{
  "url": "https://dantelabs.com/traits/leukodystrophy",
  "trait": {
    "bundleId": "2026.10.18-e609d43e",
    "release": "2026-09-01",
    "slug": "leukodystrophy",
    "id": "HP:0002415",
    "name": "Leukodystrophy",
    "definition": "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.",
    "synonyms": [
      "Degeneration of white matter of brain"
    ],
    "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": "abnormal-cns-myelination",
        "name": "Abnormal CNS myelination",
        "url": "https://dantelabs.com/traits/abnormal-cns-myelination"
      }
    ],
    "narrower": [
      {
        "slug": "dysmyelinating-leukodystrophy",
        "name": "Dysmyelinating leukodystrophy",
        "genes": 3,
        "url": "https://dantelabs.com/traits/dysmyelinating-leukodystrophy"
      },
      {
        "slug": "sudanophilic-leukodystrophy",
        "name": "Sudanophilic leukodystrophy",
        "genes": 3,
        "url": "https://dantelabs.com/traits/sudanophilic-leukodystrophy"
      },
      {
        "slug": "cavitating-leukodystrophy",
        "name": "Cavitating leukodystrophy",
        "genes": 2,
        "url": "https://dantelabs.com/traits/cavitating-leukodystrophy"
      }
    ],
    "genes": [
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "hgnc": "HGNC:16066",
        "name": "alkaline ceramidase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acer3"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "hgnc": "HGNC:13552",
        "name": "ATPase phospholipid transporting 11A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp11a"
      },
      {
        "slug": "cox6b1",
        "symbol": "COX6B1",
        "hgnc": "HGNC:2280",
        "name": "cytochrome c oxidase subunit 6B1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox6b1"
      },
      {
        "slug": "eprs1",
        "symbol": "EPRS1",
        "hgnc": "HGNC:3418",
        "name": "glutamyl-prolyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eprs1"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "exosc5",
        "symbol": "EXOSC5",
        "hgnc": "HGNC:24662",
        "name": "exosome component 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exosc5"
      },
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "hgnc": "HGNC:13601",
        "name": "F-box and leucine rich repeat protein 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxl4"
      },
      {
        "slug": "hikeshi",
        "symbol": "HIKESHI",
        "hgnc": "HGNC:26938",
        "name": "heat shock protein nuclear import factor hikeshi",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hikeshi"
      },
      {
        "slug": "hspd1",
        "symbol": "HSPD1",
        "hgnc": "HGNC:5261",
        "name": "heat shock protein family D (Hsp60) member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspd1"
      },
      {
        "slug": "isca1",
        "symbol": "ISCA1",
        "hgnc": "HGNC:28660",
        "name": "iron-sulfur cluster assembly 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/isca1"
      },
      {
        "slug": "kars1",
        "symbol": "KARS1",
        "hgnc": "HGNC:6215",
        "name": "lysyl-tRNA synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kars1"
      },
      {
        "slug": "lsm7",
        "symbol": "LSM7",
        "hgnc": "HGNC:20470",
        "name": "LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lsm7"
      },
      {
        "slug": "nadk2",
        "symbol": "NADK2",
        "hgnc": "HGNC:26404",
        "name": "NAD kinase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nadk2"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "nubpl",
        "symbol": "NUBPL",
        "hgnc": "HGNC:20278",
        "name": "NUBP iron-sulfur cluster assembly factor, mitochondrial",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nubpl"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "hgnc": "HGNC:8851",
        "name": "peroxisomal biogenesis factor 10",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex10"
      },
      {
        "slug": "polr1a",
        "symbol": "POLR1A",
        "hgnc": "HGNC:17264",
        "name": "RNA polymerase I subunit A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1a"
      },
      {
        "slug": "polr3b",
        "symbol": "POLR3B",
        "hgnc": "HGNC:30348",
        "name": "RNA polymerase III subunit B",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/polr3b"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "hgnc": "HGNC:10681",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhb"
      },
      {
        "slug": "tubb4a",
        "symbol": "TUBB4A",
        "hgnc": "HGNC:20774",
        "name": "tubulin beta 4A class IVa",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb4a"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "hgnc": "HGNC:26927",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxred1"
      },
      {
        "slug": "mt-nd1",
        "symbol": "MT-ND1",
        "hgnc": "HGNC:7455",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd1"
      },
      {
        "slug": "mt-nd2",
        "symbol": "MT-ND2",
        "hgnc": "HGNC:7456",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd2"
      },
      {
        "slug": "mt-nd3",
        "symbol": "MT-ND3",
        "hgnc": "HGNC:7458",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd3"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "hgnc": "HGNC:7683",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa1"
      },
      {
        "slug": "ndufa11",
        "symbol": "NDUFA11",
        "hgnc": "HGNC:20371",
        "name": "NADH:ubiquinone oxidoreductase subunit A11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa11"
      },
      {
        "slug": "ndufa6",
        "symbol": "NDUFA6",
        "hgnc": "HGNC:7690",
        "name": "NADH:ubiquinone oxidoreductase subunit A6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa6"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "hgnc": "HGNC:7693",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa9"
      },
      {
        "slug": "ndufaf1",
        "symbol": "NDUFAF1",
        "hgnc": "HGNC:18828",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf1"
      },
      {
        "slug": "ndufaf2",
        "symbol": "NDUFAF2",
        "hgnc": "HGNC:28086",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf2"
      },
      {
        "slug": "ndufaf3",
        "symbol": "NDUFAF3",
        "hgnc": "HGNC:29918",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf3"
      },
      {
        "slug": "ndufaf4",
        "symbol": "NDUFAF4",
        "hgnc": "HGNC:21034",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf4"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "hgnc": "HGNC:15899",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf5"
      },
      {
        "slug": "ndufaf8",
        "symbol": "NDUFAF8",
        "hgnc": "HGNC:33551",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf8"
      },
      {
        "slug": "ndufb10",
        "symbol": "NDUFB10",
        "hgnc": "HGNC:7696",
        "name": "NADH:ubiquinone oxidoreductase subunit B10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb10"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "hgnc": "HGNC:20372",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb11"
      },
      {
        "slug": "ndufb3",
        "symbol": "NDUFB3",
        "hgnc": "HGNC:7698",
        "name": "NADH:ubiquinone oxidoreductase subunit B3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb3"
      },
      {
        "slug": "ndufb9",
        "symbol": "NDUFB9",
        "hgnc": "HGNC:7704",
        "name": "NADH:ubiquinone oxidoreductase subunit B9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb9"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "hgnc": "HGNC:7707",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ndufs1"
      },
      {
        "slug": "ndufs2",
        "symbol": "NDUFS2",
        "hgnc": "HGNC:7708",
        "name": "NADH:ubiquinone oxidoreductase core subunit S2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs2"
      },
      {
        "slug": "ndufs3",
        "symbol": "NDUFS3",
        "hgnc": "HGNC:7710",
        "name": "NADH:ubiquinone oxidoreductase core subunit S3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs3"
      },
      {
        "slug": "ndufs4",
        "symbol": "NDUFS4",
        "hgnc": "HGNC:7711",
        "name": "NADH:ubiquinone oxidoreductase subunit S4",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ndufs4"
      },
      {
        "slug": "ndufs6",
        "symbol": "NDUFS6",
        "hgnc": "HGNC:7713",
        "name": "NADH:ubiquinone oxidoreductase subunit S6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs6"
      },
      {
        "slug": "ndufs7",
        "symbol": "NDUFS7",
        "hgnc": "HGNC:7714",
        "name": "NADH:ubiquinone oxidoreductase core subunit S7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs7"
      },
      {
        "slug": "ndufs8",
        "symbol": "NDUFS8",
        "hgnc": "HGNC:7715",
        "name": "NADH:ubiquinone oxidoreductase core subunit S8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs8"
      },
      {
        "slug": "ndufv1",
        "symbol": "NDUFV1",
        "hgnc": "HGNC:7716",
        "name": "NADH:ubiquinone oxidoreductase core subunit V1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ndufv1"
      },
      {
        "slug": "ndufv2",
        "symbol": "NDUFV2",
        "hgnc": "HGNC:7717",
        "name": "NADH:ubiquinone oxidoreductase core subunit V2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufv2"
      },
      {
        "slug": "samhd1",
        "symbol": "SAMHD1",
        "hgnc": "HGNC:15925",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/samhd1"
      },
      {
        "slug": "timmdc1",
        "symbol": "TIMMDC1",
        "hgnc": "HGNC:1321",
        "name": "translocase of inner mitochondrial membrane domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/timmdc1"
      },
      {
        "slug": "tmem126b",
        "symbol": "TMEM126B",
        "hgnc": "HGNC:30883",
        "name": "transmembrane protein 126B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem126b"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "hgnc": "HGNC:23",
        "name": "4-aminobutyrate aminotransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abat"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "hgnc": "HGNC:713",
        "name": "arylsulfatase A",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/arsa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "fbp2",
        "symbol": "FBP2",
        "hgnc": "HGNC:3607",
        "name": "fructose-bisphosphatase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbp2"
      },
      {
        "slug": "glrx5",
        "symbol": "GLRX5",
        "hgnc": "HGNC:20134",
        "name": "glutaredoxin 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/glrx5"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "iba57",
        "symbol": "IBA57",
        "hgnc": "HGNC:27302",
        "name": "iron-sulfur cluster assembly factor IBA57",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/iba57"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "isca2",
        "symbol": "ISCA2",
        "hgnc": "HGNC:19857",
        "name": "iron-sulfur cluster assembly 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/isca2"
      },
      {
        "slug": "lsm11",
        "symbol": "LSM11",
        "hgnc": "HGNC:30860",
        "name": "LSM11, U7 small nuclear RNA associated",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lsm11"
      },
      {
        "slug": "nkx6-2",
        "symbol": "NKX6-2",
        "hgnc": "HGNC:19321",
        "name": "NK6 homeobox 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nkx6-2"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/polr3a"
      },
      {
        "slug": "psap",
        "symbol": "PSAP",
        "hgnc": "HGNC:9498",
        "name": "prosaposin",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/psap"
      },
      {
        "slug": "reps1",
        "symbol": "REPS1",
        "hgnc": "HGNC:15578",
        "name": "RALBP1 associated Eps domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/reps1"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "hgnc": "HGNC:18518",
        "name": "ribonuclease H2 subunit A",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "hgnc": "HGNC:25671",
        "name": "ribonuclease H2 subunit B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2b"
      },
      {
        "slug": "rnaseh2c",
        "symbol": "RNASEH2C",
        "hgnc": "HGNC:24116",
        "name": "ribonuclease H2 subunit C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2c"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "slc35b2",
        "symbol": "SLC35B2",
        "hgnc": "HGNC:16872",
        "name": "solute carrier family 35 member B2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35b2"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "hgnc": "HGNC:23161",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg8"
      },
      {
        "slug": "c1r",
        "symbol": "C1R",
        "hgnc": "HGNC:1246",
        "name": "complement C1r",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1r"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "hgnc": "HGNC:1247",
        "name": "complement C1s",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1s"
      },
      {
        "slug": "gtpbp3",
        "symbol": "GTPBP3",
        "hgnc": "HGNC:14880",
        "name": "GTP binding protein 3, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp3"
      },
      {
        "slug": "lias",
        "symbol": "LIAS",
        "hgnc": "HGNC:16429",
        "name": "lipoic acid synthetase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lias"
      },
      {
        "slug": "sp110",
        "symbol": "SP110",
        "hgnc": "HGNC:5401",
        "name": "SP110 nuclear body protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sp110"
      },
      {
        "slug": "taok1",
        "symbol": "TAOK1",
        "hgnc": "HGNC:29259",
        "name": "TAO kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taok1"
      },
      {
        "slug": "sptbn1",
        "symbol": "SPTBN1",
        "hgnc": "HGNC:11275",
        "name": "spectrin beta, non-erythrocytic 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn1"
      },
      {
        "slug": "acox1",
        "symbol": "ACOX1",
        "hgnc": "HGNC:119",
        "name": "acyl-CoA oxidase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acox1"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "hgnc": "HGNC:10648",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "hgnc": "HGNC:20609",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aimp2"
      },
      {
        "slug": "bola3",
        "symbol": "BOLA3",
        "hgnc": "HGNC:24415",
        "name": "bolA family member 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bola3"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "hgnc": "HGNC:26169",
        "name": "CST telomere replication complex component 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctc1"
      },
      {
        "slug": "ednrb",
        "symbol": "EDNRB",
        "hgnc": "HGNC:3180",
        "name": "endothelin receptor type B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ednrb"
      },
      {
        "slug": "gjc2",
        "symbol": "GJC2",
        "hgnc": "HGNC:17494",
        "name": "gap junction protein gamma 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjc2"
      },
      {
        "slug": "hycc1",
        "symbol": "HYCC1",
        "hgnc": "HGNC:24587",
        "name": "hyccin PI4KA lipid kinase complex subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hycc1"
      },
      {
        "slug": "pc",
        "symbol": "PC",
        "hgnc": "HGNC:8636",
        "name": "pyruvate carboxylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pc"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "hgnc": "HGNC:8850",
        "name": "peroxisomal biogenesis factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex1"
      },
      {
        "slug": "pex16",
        "symbol": "PEX16",
        "hgnc": "HGNC:8857",
        "name": "peroxisomal biogenesis factor 16",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex16"
      },
      {
        "slug": "pi4ka",
        "symbol": "PI4KA",
        "hgnc": "HGNC:8983",
        "name": "phosphatidylinositol 4-kinase alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pi4ka"
      },
      {
        "slug": "plekhg2",
        "symbol": "PLEKHG2",
        "hgnc": "HGNC:29515",
        "name": "pleckstrin homology and RhoGEF domain containing G2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plekhg2"
      },
      {
        "slug": "pnpt1",
        "symbol": "PNPT1",
        "hgnc": "HGNC:23166",
        "name": "polyribonucleotide nucleotidyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnpt1"
      },
      {
        "slug": "polr1c",
        "symbol": "POLR1C",
        "hgnc": "HGNC:20194",
        "name": "RNA polymerase I and III subunit C",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1c"
      },
      {
        "slug": "pycr2",
        "symbol": "PYCR2",
        "hgnc": "HGNC:30262",
        "name": "pyrroline-5-carboxylate reductase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pycr2"
      },
      {
        "slug": "rars1",
        "symbol": "RARS1",
        "hgnc": "HGNC:9870",
        "name": "arginyl-tRNA synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rars1"
      },
      {
        "slug": "slc16a2",
        "symbol": "SLC16A2",
        "hgnc": "HGNC:10923",
        "name": "solute carrier family 16 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc16a2"
      },
      {
        "slug": "snord118",
        "symbol": "SNORD118",
        "hgnc": "HGNC:32952",
        "name": "small nucleolar RNA, C/D box 118",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snord118"
      },
      {
        "slug": "tmem106b",
        "symbol": "TMEM106B",
        "hgnc": "HGNC:22407",
        "name": "transmembrane protein 106B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem106b"
      },
      {
        "slug": "tmem63a",
        "symbol": "TMEM63A",
        "hgnc": "HGNC:29118",
        "name": "transmembrane protein 63A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem63a"
      },
      {
        "slug": "tufm",
        "symbol": "TUFM",
        "hgnc": "HGNC:12420",
        "name": "Tu translation elongation factor, mitochondrial",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tufm"
      }
    ]
  }
}