{ "url": "https://dantelabs.com/nl/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": "Erfelijke spastische paraplegie", "diseases": [ { "mondoId": "MONDO:0011532", "name": "Erfelijke spastische paraplegie 13", "genes": 1, "inheritance": "autosomal-dominant", "description": "Elke erfelijke spastische paraplegie waarbij de oorzaak van de ziekte een mutatie in het HSPD1-gen is.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019064", "name": "Hereditaire spastische paraplegie (alle typen)", "genes": 66, "inheritance": null, "description": "Overkoepelende term voor alle hereditaire spastische paraplegieën, waaronder SPG4 (SPAST), de meest voorkomende dominante vorm, en SPG5A, SPG6, SPG10, SPG18, SPG30 en SPG31.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/hereditary-spastic-paraplegia" }, { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Pelizaeus-Merzbacher-ziekte en hypomyeliniserende leukodystrofieën", "diseases": [ { "mondoId": "MONDO:0017226", "name": "Pelizaeus-Merzbacher-achtige ziekte (GJC2 en andere)", "genes": 3, "inheritance": "autosomal-recessive", "description": "Een aandoening die sterk lijkt op de Pelizaeus-Merzbacher-ziekte en meestal wordt veroorzaakt door veranderingen in GJC2, met vroege nystagmus, vertraagde ontwikkeling en later spasticiteit.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Overige erfelijke leukodystrofieën", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrofie (overige en niet-gespecificeerde typen)", "genes": 80, "inheritance": null, "description": "Erfelijke aandoeningen die de vorming van myeline, de witte stof van de hersenen en het ruggenmerg, beschadigen of normale vorming verhinderen. Afhankelijk van het betrokken gen volgen de verschillende typen autosomaal recessieve, autosomaal dominante of X-gebonden overerving.", "management": "Het kennen van de specifieke genetische oorzaak kan een diagnostisch zoektraject beëindigen, de ondersteunende zorg en controles sturen, laten zien of een specifieke behandeling bestaat, en het mogelijk maken familieleden te testen.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/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/nl/genes/gjc2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/abcd1" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/aimp1" }, { "slug": "plp1", "symbol": "PLP1", "name": "proteolipid protein 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/plp1" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/nl/genes/aars2" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/nl/genes/abhd16a" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/nl/genes/adar" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/aimp2" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "shared": 1, "url": "https://dantelabs.com/nl/genes/aldh18a1" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/nl/genes/aldh3a2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }