{ "url": "https://dantelabs.com/da/genes/spg21", "gene": { "slug": "spg21", "symbol": "SPG21", "name": "SPG21 abhydrolase domain containing, maspardin", "hgnc": "HGNC:20373", "summary": null, "location": "15q22.31", "locusType": "gene with protein product", "aliases": [ "ACP33", "GL010", "BM-019", "MAST", "ABHD21" ], "previousSymbols": [], "ensemblId": "ENSG00000090487", "entrezId": 51324, "omim": [ "608181" ], "uniprot": [ "Q9NZD8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 64963022, "end": 64989914, "strand": "-", "ensemblTranscript": "ENST00000204566.7", "refseqTranscript": "NM_016630.7", "ensemblProtein": "ENSP00000204566.2", "refseqProtein": "NP_057714.1", "exons": [ { "start": 64963022, "end": 64963736 }, { "start": 64965320, "end": 64965460 }, { "start": 64969255, "end": 64969362 }, { "start": 64970114, "end": 64970222 }, { "start": 64974602, "end": 64974747 }, { "start": 64976475, "end": 64976555 }, { "start": 64980864, "end": 64981025 }, { 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}, { "symbol": "UBAP1L", "ensemblId": "ENSG00000246922", "biotype": "protein_coding", "start": 65091766, "end": 65115200, "strand": "-", "slug": "ubap1l" }, { "symbol": "PDCD7", "ensemblId": "ENSG00000090470", "biotype": "protein_coding", "start": 65117379, "end": 65133836, "strand": "-", "slug": "pdcd7" }, { "symbol": "CLPX", "ensemblId": "ENSG00000166855", "biotype": "protein_coding", "start": 65148219, "end": 65185643, "strand": "-", "slug": "clpx" }, { "symbol": "CILP", "ensemblId": "ENSG00000138615", "biotype": "protein_coding", "start": 65194760, "end": 65211491, "strand": "-", "slug": "cilp" }, { "symbol": "PARP16", "ensemblId": "ENSG00000138617", "biotype": "protein_coding", "start": 65231398, "end": 65300618, "strand": "-", "slug": "parp16" }, { "symbol": "IGDCC3", "ensemblId": "ENSG00000174498", "biotype": "protein_coding", "start": 65327127, "end": 65378087, "strand": "-", "slug": "igdcc3" }, { "symbol": "IGDCC4", "ensemblId": "ENSG00000103742", "biotype": "protein_coding", "start": 65381479, "end": 65423083, "strand": "-", "slug": "igdcc4" }, { "symbol": "DPP8", "ensemblId": "ENSG00000074603", "biotype": "protein_coding", "start": 65442463, "end": 65517757, "strand": "-", "slug": "dpp8" } ], "truncated": false }, "reports": [ { "slug": "hereditary-spastic-paraplegia", "name": "Hereditær spastisk paraplegi", "diseases": [ { "mondoId": "MONDO:0019064", "name": "Hereditær spastisk paraplegi (alle typer)", "genes": 66, "inheritance": null, "description": "Samlebetegnelse for alle hereditære spastiske paraplegier, herunder SPG4 (SPAST), den hyppigste dominante form, samt SPG5A, SPG6, SPG10, SPG18, SPG30 og SPG31.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/hereditary-spastic-paraplegia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "abnormality-of-peripheral-nerve-conduction", "name": "Abnormality of peripheral nerve conduction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-peripheral-nerve-conduction" }, { "slug": "abnormal-cerebellum-morphology", "name": "Abnormality of the cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology" }, { "slug": "akinetic-mutism", "name": "Akinetic mutism", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/akinetic-mutism" }, { "slug": "apraxia", "name": "Apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/apraxia" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "dysgraphia", "name": "Dysgraphia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysgraphia" }, { "slug": "frontotemporal-cerebral-atrophy", "name": "Frontotemporal cerebral atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frontotemporal-cerebral-atrophy" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "incoordination", "name": "Incoordination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/incoordination" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "athetosis", "name": "Involuntary writhing movements in fingers, hands, toes, and feet", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/athetosis" }, { "slug": "jaw-hyperreflexia", "name": "Jaw hyperreflexia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/jaw-hyperreflexia" }, { "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": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "periventricular-white-matter-hyperintensities", "name": "Periventricular white matter hyperintensities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/periventricular-white-matter-hyperintensities" }, { "slug": "personality-disorder", "name": "Personality disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/personality-disorder" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "primitive-reflex", "name": "Primitive reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/primitive-reflex" }, { "slug": "spastic-paraparesis", "name": "Spastic paraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spastic-paraparesis" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" } ], "related": [ { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/da/genes/abcd1" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/da/genes/abhd16a" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "shared": 1, "url": "https://dantelabs.com/da/genes/aldh18a1" }, { "slug": "amfr", "symbol": "AMFR", "name": "autocrine motility factor receptor", "shared": 1, "url": "https://dantelabs.com/da/genes/amfr" }, { "slug": "ap4b1", "symbol": "AP4B1", "name": "adaptor related protein complex 4 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/da/genes/ap4b1" }, { "slug": "ap4e1", "symbol": "AP4E1", "name": "adaptor related protein complex 4 subunit epsilon 1", "shared": 1, "url": "https://dantelabs.com/da/genes/ap4e1" }, { "slug": "ap4m1", "symbol": "AP4M1", "name": "adaptor related protein complex 4 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/da/genes/ap4m1" }, { "slug": "ap4s1", "symbol": "AP4S1", "name": "adaptor related protein complex 4 subunit sigma 1", "shared": 1, "url": "https://dantelabs.com/da/genes/ap4s1" }, { "slug": "ap5z1", "symbol": "AP5Z1", "name": "adaptor related protein complex 5 subunit zeta 1", "shared": 1, "url": "https://dantelabs.com/da/genes/ap5z1" }, { "slug": "arl6ip1", "symbol": "ARL6IP1", "name": "ARL6 interacting reticulophagy regulator 1", "shared": 1, "url": "https://dantelabs.com/da/genes/arl6ip1" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/da/genes/atl1" }, { "slug": "atp13a2", "symbol": "ATP13A2", "name": "ATPase cation transporting 13A2", "shared": 1, "url": "https://dantelabs.com/da/genes/atp13a2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }