{
  "url": "https://dantelabs.com/hu/genes/pmp2",
  "gene": {
    "slug": "pmp2",
    "symbol": "PMP2",
    "name": "peripheral myelin protein 2",
    "hgnc": "HGNC:9117",
    "summary": null,
    "location": "8q21.13",
    "locusType": "gene with protein product",
    "aliases": [
      "MP2",
      "FABP8",
      "M-FABP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000147588",
    "entrezId": 5375,
    "omim": [
      "170715"
    ],
    "uniprot": [
      "P02689"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 81440326,
      "end": 81447439,
      "strand": "-",
      "ensemblTranscript": "ENST00000256103.3",
      "refseqTranscript": "NM_002677.5",
      "ensemblProtein": "ENSP00000256103.2",
      "refseqProtein": "NP_002668.1",
      "exons": [
        {
          "start": 81440326,
          "end": 81443448
        },
        {
          "start": 81444500,
          "end": 81444601
        },
        {
          "start": 81444817,
          "end": 81444989
        },
        {
          "start": 81447314,
          "end": 81447439
        }
      ],
      "cds": {
        "start": 81443398,
        "end": 81447386
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 82352561,
      "end": 82359758,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 80943883,
      "end": 81943882,
      "genes": [
        {
          "symbol": "PAG1",
          "ensemblId": "ENSG00000076641",
          "biotype": "protein_coding",
          "start": 80967810,
          "end": 81112121,
          "strand": "-",
          "slug": "pag1"
        },
        {
          "symbol": "FABP5",
          "ensemblId": "ENSG00000164687",
          "biotype": "protein_coding",
          "start": 81280267,
          "end": 81285731,
          "strand": "+",
          "slug": "fabp5"
        },
        {
          "symbol": "FABP9",
          "ensemblId": "ENSG00000205186",
          "biotype": "protein_coding",
          "start": 81458253,
          "end": 81461579,
          "strand": "-",
          "slug": "fabp9"
        },
        {
          "symbol": "FABP4",
          "ensemblId": "ENSG00000170323",
          "biotype": "protein_coding",
          "start": 81474792,
          "end": 81483243,
          "strand": "-",
          "slug": "fabp4"
        },
        {
          "symbol": "FABP12",
          "ensemblId": "ENSG00000197416",
          "biotype": "protein_coding",
          "start": 81524974,
          "end": 81590139,
          "strand": "-",
          "slug": "fabp12"
        },
        {
          "symbol": "IMPA1",
          "ensemblId": "ENSG00000133731",
          "biotype": "protein_coding",
          "start": 81656687,
          "end": 81686848,
          "strand": "-",
          "slug": "impa1"
        },
        {
          "symbol": "SLC10A5",
          "ensemblId": "ENSG00000253598",
          "biotype": "protein_coding",
          "start": 81693631,
          "end": 81695058,
          "strand": "-",
          "slug": "slc10a5"
        },
        {
          "symbol": "ZFAND1",
          "ensemblId": "ENSG00000104231",
          "biotype": "protein_coding",
          "start": 81701180,
          "end": 81732903,
          "strand": "-",
          "slug": "zfand1"
        },
        {
          "symbol": "CHMP4C",
          "ensemblId": "ENSG00000164695",
          "biotype": "protein_coding",
          "start": 81732448,
          "end": 81759515,
          "strand": "+",
          "slug": "chmp4c"
        },
        {
          "symbol": "SNX16",
          "ensemblId": "ENSG00000104497",
          "biotype": "protein_coding",
          "start": 81799581,
          "end": 81842866,
          "strand": "-",
          "slug": "snx16"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Charcot-Marie-Tooth Disease",
            "genes": 62,
            "inheritance": null,
            "description": "A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.",
            "management": "Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/charcot-marie-tooth-disease-type-1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "absent-patellar-reflexes",
        "name": "Absent knee jerk reflex",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-patellar-reflexes"
      },
      {
        "slug": "decreased-compound-muscle-action-potential-amplitude",
        "name": "Decreased compound muscle action potential amplitude",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-compound-muscle-action-potential-amplitude"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "hand-tremor",
        "name": "Hand tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hand-tremor"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "impaired-pain-sensation",
        "name": "Impaired pain sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-pain-sensation"
      },
      {
        "slug": "onion-bulb-formation",
        "name": "Onion bulb formation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/onion-bulb-formation"
      },
      {
        "slug": "peripheral-demyelination",
        "name": "Peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-demyelination"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aifm1"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp1a1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cadm3"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dync1h1"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "name": "early growth response 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/egr2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "name": "fibulin 5",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fbln5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}