{
  "url": "https://dantelabs.com/traits/abnormal-myelination",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "abnormal-myelination",
    "id": "HP:0012447",
    "name": "Abnormal myelination",
    "definition": "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.",
    "synonyms": [],
    "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-nervous-system-morphology",
        "name": "Abnormal shape of nervous system",
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "delayed-myelination",
        "name": "Delayed myelination",
        "genes": 119,
        "url": "https://dantelabs.com/traits/delayed-myelination"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "genes": 58,
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "mixed-demyelinating-and-axonal-polyneuropathy",
        "name": "Mixed demyelinating and axonal polyneuropathy",
        "genes": 19,
        "url": "https://dantelabs.com/traits/mixed-demyelinating-and-axonal-polyneuropathy"
      },
      {
        "slug": "abnormal-cns-myelination",
        "name": "Abnormal CNS myelination",
        "genes": 17,
        "url": "https://dantelabs.com/traits/abnormal-cns-myelination"
      },
      {
        "slug": "abnormal-peripheral-myelination",
        "name": "Abnormal peripheral myelination",
        "genes": 4,
        "url": "https://dantelabs.com/traits/abnormal-peripheral-myelination"
      },
      {
        "slug": "hypermyelinated-retinal-nerve-fibers",
        "name": "Hypermyelinated retinal nerve fibers",
        "genes": 3,
        "url": "https://dantelabs.com/traits/hypermyelinated-retinal-nerve-fibers"
      }
    ],
    "genes": [
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "ercc8",
        "symbol": "ERCC8",
        "hgnc": "HGNC:3439",
        "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc8"
      },
      {
        "slug": "plp1",
        "symbol": "PLP1",
        "hgnc": "HGNC:9086",
        "name": "proteolipid protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plp1"
      },
      {
        "slug": "tfg",
        "symbol": "TFG",
        "hgnc": "HGNC:11758",
        "name": "trafficking from ER to golgi regulator",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tfg"
      },
      {
        "slug": "borcs5",
        "symbol": "BORCS5",
        "hgnc": "HGNC:17950",
        "name": "BLOC-1 related complex subunit 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/borcs5"
      },
      {
        "slug": "c2cd3",
        "symbol": "C2CD3",
        "hgnc": "HGNC:24564",
        "name": "C2 domain containing 3 centriole elongation regulator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c2cd3"
      },
      {
        "slug": "lamb1",
        "symbol": "LAMB1",
        "hgnc": "HGNC:6486",
        "name": "laminin subunit beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamb1"
      },
      {
        "slug": "mars1",
        "symbol": "MARS1",
        "hgnc": "HGNC:6898",
        "name": "methionyl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mars1"
      },
      {
        "slug": "ngly1",
        "symbol": "NGLY1",
        "hgnc": "HGNC:17646",
        "name": "N-glycanase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ngly1"
      },
      {
        "slug": "pgap1",
        "symbol": "PGAP1",
        "hgnc": "HGNC:25712",
        "name": "post-GPI attachment to proteins inositol deacylase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgap1"
      },
      {
        "slug": "rab3gap2",
        "symbol": "RAB3GAP2",
        "hgnc": "HGNC:17168",
        "name": "RAB3 GTPase activating non-catalytic protein subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab3gap2"
      },
      {
        "slug": "slc30a10",
        "symbol": "SLC30A10",
        "hgnc": "HGNC:25355",
        "name": "solute carrier family 30 member 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc30a10"
      },
      {
        "slug": "tmtc3",
        "symbol": "TMTC3",
        "hgnc": "HGNC:26899",
        "name": "transmembrane O-mannosyltransferase targeting cadherins 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmtc3"
      },
      {
        "slug": "zfr",
        "symbol": "ZFR",
        "hgnc": "HGNC:17277",
        "name": "zinc finger RNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zfr"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "hgnc": "HGNC:20",
        "name": "alanyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aars1"
      },
      {
        "slug": "actl6b",
        "symbol": "ACTL6B",
        "hgnc": "HGNC:160",
        "name": "actin like 6B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actl6b"
      },
      {
        "slug": "ap3b2",
        "symbol": "AP3B2",
        "hgnc": "HGNC:567",
        "name": "adaptor related protein complex 3 subunit beta 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap3b2"
      },
      {
        "slug": "atp1a2",
        "symbol": "ATP1A2",
        "hgnc": "HGNC:800",
        "name": "ATPase Na+/K+ transporting subunit alpha 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp1a2"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "hgnc": "HGNC:801",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp1a3"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "hgnc": "HGNC:851",
        "name": "ATPase H+ transporting V1 subunit A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1a"
      },
      {
        "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": "cacna1b",
        "symbol": "CACNA1B",
        "hgnc": "HGNC:1389",
        "name": "calcium voltage-gated channel subunit alpha1 B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna1b"
      },
      {
        "slug": "cacna2d1",
        "symbol": "CACNA2D1",
        "hgnc": "HGNC:1399",
        "name": "calcium voltage-gated channel auxiliary subunit alpha2delta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cacna2d1"
      },
      {
        "slug": "cdk19",
        "symbol": "CDK19",
        "hgnc": "HGNC:19338",
        "name": "cyclin dependent kinase 19",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk19"
      },
      {
        "slug": "celf2",
        "symbol": "CELF2",
        "hgnc": "HGNC:2550",
        "name": "CUGBP Elav-like family member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/celf2"
      },
      {
        "slug": "cltc",
        "symbol": "CLTC",
        "hgnc": "HGNC:2092",
        "name": "clathrin heavy chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cltc"
      },
      {
        "slug": "cnksr2",
        "symbol": "CNKSR2",
        "hgnc": "HGNC:19701",
        "name": "connector enhancer of kinase suppressor of Ras 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnksr2"
      },
      {
        "slug": "cyfip2",
        "symbol": "CYFIP2",
        "hgnc": "HGNC:13760",
        "name": "cytoplasmic FMR1 interacting protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyfip2"
      },
      {
        "slug": "dalrd3",
        "symbol": "DALRD3",
        "hgnc": "HGNC:25536",
        "name": "DALR anticodon binding domain containing 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dalrd3"
      },
      {
        "slug": "depdc5",
        "symbol": "DEPDC5",
        "hgnc": "HGNC:18423",
        "name": "DEP domain containing 5, GATOR1 subcomplex subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/depdc5"
      },
      {
        "slug": "dhdds",
        "symbol": "DHDDS",
        "hgnc": "HGNC:20603",
        "name": "dehydrodolichyl diphosphate synthase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhdds"
      },
      {
        "slug": "dnm1",
        "symbol": "DNM1",
        "hgnc": "HGNC:2972",
        "name": "dynamin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnm1"
      },
      {
        "slug": "eef1a2",
        "symbol": "EEF1A2",
        "hgnc": "HGNC:3192",
        "name": "eukaryotic translation elongation factor 1 alpha 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eef1a2"
      },
      {
        "slug": "fbxo28",
        "symbol": "FBXO28",
        "hgnc": "HGNC:29046",
        "name": "F-box protein 28",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo28"
      },
      {
        "slug": "fgf12",
        "symbol": "FGF12",
        "hgnc": "HGNC:3668",
        "name": "fibroblast growth factor 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf12"
      },
      {
        "slug": "foxg1",
        "symbol": "FOXG1",
        "hgnc": "HGNC:3811",
        "name": "forkhead box G1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxg1"
      },
      {
        "slug": "fzr1",
        "symbol": "FZR1",
        "hgnc": "HGNC:24824",
        "name": "fizzy and cell division cycle 20 related 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzr1"
      },
      {
        "slug": "gabbr2",
        "symbol": "GABBR2",
        "hgnc": "HGNC:4507",
        "name": "gamma-aminobutyric acid type B receptor subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabbr2"
      },
      {
        "slug": "gabra2",
        "symbol": "GABRA2",
        "hgnc": "HGNC:4076",
        "name": "gamma-aminobutyric acid type A receptor subunit alpha2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabra2"
      },
      {
        "slug": "gabra5",
        "symbol": "GABRA5",
        "hgnc": "HGNC:4079",
        "name": "gamma-aminobutyric acid type A receptor subunit alpha5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabra5"
      },
      {
        "slug": "gabrb2",
        "symbol": "GABRB2",
        "hgnc": "HGNC:4082",
        "name": "gamma-aminobutyric acid type A receptor subunit beta2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gabrb2"
      },
      {
        "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": "grin2a",
        "symbol": "GRIN2A",
        "hgnc": "HGNC:4585",
        "name": "glutamate ionotropic receptor NMDA type subunit 2A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2a"
      },
      {
        "slug": "grin2d",
        "symbol": "GRIN2D",
        "hgnc": "HGNC:4588",
        "name": "glutamate ionotropic receptor NMDA type subunit 2D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin2d"
      },
      {
        "slug": "hcn1",
        "symbol": "HCN1",
        "hgnc": "HGNC:4845",
        "name": "hyperpolarization activated cyclic nucleotide gated potassium channel 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hcn1"
      },
      {
        "slug": "kcna2",
        "symbol": "KCNA2",
        "hgnc": "HGNC:6220",
        "name": "potassium voltage-gated channel subfamily A member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcna2"
      },
      {
        "slug": "kcnb1",
        "symbol": "KCNB1",
        "hgnc": "HGNC:6231",
        "name": "potassium voltage-gated channel subfamily B member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnb1"
      },
      {
        "slug": "kcnc2",
        "symbol": "KCNC2",
        "hgnc": "HGNC:6234",
        "name": "potassium voltage-gated channel subfamily C member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnc2"
      },
      {
        "slug": "kcnh5",
        "symbol": "KCNH5",
        "hgnc": "HGNC:6254",
        "name": "potassium voltage-gated channel subfamily H member 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnh5"
      },
      {
        "slug": "mdga2",
        "symbol": "MDGA2",
        "hgnc": "HGNC:19835",
        "name": "MAM domain containing glycosylphosphatidylinositol anchor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mdga2"
      },
      {
        "slug": "morc2",
        "symbol": "MORC2",
        "hgnc": "HGNC:23573",
        "name": "MORC family CW-type zinc finger 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/morc2"
      },
      {
        "slug": "necap1",
        "symbol": "NECAP1",
        "hgnc": "HGNC:24539",
        "name": "NECAP endocytosis associated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/necap1"
      },
      {
        "slug": "ntrk2",
        "symbol": "NTRK2",
        "hgnc": "HGNC:8032",
        "name": "neurotrophic receptor tyrosine kinase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ntrk2"
      },
      {
        "slug": "nus1",
        "symbol": "NUS1",
        "hgnc": "HGNC:21042",
        "name": "NUS1 dehydrodolichyl diphosphate synthase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nus1"
      },
      {
        "slug": "pacs2",
        "symbol": "PACS2",
        "hgnc": "HGNC:23794",
        "name": "phosphofurin acidic cluster sorting protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pacs2"
      },
      {
        "slug": "pars2",
        "symbol": "PARS2",
        "hgnc": "HGNC:30563",
        "name": "prolyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pars2"
      },
      {
        "slug": "ppp3ca",
        "symbol": "PPP3CA",
        "hgnc": "HGNC:9314",
        "name": "protein phosphatase 3 catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp3ca"
      },
      {
        "slug": "scn1a",
        "symbol": "SCN1A",
        "hgnc": "HGNC:10585",
        "name": "sodium voltage-gated channel alpha subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn1a"
      },
      {
        "slug": "scn3a",
        "symbol": "SCN3A",
        "hgnc": "HGNC:10590",
        "name": "sodium voltage-gated channel alpha subunit 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn3a"
      },
      {
        "slug": "scn8a",
        "symbol": "SCN8A",
        "hgnc": "HGNC:10596",
        "name": "sodium voltage-gated channel alpha subunit 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn8a"
      },
      {
        "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": "slc1a2",
        "symbol": "SLC1A2",
        "hgnc": "HGNC:10940",
        "name": "solute carrier family 1 member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a2"
      },
      {
        "slug": "slc38a3",
        "symbol": "SLC38A3",
        "hgnc": "HGNC:18044",
        "name": "solute carrier family 38 member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc38a3"
      },
      {
        "slug": "sox3",
        "symbol": "SOX3",
        "hgnc": "HGNC:11199",
        "name": "SRY-box transcription factor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox3"
      },
      {
        "slug": "syngap1",
        "symbol": "SYNGAP1",
        "hgnc": "HGNC:11497",
        "name": "synaptic Ras GTPase activating protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syngap1"
      },
      {
        "slug": "synj1",
        "symbol": "SYNJ1",
        "hgnc": "HGNC:11503",
        "name": "synaptojanin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/synj1"
      },
      {
        "slug": "szt2",
        "symbol": "SZT2",
        "hgnc": "HGNC:29040",
        "name": "SZT2 subunit of KICSTOR complex",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/szt2"
      },
      {
        "slug": "trak1",
        "symbol": "TRAK1",
        "hgnc": "HGNC:29947",
        "name": "trafficking kinesin protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trak1"
      },
      {
        "slug": "uba5",
        "symbol": "UBA5",
        "hgnc": "HGNC:23230",
        "name": "ubiquitin like modifier activating enzyme 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uba5"
      },
      {
        "slug": "ufsp2",
        "symbol": "UFSP2",
        "hgnc": "HGNC:25640",
        "name": "UFM1 specific peptidase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufsp2"
      },
      {
        "slug": "ywhag",
        "symbol": "YWHAG",
        "hgnc": "HGNC:12852",
        "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ywhag"
      },
      {
        "slug": "znf699",
        "symbol": "ZNF699",
        "hgnc": "HGNC:24750",
        "name": "zinc finger protein 699",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf699"
      }
    ]
  }
}