{
  "url": "https://dantelabs.com/fr/genes/hspb1",
  "gene": {
    "slug": "hspb1",
    "symbol": "HSPB1",
    "name": "heat shock protein family B (small) member 1",
    "hgnc": "HGNC:5246",
    "summary": null,
    "location": "7q11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "HSP27",
      "HSP28",
      "Hs.76067",
      "Hsp25",
      "CMT2F"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000106211",
    "entrezId": 3315,
    "omim": [
      "602195"
    ],
    "uniprot": [
      "P04792"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 76302673,
      "end": 76304292,
      "strand": "+",
      "ensemblTranscript": "ENST00000248553.7",
      "refseqTranscript": "NM_001540.5",
      "ensemblProtein": "ENSP00000248553.6",
      "refseqProtein": "NP_001531.1",
      "exons": [
        {
          "start": 76302673,
          "end": 76303076
        },
        {
          "start": 76303802,
          "end": 76303865
        },
        {
          "start": 76303984,
          "end": 76304292
        }
      ],
      "cds": {
        "start": 76302713,
        "end": 76304173
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 75931861,
      "end": 75933612,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 75803483,
      "end": 76803482,
      "genes": [
        {
          "symbol": "CCL24",
          "ensemblId": "ENSG00000106178",
          "biotype": "protein_coding",
          "start": 75810825,
          "end": 75823943,
          "strand": "-",
          "slug": "ccl24"
        },
        {
          "symbol": "RHBDD2",
          "ensemblId": "ENSG00000005486",
          "biotype": "protein_coding",
          "start": 75842602,
          "end": 75890056,
          "strand": "+",
          "slug": "rhbdd2"
        },
        {
          "symbol": "POR",
          "ensemblId": "ENSG00000127948",
          "biotype": "protein_coding",
          "start": 75899200,
          "end": 75986855,
          "strand": "+",
          "slug": "por"
        },
        {
          "symbol": "TMEM120A",
          "ensemblId": "ENSG00000189077",
          "biotype": "protein_coding",
          "start": 75973304,
          "end": 75994669,
          "strand": "-",
          "slug": "tmem120a"
        },
        {
          "symbol": "STYXL1",
          "ensemblId": "ENSG00000127952",
          "biotype": "protein_coding",
          "start": 75996315,
          "end": 76048809,
          "strand": "-",
          "slug": "styxl1"
        },
        {
          "symbol": "MDH2",
          "ensemblId": "ENSG00000146701",
          "biotype": "protein_coding",
          "start": 76048037,
          "end": 76067508,
          "strand": "+",
          "slug": "mdh2"
        },
        {
          "symbol": "SRRM3",
          "ensemblId": "ENSG00000177679",
          "biotype": "protein_coding",
          "start": 76201864,
          "end": 76287288,
          "strand": "+",
          "slug": "srrm3"
        },
        {
          "symbol": "YWHAG",
          "ensemblId": "ENSG00000170027",
          "biotype": "protein_coding",
          "start": 76326799,
          "end": 76359022,
          "strand": "-",
          "slug": "ywhag"
        },
        {
          "symbol": "SSC4D",
          "ensemblId": "ENSG00000146700",
          "biotype": "protein_coding",
          "start": 76389017,
          "end": 76409744,
          "strand": "-",
          "slug": "ssc4d"
        },
        {
          "symbol": "ZP3",
          "ensemblId": "ENSG00000188372",
          "biotype": "protein_coding",
          "start": 76397497,
          "end": 76442071,
          "strand": "+",
          "slug": "zp3"
        },
        {
          "symbol": "DTX2",
          "ensemblId": "ENSG00000091073",
          "biotype": "protein_coding",
          "start": 76461656,
          "end": 76507223,
          "strand": "+",
          "slug": "dtx2"
        },
        {
          "symbol": "UPK3B",
          "ensemblId": "ENSG00000243566",
          "biotype": "protein_coding",
          "start": 76510353,
          "end": 76532774,
          "strand": "+",
          "slug": "upk3b"
        },
        {
          "symbol": "SPDYE16",
          "ensemblId": "ENSG00000185040",
          "biotype": "protein_coding",
          "start": 76531313,
          "end": 76543297,
          "strand": "-",
          "slug": "spdye16"
        },
        {
          "symbol": "POMZP3",
          "ensemblId": "ENSG00000146707",
          "biotype": "protein_coding",
          "start": 76601809,
          "end": 76627288,
          "strand": "-",
          "slug": "pomzp3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Maladie de Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Maladie de Charcot-Marie-Tooth",
            "genes": 62,
            "inheritance": null,
            "description": "Un groupe de neuropathies périphériques héréditaires provoquant une faiblesse et une fonte progressives des muscles distaux ainsi qu'une perte de sensibilité, touchant principalement les pieds et les mains.",
            "management": "Conseil génétique, suivi spécifique au sous-type, kinésithérapie, orthèses, éviction des médicaments neurotoxiques, essais cliniques ciblant des gènes spécifiques, surveillance des manifestations associées",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Neuropathies périphériques héréditaires rares",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Neuropathie périphérique héréditaire",
            "genes": 233,
            "inheritance": null,
            "description": "Causée par des modifications dans l'un des nombreux gènes nécessaires au maintien en bon état des longues fibres nerveuses. Dans ce rapport, ces gènes comprennent IGHMBP2 et PLEKHG5, dont la transmission est récessive.",
            "management": "La kinésithérapie, les orthèses et l'ergothérapie aident à préserver la mobilité, avec une chirurgie des déformations du pied si nécessaire. Certaines formes nécessitent une surveillance respiratoire. Le conseil génétique oriente le dépistage familial selon le mode de transmission du gène concerné.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "areflexia-of-lower-limbs",
        "name": "Areflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs"
      },
      {
        "slug": "chronic-axonal-neuropathy",
        "name": "Chronic axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/chronic-axonal-neuropathy"
      },
      {
        "slug": "claw-hand-deformity",
        "name": "Claw hand deformity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/claw-hand-deformity"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "emg-chronic-denervation-signs",
        "name": "EMG: chronic denervation signs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-chronic-denervation-signs"
      },
      {
        "slug": "emg-neuropathic-changes",
        "name": "EMG: neuropathic changes",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-neuropathic-changes"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hyporeflexia-of-lower-limbs",
        "name": "Hyporeflexia of lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia-of-lower-limbs"
      },
      {
        "slug": "hyporeflexia-of-upper-limbs",
        "name": "Hyporeflexia of upper limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia-of-upper-limbs"
      },
      {
        "slug": "impaired-pain-sensation",
        "name": "Impaired pain sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-pain-sensation"
      },
      {
        "slug": "impaired-temperature-sensation",
        "name": "Impaired temperature sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-temperature-sensation"
      },
      {
        "slug": "limb-fasciculations",
        "name": "Limb fasciculations",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limb-fasciculations"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "paralysis",
        "name": "Paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paralysis"
      },
      {
        "slug": "paresis-of-extensor-muscles-of-the-big-toe",
        "name": "Paresis of extensor muscles of the big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/paresis-of-extensor-muscles-of-the-big-toe"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "ulnar-claw",
        "name": "Ulnar claw",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/ulnar-claw"
      },
      {
        "slug": "upper-limb-amyotrophy",
        "name": "Upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upper-limb-amyotrophy"
      },
      {
        "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": 2,
        "url": "https://dantelabs.com/fr/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/aifm1"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/atp1a1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/cadm3"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/dync1h1"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "name": "early growth response 2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/egr2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "name": "fibulin 5",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fbln5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}