mettl5"
      },
      {
        "slug": "mfsd2a",
        "symbol": "MFSD2A",
        "hgnc": "HGNC:25897",
        "name": "MFSD2 lysolipid transporter A, lysophospholipid",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfsd2a"
      },
      {
        "slug": "ncapd3",
        "symbol": "NCAPD3",
        "hgnc": "HGNC:28952",
        "name": "non-SMC condensin II complex subunit D3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncapd3"
      },
      {
        "slug": "nfix",
        "symbol": "NFIX",
        "hgnc": "HGNC:7788",
        "name": "nuclear factor I X",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfix"
      },
      {
        "slug": "nup107",
        "symbol": "NUP107",
        "hgnc": "HGNC:29914",
        "name": "nucleoporin 107",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup107"
      },
      {
        "slug": "nup133",
        "symbol": "NUP133",
        "hgnc": "HGNC:18016",
        "name": "nucleoporin 133",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup133"
      },
      {
        "slug": "nup37",
        "symbol": "NUP37",
        "hgnc": "HGNC:29929",
        "name": "nucleoporin 37",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup37"
      },
      {
        "slug": "osgep",
        "symbol": "OSGEP",
        "hgnc": "HGNC:18028",
        "name": "O-sialoglycoprotein endopeptidase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/osgep"
      },
      {
        "slug": "pafah1b1",
        "symbol": "PAFAH1B1",
        "hgnc": "HGNC:8574",
        "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pafah1b1"
      },
      {
        "slug": "pdcd6ip",
        "symbol": "PDCD6IP",
        "hgnc": "HGNC:8766",
        "name": "programmed cell death 6 interacting protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdcd6ip"
      },
      {
        "slug": "pex2",
        "symbol": "PEX2",
        "hgnc": "HGNC:9717",
        "name": "peroxisomal biogenesis factor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex2"
      },
      {
        "slug": "phc1",
        "symbol": "PHC1",
        "hgnc": "HGNC:3182",
        "name": "polyhomeotic homolog 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phc1"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "hgnc": "HGNC:9086",
        "name": "proteolipid protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plp1"
      },
      {
        "slug": "pycr2",
        "symbol": "PYCR2",
        "hgnc": "HGNC:30262",
        "name": "pyrroline-5-carboxylate reductase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pycr2"
      },
      {
        "slug": "rragc",
        "symbol": "RRAGC",
        "hgnc": "HGNC:19902",
        "name": "Ras related GTP binding C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rragc"
      },
      {
        "slug": "sars1",
        "symbol": "SARS1",
        "hgnc": "HGNC:10537",
        "name": "seryl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sars1"
      },
      {
        "slug": "sass6",
        "symbol": "SASS6",
        "hgnc": "HGNC:25403",
        "name": "SAS-6 centriolar assembly protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sass6"
      },
      {
        "slug": "stil",
        "symbol": "STIL",
        "hgnc": "HGNC:10879",
        "name": "STIL centriolar assembly protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stil"
      },
      {
        "slug": "taf13",
        "symbol": "TAF13",
        "hgnc": "HGNC:11546",
        "name": "TATA-box binding protein associated factor 13",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf13"
      },
      {
        "slug": "tp53rk",
        "symbol": "TP53RK",
        "hgnc": "HGNC:16197",
        "name": "TP53 regulating kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp53rk"
      },
      {
        "slug": "tprkb",
        "symbol": "TPRKB",
        "hgnc": "HGNC:24259",
        "name": "TP53RK binding protein",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tprkb"
      },
      {
        "slug": "trappc10",
        "symbol": "TRAPPC10",
        "hgnc": "HGNC:11868",
        "name": "trafficking protein particle complex subunit 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc10"
      },
      {
        "slug": "trappc14",
        "symbol": "TRAPPC14",
        "hgnc": "HGNC:25604",
        "name": "trafficking protein particle complex subunit 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc14"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "hgnc": "HGNC:20766",
        "name": "tubulin alpha 1a",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tuba1a"
      },
      {
        "slug": "tubb2b",
        "symbol": "TUBB2B",
        "hgnc": "HGNC:30829",
        "name": "tubulin beta 2B class IIb",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tubb2b"
      },
      {
        "slug": "tubb3",
        "symbol": "TUBB3",
        "hgnc": "HGNC:20772",
        "name": "tubulin beta 3 class III",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb3"
      },
      {
        "slug": "vac14",
        "symbol": "VAC14",
        "hgnc": "HGNC:25507",
        "name": "VAC14 component of PIKFYVE complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vac14"
      },
      {
        "slug": "wars1",
        "symbol": "WARS1",
        "hgnc": "HGNC:12729",
        "name": "tryptophanyl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wars1"
      },
      {
        "slug": "wdr4",
        "symbol": "WDR4",
        "hgnc": "HGNC:12756",
        "name": "WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr4"
      },
      {
        "slug": "wdr62",
        "symbol": "WDR62",
        "hgnc": "HGNC:24502",
        "name": "WD repeat domain 62",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/wdr62"
      },
      {
        "slug": "wdr73",
        "symbol": "WDR73",
        "hgnc": "HGNC:25928",
        "name": "WD repeat domain 73",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/wdr73"
      },
      {
        "slug": "yrdc",
        "symbol": "YRDC",
        "hgnc": "HGNC:28905",
        "name": "yrdC N6-threonylcarbamoyltransferase domain containing",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/yrdc"
      },
      {
        "slug": "adamts3",
        "symbol": "ADAMTS3",
        "hgnc": "HGNC:219",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamts3"
      },
      {
        "slug": "akt3",
        "symbol": "AKT3",
        "hgnc": "HGNC:393",
        "name": "AKT serine/threonine kinase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt3"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "hgnc": "HGNC:19358",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg12"
      },
      {
        "slug": "axin1",
        "symbol": "AXIN1",
        "hgnc": "HGNC:903",
        "name": "axin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/axin1"
      },
      {
        "slug": "cacna1e",
        "symbol": "CACNA1E",
        "hgnc": "HGNC:1392",
        "name": "calcium voltage-gated channel subunit alpha1 E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1e"
      },
      {
        "slug": "cask",
        "symbol": "CASK",
        "hgnc": "HGNC:1497",
        "name": "calcium/calmodulin dependent serine protein kinase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cask"
      },
      {
        "slug": "ccbe1",
        "symbol": "CCBE1",
        "hgnc": "HGNC:29426",
        "name": "collagen and calcium binding EGF domains 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ccbe1"
      },
      {
        "slug": "cdkl5",
        "symbol": "CDKL5",
        "hgnc": "HGNC:11411",
        "name": "cyclin dependent kinase like 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkl5"
      },
      {
        "slug": "cpt2",
        "symbol": "CPT2",
        "hgnc": "HGNC:2330",
        "name": "carnitine palmitoyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cpt2"
      },
      {
        "slug": "dhcr24",
        "symbol": "DHCR24",
        "hgnc": "HGNC:2859",
        "name": "24-dehydrocholesterol reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr24"
      },
      {
        "slug": "dmxl2",
        "symbol": "DMXL2",
        "hgnc": "HGNC:2938",
        "name": "Dmx like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmxl2"
      },
      {
        "slug": "fat4",
        "symbol": "FAT4",
        "hgnc": "HGNC:23109",
        "name": "FAT atypical cadherin 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fat4"
      },
      {
        "slug": "fbxo28",
        "symbol": "FBXO28",
        "hgnc": "HGNC:29046",
        "name": "F-box protein 28",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo28"
      },
      {
        "slug": "fli1",
        "symbol": "FLI1",
        "hgnc": "HGNC:3749",
        "name": "Fli-1 proto-oncogene, ETS transcription factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fli1"
      },
      {
        "slug": "foxg1",
        "symbol": "FOXG1",
        "hgnc": "HGNC:3811",
        "name": "forkhead box G1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxg1"
      },
      {
        "slug": "frmd5",
        "symbol": "FRMD5",
        "hgnc": "HGNC:28214",
        "name": "FERM domain containing 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/frmd5"
      },
      {
        "slug": "gnao1",
        "symbol": "GNAO1",
        "hgnc": "HGNC:4389",
        "name": "G protein subunit alpha o1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnao1"
      },
      {
        "slug": "gpx4",
        "symbol": "GPX4",
        "hgnc": "HGNC:4556",
        "name": "glutathione peroxidase 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpx4"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "hgnc": "HGNC:4584",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin1"
      },
      {
        "slug": "grm7",
        "symbol": "GRM7",
        "hgnc": "HGNC:4599",
        "name": "glutamate metabotropic receptor 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grm7"
      },
      {
        "slug": "kat6b",
        "symbol": "KAT6B",
        "hgnc": "HGNC:17582",
        "name": "lysine acetyltransferase 6B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6b"
      },
      {
        "slug": "kcna1",
        "symbol": "KCNA1",
        "hgnc": "HGNC:6218",
        "name": "potassium voltage-gated channel subfamily A member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcna1"
      },
      {
        "slug": "kifbp",
        "symbol": "KIFBP",
        "hgnc": "HGNC:23419",
        "name": "kinesin family binding protein",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kifbp"
      },
      {
        "slug": "lama2",
        "symbol": "LAMA2",
        "hgnc": "HGNC:6482",
        "name": "laminin subunit alpha 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lama2"
      },
      {
        "slug": "lgi1",
        "symbol": "LGI1",
        "hgnc": "HGNC:6572",
        "name": "leucine rich glioma inactivated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lgi1"
      },
      {
        "slug": "lmnb1",
        "symbol": "LMNB1",
        "hgnc": "HGNC:6637",
        "name": "lamin B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmnb1"
      },
      {
        "slug": "mlycd",
        "symbol": "MLYCD",
        "hgnc": "HGNC:7150",
        "name": "malonyl-CoA decarboxylase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mlycd"
      },
      {
        "slug": "mtor",
        "symbol": "MTOR",
        "hgnc": "HGNC:3942",
        "name": "mechanistic target of rapamycin kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtor"
      },
      {
        "slug": "nars1",
        "symbol": "NARS1",
        "hgnc": "HGNC:7643",
        "name": "asparaginyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nars1"
      },
      {
        "slug": "nek1",
        "symbol": "NEK1",
        "hgnc": "HGNC:7744",
        "name": "NIMA related kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek1"
      },
      {
        "slug": "neurod2",
        "symbol": "NEUROD2",
        "hgnc": "HGNC:7763",
        "name": "neuronal differentiation 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neurod2"
      },
      {
        "slug": "pdhb",
        "symbol": "PDHB",
        "hgnc": "HGNC:8808",
        "name": "pyruvate dehydrogenase E1 subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdhb"
      },
      {
        "slug": "pidd1",
        "symbol": "PIDD1",
        "hgnc": "HGNC:16491",
        "name": "p53-induced death domain protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pidd1"
      },
      {
        "slug": "pigp",
        "symbol": "PIGP",
        "hgnc": "HGNC:3046",
        "name": "phosphatidylinositol glycan anchor biosynthesis class P",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigp"
      },
      {
        "slug": "pigq",
        "symbol": "PIGQ",
        "hgnc": "HGNC:14135",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Q",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigq"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "pnkp",
        "symbol": "PNKP",
        "hgnc": "HGNC:9154",
        "name": "polynucleotide kinase 3'-phosphatase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkp"
      },
      {
        "slug": "ppfibp1",
        "symbol": "PPFIBP1",
        "hgnc": "HGNC:9249",
        "name": "PPFIB scaffold protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppfibp1"
      },
      {
        "slug": "prkdc",
        "symbol": "PRKDC",
        "hgnc": "HGNC:9413",
        "name": "protein kinase, DNA-activated, catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkdc"
      },
      {
        "slug": "rhobtb2",
        "symbol": "RHOBTB2",
        "hgnc": "HGNC:18756",
        "name": "Rho related BTB domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhobtb2"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "rttn",
        "symbol": "RTTN",
        "hgnc": "HGNC:18654",
        "name": "rotatin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rttn"
      },
      {
        "slug": "scn1b",
        "symbol": "SCN1B",
        "hgnc": "HGNC:10586",
        "name": "sodium voltage-gated channel beta subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn1b"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "sik1",
        "symbol": "SIK1",
        "hgnc": "HGNC:11142",
        "name": "salt inducible kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sik1"
      },
      {
        "slug": "slc25a22",
        "symbol": "SLC25A22",
        "hgnc": "HGNC:19954",
        "name": "solute carrier family 25 member 22",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a22"
      },
      {
        "slug": "slc32a1",
        "symbol": "SLC32A1",
        "hgnc": "HGNC:11018",
        "name": "solute carrier family 32 member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc32a1"
      },
      {
        "slug": "snf8",
        "symbol": "SNF8",
        "hgnc": "HGNC:17028",
        "name": "SNF8 subunit of ESCRT-II",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snf8"
      },
      {
        "slug": "tmx2",
        "symbol": "TMX2",
        "hgnc": "HGNC:30739",
        "name": "thioredoxin related transmembrane protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmx2"
      },
      {
        "slug": "trim8",
        "symbol": "TRIM8",
        "hgnc": "HGNC:15579",
        "name": "tripartite motif containing 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim8"
      },
      {
        "slug": "wdr26",
        "symbol": "WDR26",
        "hgnc": "HGNC:21208",
        "name": "WD repeat domain 26",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr26"
      },
      {
        "slug": "gfm2",
        "symbol": "GFM2",
        "hgnc": "HGNC:29682",
        "name": "GTP dependent ribosome recycling factor mitochondrial 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfm2"
      },
      {
        "slug": "tbr1",
        "symbol": "TBR1",
        "hgnc": "HGNC:11590",
        "name": "T-box brain transcription factor 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbr1"
      },
      {
        "slug": "arhgap31",
        "symbol": "ARHGAP31",
        "hgnc": "HGNC:29216",
        "name": "Rho GTPase activating protein 31",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgap31"
      },
      {
        "slug": "atr",
        "symbol": "ATR",
        "hgnc": "HGNC:882",
        "name": "ATR checkpoint kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atr"
      },
      {
        "slug": "cradd",
        "symbol": "CRADD",
        "hgnc": "HGNC:2340",
        "name": "CARD and death domain containing adaptor protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cradd"
      },
      {
        "slug": "dchs1",
        "symbol": "DCHS1",
        "hgnc": "HGNC:13681",
        "name": "dachsous cadherin-related 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dchs1"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "hgnc": "HGNC:3481",
        "name": "electron transfer flavoprotein subunit alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "hgnc": "HGNC:3482",
        "name": "electron transfer flavoprotein subunit beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "hgnc": "HGNC:3483",
        "name": "electron transfer flavoprotein dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfdh"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "ocln",
        "symbol": "OCLN",
        "hgnc": "HGNC:8104",
        "name": "occludin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ocln"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "hgnc": "HGNC:8851",
        "name": "peroxisomal biogenesis factor 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex10"
      },
      {
        "slug": "pik3r2",
        "symbol": "PIK3R2",
        "hgnc": "HGNC:8980",
        "name": "phosphoinositide-3-kinase regulatory subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r2"
      },
      {
        "slug": "rmnd1",
        "symbol": "RMND1",
        "hgnc": "HGNC:21176",
        "name": "required for meiotic nuclear division 1 homolog",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmnd1"
      },
      {
        "slug": "tctn1",
        "symbol": "TCTN1",
        "hgnc": "HGNC:26113",
        "name": "tectonic family member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn1"
      },
      {
        "slug": "tubgcp6",
        "symbol": "TUBGCP6",
        "hgnc": "HGNC:18127",
        "name": "tubulin gamma complex component 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubgcp6"
      },
      {
        "slug": "vldlr",
        "symbol": "VLDLR",
        "hgnc": "HGNC:12698",
        "name": "very low density lipoprotein receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vldlr"
      },
      {
        "slug": "znhit3",
        "symbol": "ZNHIT3",
        "hgnc": "HGNC:12309",
        "name": "zinc finger HIT-type containing 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znhit3"
      }
    ]
  }
}