{ "url": "https://dantelabs.com/sv/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-sjukdom", "diseases": [ { "mondoId": "MONDO:0015626", "name": "Charcot-Marie-Tooth-sjukdom", "genes": 62, "inheritance": null, "description": "En grupp ärftliga perifera neuropatier som orsakar progressiv svaghet och muskelnedbrytning i de distala musklerna samt känselbortfall, främst i fötter och händer.", "management": "Genetisk rådgivning, undertypsspecifik uppföljning, sjukgymnastik, ortoser, undvikande av neurotoxiska läkemedel, genspecifika kliniska prövningar, bevakning av associerade kännetecken", "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/sv/conditions/charcot-marie-tooth-disease-type-1" }, { "slug": "rare-hereditary-peripheral-neuropathies", "name": "Sällsynta ärftliga perifera neuropatier", "diseases": [ { "mondoId": "MONDO:0020127", "name": "Ärftlig perifer neuropati", "genes": 233, "inheritance": null, "description": "Orsakas av förändringar i någon av de många gener som behövs för att hålla de långa nervfibrerna friska. I denna rapport ingår bland annat IGHMBP2 och PLEKHG5, som är recessiva.", "management": "Sjukgymnastik, ortoser och arbetsterapi hjälper till att bibehålla rörligheten, och kirurgi vid fotdeformiteter görs vid behov. Vissa former kräver uppföljning av andningen. Genetisk rådgivning vägleder släktingstestning utifrån gens ärftlighetsmönster.", "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/sv/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/sv/genes/aars1" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/aifm1" }, { "slug": "atp1a1", "symbol": "ATP1A1", "name": "ATPase Na+/K+ transporting subunit alpha 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/atp1a1" }, { "slug": "cadm3", "symbol": "CADM3", "name": "cell adhesion molecule 3", "shared": 2, "url": "https://dantelabs.com/sv/genes/cadm3" }, { "slug": "cox6a1", "symbol": "COX6A1", "name": "cytochrome c oxidase subunit 6A1", "shared": 2, "url": "https://dantelabs.com/sv/genes/cox6a1" }, { "slug": "dhtkd1", "symbol": "DHTKD1", "name": "dehydrogenase E1 and transketolase domain containing 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/dhtkd1" }, { "slug": "dhx9", "symbol": "DHX9", "name": "DExH-box helicase 9", "shared": 2, "url": "https://dantelabs.com/sv/genes/dhx9" }, { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/dnm2" }, { "slug": "drp2", "symbol": "DRP2", "name": "dystrophin related protein 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/drp2" }, { "slug": "dync1h1", "symbol": "DYNC1H1", "name": "dynein cytoplasmic 1 heavy chain 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/dync1h1" }, { "slug": "egr2", "symbol": "EGR2", "name": "early growth response 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/egr2" }, { "slug": "fbln5", "symbol": "FBLN5", "name": "fibulin 5", "shared": 2, "url": "https://dantelabs.com/sv/genes/fbln5" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }