{
  "url": "https://dantelabs.com/hu/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": "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": [
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Rare Hereditary Peripheral Neuropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Hereditary Peripheral Neuropathy",
            "genes": 233,
            "inheritance": null,
            "description": "Caused by changes in one of many genes needed to keep long nerve fibres healthy. In this report these include IGHMBP2 and PLEKHG5, which are recessive.",
            "management": "Physiotherapy, orthoses and occupational therapy help maintain mobility, with surgery for foot deformities when needed. Some forms need breathing monitoring. Genetic counselling guides family testing according to the inheritance pattern of the gene involved.",
            "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/hu/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/hu/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/aifm1"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atp1a1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cadm3"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/dync1h1"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "name": "early growth response 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/egr2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "name": "fibulin 5",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/fbln5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}