{ "url": "https://dantelabs.com/fi/genes/pnkd", "gene": { "slug": "pnkd", "symbol": "PNKD", "name": "PNKD metallo-beta-lactamase domain containing", "hgnc": "HGNC:9153", "summary": null, "location": "2q35", "locusType": "gene with protein product", "aliases": [ "DYT8", "PDC", "DKFZp564N1362", "FPD1", "MR-1", "BRP17", "FKSG19", "TAHCCP2", "KIAA1184", "KIPP1184", "MGC31943", "PKND1", "MR-1S" ], "previousSymbols": [], "ensemblId": "ENSG00000127838", "entrezId": 25953, "omim": [ "609023" ], "uniprot": [ "Q8N490" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 218270519, "end": 218346793, "strand": "+", "ensemblTranscript": "ENST00000273077.9", "refseqTranscript": "NM_015488.5", "ensemblProtein": "ENSP00000273077.4", "refseqProtein": "NP_056303.3", "exons": [ { "start": 218270519, "end": 218270602 }, { "start": 218271381, "end": 218271549 }, { "start": 218339783, "end": 218339898 }, { "start": 218340029, "end": 218340141 }, { "start": 218340728, "end": 218340786 }, { "start": 218341534, "end": 218341626 }, { "start": 218341981, "end": 218342144 }, { "start": 218343500, "end": 218343586 }, { "start": 218344455, "end": 218344570 }, { "start": 218344808, "end": 218346793 } ], "cds": { "start": 218270536, "end": 218344981 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 219135115, "end": 219211516, "strand": "+" }, "neighbourhood": { "release": "116", "start": 217808656, "end": 218808655, "genes": [ { "symbol": "TNS1", "ensemblId": "ENSG00000079308", "biotype": "protein_coding", "start": 217799588, "end": 218033982, "strand": "-", "slug": "tns1" }, { "symbol": "RUFY4", "ensemblId": "ENSG00000188282", "biotype": "protein_coding", "start": 218034960, "end": 218090649, "strand": "+", "slug": "rufy4" }, { "symbol": "CXCR2", "ensemblId": "ENSG00000180871", "biotype": "protein_coding", "start": 218125269, "end": 218137251, "strand": "+", "slug": "cxcr2" }, { "symbol": "CXCR1", "ensemblId": "ENSG00000163464", "biotype": "protein_coding", "start": 218162841, "end": 218166969, "strand": "-", "slug": "cxcr1" }, { "symbol": "ARPC2", "ensemblId": "ENSG00000163466", "biotype": "protein_coding", "start": 218216630, "end": 218254356, "strand": "+", "slug": "arpc2" }, { "symbol": "GPBAR1", "ensemblId": "ENSG00000179921", "biotype": "protein_coding", "start": 218259496, "end": 218263861, "strand": "+", "slug": "gpbar1" }, { "symbol": "AAMP", "ensemblId": "ENSG00000127837", "biotype": "protein_coding", "start": 218264125, "end": 218270889, "strand": "-", "slug": "aamp" }, { "symbol": "TMBIM1", "ensemblId": "ENSG00000135926", "biotype": "protein_coding", "start": 218274193, "end": 218292589, "strand": "-", "slug": "tmbim1" }, { "symbol": "CATIP", "ensemblId": "ENSG00000158428", "biotype": "protein_coding", "start": 218356838, "end": 218369962, "strand": "+", "slug": "catip" }, { "symbol": "SLC11A1", "ensemblId": "ENSG00000018280", "biotype": "protein_coding", "start": 218382006, "end": 218396906, "strand": "+", "slug": "slc11a1" }, { "symbol": "CTDSP1", "ensemblId": "ENSG00000144579", "biotype": "protein_coding", "start": 218397136, "end": 218405942, "strand": "+", "slug": "ctdsp1" }, { "symbol": "VIL1", "ensemblId": "ENSG00000127831", "biotype": "protein_coding", "start": 218419083, "end": 218453295, "strand": "+", "slug": "vil1" }, { "symbol": "USP37", "ensemblId": "ENSG00000135913", "biotype": "protein_coding", "start": 218450251, "end": 218568768, "strand": "-", "slug": "usp37" }, { "symbol": "CNOT9", "ensemblId": "ENSG00000144580", "biotype": "protein_coding", "start": 218568575, "end": 218597080, "strand": "+", "slug": "cnot9" }, { "symbol": "PLCD4", "ensemblId": "ENSG00000115556", "biotype": "protein_coding", "start": 218607855, "end": 218637186, "strand": "+", "slug": "plcd4" }, { "symbol": "ZNF142", "ensemblId": "ENSG00000115568", "biotype": "protein_coding", "start": 218633329, "end": 218659655, "strand": "-", "slug": "znf142" }, { "symbol": "BCS1L", "ensemblId": "ENSG00000074582", "biotype": "protein_coding", "start": 218658764, "end": 218668759, "strand": "+", "slug": "bcs1l" }, { "symbol": "RNF25", "ensemblId": "ENSG00000163481", "biotype": "protein_coding", "start": 218662081, "end": 218672009, "strand": "-", "slug": "rnf25" }, { "symbol": "STK36", "ensemblId": "ENSG00000163482", "biotype": "protein_coding", "start": 218672027, "end": 218702717, "strand": "+", "slug": "stk36" }, { "symbol": "TTLL4", "ensemblId": "ENSG00000135912", "biotype": "protein_coding", "start": 218710773, "end": 218759724, "strand": "+", "slug": "ttll4" }, { "symbol": "CYP27A1", "ensemblId": "ENSG00000135929", "biotype": "protein_coding", "start": 218781688, "end": 218825335, "strand": "+", "slug": "cyp27a1" } ], "truncated": false }, "reports": [ { "slug": "dystonia-myotonia-paroxysmal-dyskinesia", "name": "Dystonia, myotonia, paroksysmaalinen dyskinesia", "diseases": [ { "mondoId": "MONDO:0015427", "name": "Paroksysmaalinen dyskinesia", "genes": 5, "inheritance": "autosomal-dominant", "description": "Paroksysmaalinen dyskinesia (PD) on harvinainen, osin erilaisista muodoista koostuva liikehäiriöryhmä, jossa esiintyy poikkeavia tahattomia liikkeitä. Ne toistuvat jaksoittain ja kestävät vain lyhyen aikaa. PD:hen kuuluvat paroksysmaalinen kinesigeeninen dyskinesia (PKD), paroksysmaalinen ei-kinesigeeninen dyskinesia (PNKD), paroksysmaalinen rasituksen aiheuttama dyskinesia (PED) sekä PKD:n muunnelmamuoto, lapsuusiän kouristukset ja korea-atetoosi (ICCA-oireyhtymä).", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0044807", "name": "Perinnöllinen dystonia", "genes": 34, "inheritance": null, "description": "Yleisnimitys perinnöllisille dystonioille, mukaan lukien DYT-TOR1A-varhaisalkuinen yleistynyt dystonia, DYT-THAP1, myoklonus-dystonia (SGCE) ja KMT2B-liitännäinen dystonia.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/dystonia-myotonia-paroxysmal-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chorea" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "trismus", "name": "Decrease in jaw mobility", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/trismus" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dyskinesia", "name": "Disorder of involuntary muscle movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyskinesia" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "facial-grimacing", "name": "Facial grimacing", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/facial-grimacing" }, { "slug": "generalized-muscle-weakness", "name": "Generalized muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "slug": "hyperkinetic-movements", "name": "Hyperactive movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperkinetic-movements" }, { "slug": "involuntary-movements", "name": "Involuntary movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/involuntary-movements" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "myokymia", "name": "Myokymia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myokymia" }, { "slug": "paroxysmal-choreoathetosis", "name": "Paroxysmal choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/paroxysmal-choreoathetosis" }, { "slug": "paroxysmal-dyskinesia", "name": "Paroxysmal dyskinesia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/paroxysmal-dyskinesia" }, { "slug": "paroxysmal-dystonia", "name": "Paroxysmal dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/paroxysmal-dystonia" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "staring-gaze", "name": "Staring gaze", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/staring-gaze" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [ { "slug": "kcnj10", "symbol": "KCNJ10", "name": "potassium inwardly rectifying channel subfamily J member 10", "shared": 2, "url": "https://dantelabs.com/fi/genes/kcnj10" }, { "slug": "prrt2", "symbol": "PRRT2", "name": "proline rich transmembrane protein 2", "shared": 2, "url": "https://dantelabs.com/fi/genes/prrt2" }, { "slug": "slc2a1", "symbol": "SLC2A1", "name": "solute carrier family 2 member 1", "shared": 2, "url": "https://dantelabs.com/fi/genes/slc2a1" }, { "slug": "tmem151a", "symbol": "TMEM151A", "name": "transmembrane protein 151A", "shared": 2, "url": "https://dantelabs.com/fi/genes/tmem151a" }, { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/fi/genes/actb" }, { "slug": "ano3", "symbol": "ANO3", "name": "anoctamin 3", "shared": 1, "url": "https://dantelabs.com/fi/genes/ano3" }, { "slug": "arfgef3", "symbol": "ARFGEF3", "name": "ARFGEF family member 3", "shared": 1, "url": "https://dantelabs.com/fi/genes/arfgef3" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/fi/genes/atp1a3" }, { "slug": "bcap31", "symbol": "BCAP31", "name": "B cell receptor associated protein 31", "shared": 1, "url": "https://dantelabs.com/fi/genes/bcap31" }, { "slug": "col6a3", "symbol": "COL6A3", "name": "collagen type VI alpha 3 chain", "shared": 1, "url": "https://dantelabs.com/fi/genes/col6a3" }, { "slug": "dcaf17", "symbol": "DCAF17", "name": "DDB1 and CUL4 associated factor 17", "shared": 1, "url": "https://dantelabs.com/fi/genes/dcaf17" }, { "slug": "gch1", "symbol": "GCH1", "name": "GTP cyclohydrolase 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/gch1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }