{ "url": "https://dantelabs.com/sv/genes/hspd1", "gene": { "slug": "hspd1", "symbol": "HSPD1", "name": "heat shock protein family D (Hsp60) member 1", "hgnc": "HGNC:5261", "summary": null, "location": "2q33.1", "locusType": "gene with protein product", "aliases": [ "GroEL", "HSP60" ], "previousSymbols": [ "SPG13" ], "ensemblId": "ENSG00000144381", "entrezId": 3329, "omim": [ "118190" ], "uniprot": [ "P10809" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 197486584, "end": 197499840, "strand": "-", "ensemblTranscript": "ENST00000388968.8", "refseqTranscript": "NM_002156.5", "ensemblProtein": "ENSP00000373620.3", "refseqProtein": "NP_002147.2", "exons": [ { "start": 197486584, "end": 197487198 }, { "start": 197487858, "end": 197488036 }, { "start": 197488317, "end": 197488491 }, { "start": 197489002, "end": 197489247 }, { "start": 197490197, "end": 197490296 }, { "start": 197493324, "end": 197493492 }, { "start": 197494157, "end": 197494250 }, { "start": 197494657, "end": 197494752 }, { "start": 197495294, "end": 197495376 }, { "start": 197497140, "end": 197497392 }, { "start": 197498675, "end": 197498850 }, { "start": 197499782, "end": 197499840 } ], "cds": { "start": 197487046, "end": 197498848 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 198351305, "end": 198381461, "strand": "-" }, "neighbourhood": { "release": "116", "start": 196993212, "end": 197993211, "genes": [ { "symbol": "ANKRD44", "ensemblId": "ENSG00000065413", "biotype": "protein_coding", "start": 196967017, "end": 197311173, "strand": "-", "slug": "ankrd44" }, { "symbol": "SF3B1", "ensemblId": "ENSG00000115524", "biotype": "protein_coding", "start": 197388515, "end": 197435079, "strand": "-", "slug": "sf3b1" }, { "symbol": "COQ10B", "ensemblId": "ENSG00000115520", "biotype": "protein_coding", "start": 197453438, "end": 197475488, "strand": "+", "slug": "coq10b" }, { "symbol": "HSPE1", "ensemblId": "ENSG00000115541", "biotype": "protein_coding", "start": 197500110, "end": 197513408, "strand": "+", "slug": "hspe1" }, { "symbol": "HSPE1-MOB4", "ensemblId": "ENSG00000270757", "biotype": "protein_coding", "start": 197500413, "end": 197550726, "strand": "+", "slug": "hspe1-mob4" }, { "symbol": "MOB4", "ensemblId": "ENSG00000115540", "biotype": "protein_coding", "start": 197515571, "end": 197553699, "strand": "+", "slug": "mob4" }, { "symbol": "RFTN2", "ensemblId": "ENSG00000162944", "biotype": "protein_coding", "start": 197568224, "end": 197676168, "strand": "-", "slug": "rftn2" }, { "symbol": "MARS2", "ensemblId": "ENSG00000247626", "biotype": "protein_coding", "start": 197705369, "end": 197708395, "strand": "+", "slug": "mars2" }, { "symbol": "BOLL", "ensemblId": "ENSG00000152430", "biotype": "protein_coding", "start": 197726879, "end": 197786762, "strand": "-", "slug": "boll" }, { "symbol": "PLCL1", "ensemblId": "ENSG00000115896", "biotype": "protein_coding", "start": 197804541, "end": 198572581, "strand": "+", "slug": "plcl1" } ], "truncated": false }, "reports": [ { "slug": "hereditary-spastic-paraplegia", "name": "Hereditär spastisk paraplegi", "diseases": [ { "mondoId": "MONDO:0011532", "name": "Hereditär spastisk paraplegi 13", "genes": 1, "inheritance": "autosomal-dominant", "description": "Varje hereditär spastisk paraplegi där sjukdomen orsakas av en mutation i genen HSPD1.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019064", "name": "Hereditär spastisk paraplegi (alla typer)", "genes": 66, "inheritance": null, "description": "Samlingsbegrepp för alla hereditära spastiska paraplegier, inklusive SPG4 (SPAST), den vanligaste dominanta formen, samt SPG5A, SPG6, SPG10, SPG18, SPG30 och SPG31.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/hereditary-spastic-paraplegia" }, { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Pelizaeus-Merzbacher-sjukdom och hypomyeliniserande leukodystrofier", "diseases": [ { "mondoId": "MONDO:0017226", "name": "Pelizaeus-Merzbacher-liknande sjukdom (GJC2 och andra)", "genes": 3, "inheritance": "autosomal-recessive", "description": "Ett tillstånd som till stor del liknar Pelizaeus-Merzbacher-sjukdom, oftast orsakat av förändringar i GJC2, med tidigt nystagmus, försenad utveckling och senare spasticitet.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Andra ärftliga leukodystrofier", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrofi (andra och ej specificerade typer)", "genes": 80, "inheritance": null, "description": "Ärftliga tillstånd som skadar eller förhindrar den normala bildningen av myelin, den vita substansen i hjärnan och ryggmärgen. Olika typer följer autosomalt recessiv, autosomalt dominant eller X-kopplad nedärvning beroende på vilken gen som är inblandad.", "management": "Att känna till den specifika genetiska orsaken kan avsluta en diagnostisk sökning, vägleda stödjande vård och uppföljning, visa om en specifik behandling finns och göra det möjligt att testa släktingar.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/apnea" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "secondary-microcephaly", "name": "Development of small head that was not present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/secondary-microcephaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "ethylmalonic-aciduria", "name": "Ethylmalonic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ethylmalonic-aciduria" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "head-titubation", "name": "Head titubation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/head-titubation" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "impaired-vibration-sensation-in-the-lower-limbs", "name": "Impaired vibration sensation in the lower limbs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "lower-limb-muscle-weakness", "name": "Lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "progressive-spasticity", "name": "Progressive spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progressive-spasticity" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "spastic-gait", "name": "Spastic walk", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-gait" }, { "slug": "upper-limb-hyperreflexia", "name": "Upper limb hyperreflexia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upper-limb-hyperreflexia" }, { "slug": "urinary-bladder-sphincter-dysfunction", "name": "Urinary bladder sphincter dysfunction", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction" }, { "slug": "urinary-urgency", "name": "Urinary urgency", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-urgency" } ], "related": [ { "slug": "gjc2", "symbol": "GJC2", "name": "gap junction protein gamma 2", "shared": 3, "url": "https://dantelabs.com/sv/genes/gjc2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/abcd1" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/aimp1" }, { "slug": "plp1", "symbol": "PLP1", "name": "proteolipid protein 1", "shared": 2, "url": "https://dantelabs.com/sv/genes/plp1" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/sv/genes/aars2" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/sv/genes/abhd16a" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/sv/genes/adar" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/aimp2" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "shared": 1, "url": "https://dantelabs.com/sv/genes/aldh18a1" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/sv/genes/aldh3a2" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }