{
  "url": "https://dantelabs.com/traits/choreoathetosis",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "choreoathetosis",
    "id": "HP:0001266",
    "name": "Choreoathetosis",
    "definition": "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).",
    "synonyms": [
      "Choreoathetoid movements"
    ],
    "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": "chorea",
        "name": "Chorea",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "url": "https://dantelabs.com/traits/athetosis"
      }
    ],
    "narrower": [
      {
        "slug": "paroxysmal-choreoathetosis",
        "name": "Paroxysmal choreoathetosis",
        "genes": 2,
        "url": "https://dantelabs.com/traits/paroxysmal-choreoathetosis"
      },
      {
        "slug": "progressive-choreoathetosis",
        "name": "Progressive choreoathetosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/progressive-choreoathetosis"
      }
    ],
    "genes": [
      {
        "slug": "cers1",
        "symbol": "CERS1",
        "hgnc": "HGNC:14253",
        "name": "ceramide synthase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cers1"
      },
      {
        "slug": "elp2",
        "symbol": "ELP2",
        "hgnc": "HGNC:18248",
        "name": "elongator acetyltransferase complex subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elp2"
      },
      {
        "slug": "frrs1l",
        "symbol": "FRRS1L",
        "hgnc": "HGNC:1362",
        "name": "ferric chelate reductase 1 like",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/frrs1l"
      },
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "hgnc": "HGNC:4193",
        "name": "GTP cyclohydrolase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gch1"
      },
      {
        "slug": "gjc2",
        "symbol": "GJC2",
        "hgnc": "HGNC:17494",
        "name": "gap junction protein gamma 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjc2"
      },
      {
        "slug": "grik2",
        "symbol": "GRIK2",
        "hgnc": "HGNC:4580",
        "name": "glutamate ionotropic receptor kainate type subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grik2"
      },
      {
        "slug": "gtf3c3",
        "symbol": "GTF3C3",
        "hgnc": "HGNC:4666",
        "name": "general transcription factor IIIC subunit 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf3c3"
      },
      {
        "slug": "ireb2",
        "symbol": "IREB2",
        "hgnc": "HGNC:6115",
        "name": "iron responsive element binding protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ireb2"
      },
      {
        "slug": "lonp1",
        "symbol": "LONP1",
        "hgnc": "HGNC:9479",
        "name": "lon peptidase 1, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lonp1"
      },
      {
        "slug": "nadk2",
        "symbol": "NADK2",
        "hgnc": "HGNC:26404",
        "name": "NAD kinase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nadk2"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "hgnc": "HGNC:7693",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa9"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "hgnc": "HGNC:15899",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf5"
      },
      {
        "slug": "nkx2-1",
        "symbol": "NKX2-1",
        "hgnc": "HGNC:11825",
        "name": "NK2 homeobox 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nkx2-1"
      },
      {
        "slug": "pnpt1",
        "symbol": "PNPT1",
        "hgnc": "HGNC:23166",
        "name": "polyribonucleotide nucleotidyltransferase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pnpt1"
      },
      {
        "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": "timm50",
        "symbol": "TIMM50",
        "hgnc": "HGNC:23656",
        "name": "translocase of inner mitochondrial membrane 50",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/timm50"
      },
      {
        "slug": "tnr",
        "symbol": "TNR",
        "hgnc": "HGNC:11953",
        "name": "tenascin R",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnr"
      },
      {
        "slug": "ubr5",
        "symbol": "UBR5",
        "hgnc": "HGNC:16806",
        "name": "ubiquitin protein ligase E3 component n-recognin 5",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubr5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "hgnc": "HGNC:795",
        "name": "ATM serine/threonine kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atm"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "hgnc": "HGNC:25784",
        "name": "DDB1 and CUL4 associated factor 17",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dcaf17"
      },
      {
        "slug": "micos13",
        "symbol": "MICOS13",
        "hgnc": "HGNC:33702",
        "name": "mitochondrial contact site and cristae organizing system subunit 13",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/micos13"
      },
      {
        "slug": "opa3",
        "symbol": "OPA3",
        "hgnc": "HGNC:8142",
        "name": "outer mitochondrial membrane lipid metabolism regulator OPA3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa3"
      },
      {
        "slug": "pank2",
        "symbol": "PANK2",
        "hgnc": "HGNC:15894",
        "name": "pantothenate kinase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pank2"
      },
      {
        "slug": "prrt2",
        "symbol": "PRRT2",
        "hgnc": "HGNC:30500",
        "name": "proline rich transmembrane protein 2",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/prrt2"
      },
      {
        "slug": "sepsecs",
        "symbol": "SEPSECS",
        "hgnc": "HGNC:30605",
        "name": "Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sepsecs"
      },
      {
        "slug": "slc2a1",
        "symbol": "SLC2A1",
        "hgnc": "HGNC:11005",
        "name": "solute carrier family 2 member 1",
        "frequency": "very-frequent",
        "diseases": 7,
        "url": "https://dantelabs.com/genes/slc2a1"
      },
      {
        "slug": "tsen15",
        "symbol": "TSEN15",
        "hgnc": "HGNC:16791",
        "name": "tRNA splicing endonuclease subunit 15",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen15"
      },
      {
        "slug": "tsen2",
        "symbol": "TSEN2",
        "hgnc": "HGNC:28422",
        "name": "tRNA splicing endonuclease subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen2"
      },
      {
        "slug": "tsen34",
        "symbol": "TSEN34",
        "hgnc": "HGNC:15506",
        "name": "tRNA splicing endonuclease subunit 34",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen34"
      },
      {
        "slug": "tsen54",
        "symbol": "TSEN54",
        "hgnc": "HGNC:27561",
        "name": "tRNA splicing endonuclease subunit 54",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsen54"
      },
      {
        "slug": "abat",
        "symbol": "ABAT",
        "hgnc": "HGNC:23",
        "name": "4-aminobutyrate aminotransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abat"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "hgnc": "HGNC:13921",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abhd16a"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "adcy5",
        "symbol": "ADCY5",
        "hgnc": "HGNC:236",
        "name": "adenylate cyclase 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adcy5"
      },
      {
        "slug": "atn1",
        "symbol": "ATN1",
        "hgnc": "HGNC:3033",
        "name": "atrophin 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atn1"
      },
      {
        "slug": "cacna1b",
        "symbol": "CACNA1B",
        "hgnc": "HGNC:1389",
        "name": "calcium voltage-gated channel subunit alpha1 B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1b"
      },
      {
        "slug": "clpb",
        "symbol": "CLPB",
        "hgnc": "HGNC:30664",
        "name": "ClpB family mitochondrial disaggregase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/clpb"
      },
      {
        "slug": "cmpk2",
        "symbol": "CMPK2",
        "hgnc": "HGNC:27015",
        "name": "cytidine/uridine monophosphate kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cmpk2"
      },
      {
        "slug": "cox20",
        "symbol": "COX20",
        "hgnc": "HGNC:26970",
        "name": "cytochrome c oxidase assembly factor COX20",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox20"
      },
      {
        "slug": "dlat",
        "symbol": "DLAT",
        "hgnc": "HGNC:2896",
        "name": "dihydrolipoamide S-acetyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlat"
      },
      {
        "slug": "gtpbp2",
        "symbol": "GTPBP2",
        "hgnc": "HGNC:4670",
        "name": "GTP binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp2"
      },
      {
        "slug": "guf1",
        "symbol": "GUF1",
        "hgnc": "HGNC:25799",
        "name": "GTP binding elongation factor GUF1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/guf1"
      },
      {
        "slug": "jam2",
        "symbol": "JAM2",
        "hgnc": "HGNC:14686",
        "name": "junctional adhesion molecule 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jam2"
      },
      {
        "slug": "kcnq2",
        "symbol": "KCNQ2",
        "hgnc": "HGNC:6296",
        "name": "potassium voltage-gated channel subfamily Q member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq2"
      },
      {
        "slug": "kcnq3",
        "symbol": "KCNQ3",
        "hgnc": "HGNC:6297",
        "name": "potassium voltage-gated channel subfamily Q member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq3"
      },
      {
        "slug": "mecp2",
        "symbol": "MECP2",
        "hgnc": "HGNC:6990",
        "name": "methyl-CpG binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mecp2"
      },
      {
        "slug": "med23",
        "symbol": "MED23",
        "hgnc": "HGNC:2372",
        "name": "mediator complex subunit 23",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med23"
      },
      {
        "slug": "mre11",
        "symbol": "MRE11",
        "hgnc": "HGNC:7230",
        "name": "MRE11 double strand break repair nuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mre11"
      },
      {
        "slug": "mrps34",
        "symbol": "MRPS34",
        "hgnc": "HGNC:16618",
        "name": "mitochondrial ribosomal protein S34",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mrps34"
      },
      {
        "slug": "mt-atp6",
        "symbol": "MT-ATP6",
        "hgnc": "HGNC:7414",
        "name": "mitochondrially encoded ATP synthase membrane subunit 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-atp6"
      },
      {
        "slug": "myorg",
        "symbol": "MYORG",
        "hgnc": "HGNC:19918",
        "name": "myogenesis regulating glycosidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myorg"
      },
      {
        "slug": "naa60",
        "symbol": "NAA60",
        "hgnc": "HGNC:25875",
        "name": "N-alpha-acetyltransferase 60, NatF catalytic subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naa60"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "hgnc": "HGNC:7683",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa1"
      },
      {
        "slug": "ndufa13",
        "symbol": "NDUFA13",
        "hgnc": "HGNC:17194",
        "name": "NADH:ubiquinone oxidoreductase subunit A13",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa13"
      },
      {
        "slug": "ngly1",
        "symbol": "NGLY1",
        "hgnc": "HGNC:17646",
        "name": "N-glycanase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ngly1"
      },
      {
        "slug": "nup54",
        "symbol": "NUP54",
        "hgnc": "HGNC:17359",
        "name": "nucleoporin 54",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nup54"
      },
      {
        "slug": "nup62",
        "symbol": "NUP62",
        "hgnc": "HGNC:8066",
        "name": "nucleoporin 62",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nup62"
      },
      {
        "slug": "pdgfb",
        "symbol": "PDGFB",
        "hgnc": "HGNC:8800",
        "name": "platelet derived growth factor subunit B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfb"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "hgnc": "HGNC:8967",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pign"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "hgnc": "HGNC:9086",
        "name": "proteolipid protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plp1"
      },
      {
        "slug": "pnkd",
        "symbol": "PNKD",
        "hgnc": "HGNC:9153",
        "name": "PNKD metallo-beta-lactamase domain containing",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkd"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "hgnc": "HGNC:9179",
        "name": "DNA polymerase gamma, catalytic subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polg"
      },
      {
        "slug": "rrp12",
        "symbol": "RRP12",
        "hgnc": "HGNC:29100",
        "name": "ribosomal RNA processing 12 homolog",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rrp12"
      },
      {
        "slug": "scn1a",
        "symbol": "SCN1A",
        "hgnc": "HGNC:10585",
        "name": "sodium voltage-gated channel alpha subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn1a"
      },
      {
        "slug": "scn2a",
        "symbol": "SCN2A",
        "hgnc": "HGNC:10588",
        "name": "sodium voltage-gated channel alpha subunit 2",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/scn2a"
      },
      {
        "slug": "scn8a",
        "symbol": "SCN8A",
        "hgnc": "HGNC:10596",
        "name": "sodium voltage-gated channel alpha subunit 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn8a"
      },
      {
        "slug": "slc16a2",
        "symbol": "SLC16A2",
        "hgnc": "HGNC:10923",
        "name": "solute carrier family 16 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc16a2"
      },
      {
        "slug": "slc20a2",
        "symbol": "SLC20A2",
        "hgnc": "HGNC:10947",
        "name": "solute carrier family 20 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc20a2"
      },
      {
        "slug": "toe1",
        "symbol": "TOE1",
        "hgnc": "HGNC:15954",
        "name": "target of EGR1, exonuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/toe1"
      },
      {
        "slug": "tubb4a",
        "symbol": "TUBB4A",
        "hgnc": "HGNC:20774",
        "name": "tubulin beta 4A class IVa",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tubb4a"
      },
      {
        "slug": "xpr1",
        "symbol": "XPR1",
        "hgnc": "HGNC:12827",
        "name": "xenotropic and polytropic retrovirus receptor 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xpr1"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "hgnc": "HGNC:16935",
        "name": "autophagy related 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atg7"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "hgnc": "HGNC:800",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "hgnc": "HGNC:801",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp1a3"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "hgnc": "HGNC:1388",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1a"
      },
      {
        "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": 1,
        "url": "https://dantelabs.com/genes/cask"
      },
      {
        "slug": "cdkl5",
        "symbol": "CDKL5",
        "hgnc": "HGNC:11411",
        "name": "cyclin dependent kinase like 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkl5"
      },
      {
        "slug": "chka",
        "symbol": "CHKA",
        "hgnc": "HGNC:1937",
        "name": "choline kinase alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chka"
      },
      {
        "slug": "dmxl2",
        "symbol": "DMXL2",
        "hgnc": "HGNC:2938",
        "name": "Dmx like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmxl2"
      },
      {
        "slug": "eif2ak2",
        "symbol": "EIF2AK2",
        "hgnc": "HGNC:9437",
        "name": "eukaryotic translation initiation factor 2 alpha kinase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif2ak2"
      },
      {
        "slug": "fbxl4",
        "symbol": "FBXL4",
        "hgnc": "HGNC:13601",
        "name": "F-box and leucine rich repeat protein 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxl4"
      },
      {
        "slug": "fbxo28",
        "symbol": "FBXO28",
        "hgnc": "HGNC:29046",
        "name": "F-box protein 28",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo28"
      },
      {
        "slug": "gabrg2",
        "symbol": "GABRG2",
        "hgnc": "HGNC:4087",
        "name": "gamma-aminobutyric acid type A receptor subunit gamma2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrg2"
      },
      {
        "slug": "gnao1",
        "symbol": "GNAO1",
        "hgnc": "HGNC:4389",
        "name": "G protein subunit alpha o1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnao1"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "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": "hcfc1",
        "symbol": "HCFC1",
        "hgnc": "HGNC:4839",
        "name": "host cell factor C1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hcfc1"
      },
      {
        "slug": "hsd17b10",
        "symbol": "HSD17B10",
        "hgnc": "HGNC:4800",
        "name": "hydroxysteroid 17-beta dehydrogenase 10",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hsd17b10"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "inpp4a",
        "symbol": "INPP4A",
        "hgnc": "HGNC:6074",
        "name": "inositol polyphosphate-4-phosphatase type I A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inpp4a"
      },
      {
        "slug": "irf2bpl",
        "symbol": "IRF2BPL",
        "hgnc": "HGNC:14282",
        "name": "interferon regulatory factor 2 binding protein like",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/irf2bpl"
      },
      {
        "slug": "kcna1",
        "symbol": "KCNA1",
        "hgnc": "HGNC:6218",
        "name": "potassium voltage-gated channel subfamily A member 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kcna1"
      },
      {
        "slug": "lgi1",
        "symbol": "LGI1",
        "hgnc": "HGNC:6572",
        "name": "leucine rich glioma inactivated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lgi1"
      },
      {
        "slug": "micu1",
        "symbol": "MICU1",
        "hgnc": "HGNC:1530",
        "name": "mitochondrial calcium uptake 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/micu1"
      },
      {
        "slug": "mmut",
        "symbol": "MMUT",
        "hgnc": "HGNC:7526",
        "name": "methylmalonyl-CoA mutase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mmut"
      },
      {
        "slug": "mt-tl2",
        "symbol": "MT-TL2",
        "hgnc": "HGNC:7491",
        "name": "mitochondrially encoded tRNA-Leu (CUN) 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tl2"
      },
      {
        "slug": "neurod2",
        "symbol": "NEUROD2",
        "hgnc": "HGNC:7763",
        "name": "neuronal differentiation 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/neurod2"
      },
      {
        "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": "pik3r5",
        "symbol": "PIK3R5",
        "hgnc": "HGNC:30035",
        "name": "phosphoinositide-3-kinase regulatory subunit 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r5"
      },
      {
        "slug": "pnkp",
        "symbol": "PNKP",
        "hgnc": "HGNC:9154",
        "name": "polynucleotide kinase 3'-phosphatase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkp"
      },
      {
        "slug": "pou3f3",
        "symbol": "POU3F3",
        "hgnc": "HGNC:9216",
        "name": "POU class 3 homeobox 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pou3f3"
      },
      {
        "slug": "pts",
        "symbol": "PTS",
        "hgnc": "HGNC:9689",
        "name": "6-pyruvoyltetrahydropterin synthase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pts"
      },
      {
        "slug": "rhobtb2",
        "symbol": "RHOBTB2",
        "hgnc": "HGNC:18756",
        "name": "Rho related BTB domain containing 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rhobtb2"
      },
      {
        "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": "setx",
        "symbol": "SETX",
        "hgnc": "HGNC:445",
        "name": "senataxin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setx"
      },
      {
        "slug": "sh2b1",
        "symbol": "SH2B1",
        "hgnc": "HGNC:30417",
        "name": "SH2B adaptor protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh2b1"
      },
      {
        "slug": "sik1",
        "symbol": "SIK1",
        "hgnc": "HGNC:11142",
        "name": "salt inducible kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sik1"
      },
      {
        "slug": "slc13a5",
        "symbol": "SLC13A5",
        "hgnc": "HGNC:23089",
        "name": "solute carrier family 13 member 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc13a5"
      },
      {
        "slug": "slc1a3",
        "symbol": "SLC1A3",
        "hgnc": "HGNC:10941",
        "name": "solute carrier family 1 member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a3"
      },
      {
        "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": "sptbn4",
        "symbol": "SPTBN4",
        "hgnc": "HGNC:14896",
        "name": "spectrin beta, non-erythrocytic 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn4"
      },
      {
        "slug": "stxbp1",
        "symbol": "STXBP1",
        "hgnc": "HGNC:11444",
        "name": "syntaxin binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stxbp1"
      },
      {
        "slug": "suclg1",
        "symbol": "SUCLG1",
        "hgnc": "HGNC:11449",
        "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/suclg1"
      },
      {
        "slug": "syt1",
        "symbol": "SYT1",
        "hgnc": "HGNC:11509",
        "name": "synaptotagmin 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/syt1"
      },
      {
        "slug": "tmem106b",
        "symbol": "TMEM106B",
        "hgnc": "HGNC:22407",
        "name": "transmembrane protein 106B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem106b"
      },
      {
        "slug": "tmem151a",
        "symbol": "TMEM151A",
        "hgnc": "HGNC:28497",
        "name": "transmembrane protein 151A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem151a"
      },
      {
        "slug": "trim8",
        "symbol": "TRIM8",
        "hgnc": "HGNC:15579",
        "name": "tripartite motif containing 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim8"
      },
      {
        "slug": "trpm3",
        "symbol": "TRPM3",
        "hgnc": "HGNC:17992",
        "name": "transient receptor potential cation channel subfamily M member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpm3"
      },
      {
        "slug": "rnu4-2",
        "symbol": "RNU4-2",
        "hgnc": "HGNC:10193",
        "name": "RNA, U4 small nuclear 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4-2"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "hgnc": "HGNC:560",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap1s2"
      },
      {
        "slug": "ddc",
        "symbol": "DDC",
        "hgnc": "HGNC:2719",
        "name": "dopa decarboxylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddc"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "ftl",
        "symbol": "FTL",
        "hgnc": "HGNC:3999",
        "name": "ferritin light chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ftl"
      },
      {
        "slug": "gcdh",
        "symbol": "GCDH",
        "hgnc": "HGNC:4189",
        "name": "glutaryl-CoA dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gcdh"
      },
      {
        "slug": "hprt1",
        "symbol": "HPRT1",
        "hgnc": "HGNC:5157",
        "name": "hypoxanthine phosphoribosyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hprt1"
      },
      {
        "slug": "hspd1",
        "symbol": "HSPD1",
        "hgnc": "HGNC:5261",
        "name": "heat shock protein family D (Hsp60) member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspd1"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "hgnc": "HGNC:8806",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdha1"
      },
      {
        "slug": "qdpr",
        "symbol": "QDPR",
        "hgnc": "HGNC:9752",
        "name": "quinoid dihydropteridine reductase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/qdpr"
      },
      {
        "slug": "slc25a42",
        "symbol": "SLC25A42",
        "hgnc": "HGNC:28380",
        "name": "solute carrier family 25 member 42",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a42"
      },
      {
        "slug": "spr",
        "symbol": "SPR",
        "hgnc": "HGNC:11257",
        "name": "sepiapterin reductase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spr"
      },
      {
        "slug": "st3gal5",
        "symbol": "ST3GAL5",
        "hgnc": "HGNC:10872",
        "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/st3gal5"
      },
      {
        "slug": "suox",
        "symbol": "SUOX",
        "hgnc": "HGNC:11460",
        "name": "sulfite oxidase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/suox"
      },
      {
        "slug": "xpa",
        "symbol": "XPA",
        "hgnc": "HGNC:12814",
        "name": "XPA, DNA damage recognition and repair factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpa"
      }
    ]
  }
}