{"count":35557,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=204","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=202","results":[{"gene_data":{"alias":["KIAA0717","DBC2"],"biotype":"protein_coding","hgnc_id":"HGNC:18756","gene_name":"Rho related BTB domain containing 2","omim_gene":["607352"],"alias_name":null,"gene_symbol":"RHOBTB2","hgnc_symbol":"RHOBTB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:22844930-22877712","ensembl_id":"ENSG00000008853"}},"GRch38":{"90":{"location":"8:22987417-23020199","ensembl_id":"ENSG00000008853"}}},"hgnc_date_symbol_changed":"2002-06-21"},"entity_type":"gene","entity_name":"RHOBTB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID 29276004"],"evidence":["Expert Review Green","Other"],"phenotypes":["Epileptic encephalopathy, early infantile, 64, MIM#\t618004","Paroxysmal movement disorder"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. 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If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1171","TLDC6","DFNA65"],"biotype":"protein_coding","hgnc_id":"HGNC:29203","gene_name":"TBC1 domain family member 24","omim_gene":["613577"],"alias_name":["TBC/LysM-associated domain containing 6","skywalker homolog (Drosophila)"],"gene_symbol":"TBC1D24","hgnc_symbol":"TBC1D24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2525147-2555735","ensembl_id":"ENSG00000162065"}},"GRch38":{"90":{"location":"16:2475051-2509560","ensembl_id":"ENSG00000162065"}}},"hgnc_date_symbol_changed":"2006-04-07"},"entity_type":"gene","entity_name":"TBC1D24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID 31257402","PMID 31226716","PMID 25719194"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, MIM# 608105","Episodic dystonia (Exercise induced or without clear trigger)","epilepsy","myoclonus","hearing loss"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SSADH","SSDH"],"biotype":"protein_coding","hgnc_id":"HGNC:408","gene_name":"aldehyde dehydrogenase 5 family member A1","omim_gene":["610045"],"alias_name":["succinate-semialdehyde dehydrogenase"],"gene_symbol":"ALDH5A1","hgnc_symbol":"ALDH5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24495080-24537435","ensembl_id":"ENSG00000112294"}},"GRch38":{"90":{"location":"6:24494852-24537207","ensembl_id":"ENSG00000112294"}}},"hgnc_date_symbol_changed":"1999-06-11"},"entity_type":"gene","entity_name":"ALDH5A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17438226","38499966"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Succinic semialdehyde dehydrogenase deficiency, MIM# 271980"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AC5"],"biotype":"protein_coding","hgnc_id":"HGNC:236","gene_name":"adenylate cyclase 5","omim_gene":["600293"],"alias_name":null,"gene_symbol":"ADCY5","hgnc_symbol":"ADCY5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:123001143-123168605","ensembl_id":"ENSG00000173175"}},"GRch38":{"90":{"location":"3:123282296-123449758","ensembl_id":"ENSG00000173175"}}},"hgnc_date_symbol_changed":"1994-07-22"},"entity_type":"gene","entity_name":"ADCY5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22782511","24700542","33051786","32647899","33704598","34631954","28971144","30975617"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Dyskinesia, familial, with facial myokymia, MIM# 606703","MONDO:0011707","Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647","Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. 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If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4326","gene_name":"glycine receptor alpha 1","omim_gene":["138491"],"alias_name":["stiff person syndrome"],"gene_symbol":"GLRA1","hgnc_symbol":"GLRA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:151202074-151304403","ensembl_id":"ENSG00000145888"}},"GRch38":{"90":{"location":"5:151822513-151924842","ensembl_id":"ENSG00000145888"}}},"hgnc_date_symbol_changed":"1990-06-15"},"entity_type":"gene","entity_name":"GLRA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8298642","16832093"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Hyperekplexia 1, MIM# 149400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["G-ALPHA-o"],"biotype":"protein_coding","hgnc_id":"HGNC:4389","gene_name":"G protein subunit alpha o1","omim_gene":["139311"],"alias_name":null,"gene_symbol":"GNAO1","hgnc_symbol":"GNAO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56225302-56391356","ensembl_id":"ENSG00000087258"}},"GRch38":{"90":{"location":"16:56191347-56357457","ensembl_id":"ENSG00000087258"}}},"hgnc_date_symbol_changed":"1988-04-24"},"entity_type":"gene","entity_name":"GNAO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["28747448","30682224"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Epileptic encephalopathy, early infantile, 17","Neurodevelopmental disorder with involuntary movements"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:801","gene_name":"ATPase Na+/K+ transporting subunit alpha 3","omim_gene":["182350"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-3","sodium pump subunit alpha-3","sodium-potassium ATPase catalytic subunit alpha-3"],"gene_symbol":"ATP1A3","hgnc_symbol":"ATP1A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42470734-42501649","ensembl_id":"ENSG00000105409"}},"GRch38":{"90":{"location":"19:41966582-41997497","ensembl_id":"ENSG00000105409"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP1A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15260953, 22842232, 24468074, 33762331, 29861155, 31425744"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["ATP1A3-associated neurological disorder, MONDO:0700002"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EJM4"],"biotype":"protein_coding","hgnc_id":"HGNC:1404","gene_name":"calcium voltage-gated channel auxiliary subunit beta 4","omim_gene":["601949"],"alias_name":null,"gene_symbol":"CACNB4","hgnc_symbol":"CACNB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:152689290-152955593","ensembl_id":"ENSG00000182389"}},"GRch38":{"90":{"location":"2:151832768-152099475","ensembl_id":"ENSG00000182389"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"CACNB4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["10762541","9628818","27003325"],"evidence":["Expert Review Amber","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Episodic ataxia, type 5, MIM#613855"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav2.1","EA2","APCA","HPCA","FHM"],"biotype":"protein_coding","hgnc_id":"HGNC:1388","gene_name":"calcium voltage-gated channel subunit alpha1 A","omim_gene":["601011"],"alias_name":null,"gene_symbol":"CACNA1A","hgnc_symbol":"CACNA1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13317256-13734804","ensembl_id":"ENSG00000141837"}},"GRch38":{"90":{"location":"19:13206442-13633025","ensembl_id":"ENSG00000141837"}}},"hgnc_date_symbol_changed":"1996-06-18"},"entity_type":"gene","entity_name":"CACNA1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FHM2"],"biotype":"protein_coding","hgnc_id":"HGNC:800","gene_name":"ATPase Na+/K+ transporting subunit alpha 2","omim_gene":["182340"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-2","sodium pump subunit alpha-2","sodium-potassium ATPase catalytic subunit alpha-2"],"gene_symbol":"ATP1A2","hgnc_symbol":"ATP1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160085549-160113381","ensembl_id":"ENSG00000018625"}},"GRch38":{"90":{"location":"1:160115759-160143591","ensembl_id":"ENSG00000018625"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ATP1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir2.1","IRK1","LQT7"],"biotype":"protein_coding","hgnc_id":"HGNC:6263","gene_name":"potassium voltage-gated channel subfamily J member 2","omim_gene":["600681"],"alias_name":null,"gene_symbol":"KCNJ2","hgnc_symbol":"KCNJ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:68164814-68176189","ensembl_id":"ENSG00000123700"}},"GRch38":{"90":{"location":"17:70168673-70180048","ensembl_id":"ENSG00000123700"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"KCNJ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav1.1","hypoPP"],"biotype":"protein_coding","hgnc_id":"HGNC:1397","gene_name":"calcium voltage-gated channel subunit alpha1 S","omim_gene":["114208"],"alias_name":null,"gene_symbol":"CACNA1S","hgnc_symbol":"CACNA1S","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201008642-201081694","ensembl_id":"ENSG00000081248"}},"GRch38":{"90":{"location":"1:201039512-201112566","ensembl_id":"ENSG00000081248"}}},"hgnc_date_symbol_changed":"1992-03-27"},"entity_type":"gene","entity_name":"CACNA1S","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11591859"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Hypokalemic periodic paralysis, type 1, MIM# 170400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KCa1.1","mSLO1"],"biotype":"protein_coding","hgnc_id":"HGNC:6284","gene_name":"potassium calcium-activated channel subfamily M alpha 1","omim_gene":["600150"],"alias_name":["BK channel alpha subunit","maxiK channel","big potassium channel alpha subunit"],"gene_symbol":"KCNMA1","hgnc_symbol":"KCNMA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:78629359-79398353","ensembl_id":"ENSG00000156113"}},"GRch38":{"90":{"location":"10:76869601-77638369","ensembl_id":"ENSG00000156113"}}},"hgnc_date_symbol_changed":"1994-12-15"},"entity_type":"gene","entity_name":"KCNMA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15937479","26195193"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.4","HYPP","SkM1"],"biotype":"protein_coding","hgnc_id":"HGNC:10591","gene_name":"sodium voltage-gated channel alpha subunit 4","omim_gene":["603967"],"alias_name":null,"gene_symbol":"SCN4A","hgnc_symbol":"SCN4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62015914-62050278","ensembl_id":"ENSG00000007314"}},"GRch38":{"90":{"location":"17:63938554-63972918","ensembl_id":"ENSG00000007314"}}},"hgnc_date_symbol_changed":"1990-09-30"},"entity_type":"gene","entity_name":"SCN4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SDR38C1"],"biotype":"protein_coding","hgnc_id":"HGNC:11257","gene_name":"sepiapterin reductase","omim_gene":["182125"],"alias_name":["short chain dehydrogenase/reductase family 38C, member 1","Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)"],"gene_symbol":"SPR","hgnc_symbol":"SPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73114489-73119287","ensembl_id":"ENSG00000116096"}},"GRch38":{"90":{"location":"2:72887360-72892158","ensembl_id":"ENSG00000116096"}}},"hgnc_date_symbol_changed":"1991-12-05"},"entity_type":"gene","entity_name":"SPR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32591469"],"evidence":["Expert Review Amber","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GLYT2"],"biotype":"protein_coding","hgnc_id":"HGNC:11051","gene_name":"solute carrier family 6 member 5","omim_gene":["604159"],"alias_name":["glycine transporter 2"],"gene_symbol":"SLC6A5","hgnc_symbol":"SLC6A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:20620946-20680831","ensembl_id":"ENSG00000165970"}},"GRch38":{"90":{"location":"11:20599400-20659285","ensembl_id":"ENSG00000165970"}}},"hgnc_date_symbol_changed":"1997-12-05"},"entity_type":"gene","entity_name":"SLC6A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31604777","30847549","29859229","16751771"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Hyperekplexia 3, MIM# 614618"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:870","gene_name":"ATPase copper transporting beta","omim_gene":["606882"],"alias_name":["Wilson disease","copper pump 2","copper-transporting ATPase 2"],"gene_symbol":"ATP7B","hgnc_symbol":"ATP7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52506809-52585630","ensembl_id":"ENSG00000123191"}},"GRch38":{"90":{"location":"13:51930436-52012125","ensembl_id":"ENSG00000123191"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32662046"],"evidence":["Expert Review Amber","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Wilson disease, MIM# 277900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DYT18","DYT9"],"biotype":"protein_coding","hgnc_id":"HGNC:11005","gene_name":"solute carrier family 2 member 1","omim_gene":["138140"],"alias_name":null,"gene_symbol":"SLC2A1","hgnc_symbol":"SLC2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43391052-43424530","ensembl_id":"ENSG00000117394"}},"GRch38":{"90":{"location":"1:42925375-42959173","ensembl_id":"ENSG00000117394"}}},"hgnc_date_symbol_changed":"1994-11-18"},"entity_type":"gene","entity_name":"SLC2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18451999","34279792","18577546","34305802","27098784"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["GLUT1 deficiency syndrome MONDO:0000188"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EAAT1","GLAST","EA6"],"biotype":"protein_coding","hgnc_id":"HGNC:10941","gene_name":"solute carrier family 1 member 3","omim_gene":["600111"],"alias_name":["glutamate transporter variant EAAT1ex9skip"],"gene_symbol":"SLC1A3","hgnc_symbol":"SLC1A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36606457-36688436","ensembl_id":"ENSG00000079215"}},"GRch38":{"90":{"location":"5:36606355-36688334","ensembl_id":"ENSG00000079215"}}},"hgnc_date_symbol_changed":"1994-02-15"},"entity_type":"gene","entity_name":"SLC1A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19139306","16116111","29208948","27829685"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Episodic ataxia, type 6, MIM# 612656"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26677014","29356177","25799905"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Complex neurodevelopmental disorder MONDO:0100038"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.2","HBSCII","HBSCI"],"biotype":"protein_coding","hgnc_id":"HGNC:10588","gene_name":"sodium voltage-gated channel alpha subunit 2","omim_gene":["182390"],"alias_name":null,"gene_symbol":"SCN2A","hgnc_symbol":"SCN2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166095912-166248818","ensembl_id":"ENSG00000136531"}},"GRch38":{"90":{"location":"2:165194993-165392310","ensembl_id":"ENSG00000136531"}}},"hgnc_date_symbol_changed":"2007-01-23"},"entity_type":"gene","entity_name":"SCN2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ25513","DKFZp547J199","IFITMD1","FICCA","DSPB3","PKC","EKD1"],"biotype":"protein_coding","hgnc_id":"HGNC:30500","gene_name":"proline rich transmembrane protein 2","omim_gene":["614386"],"alias_name":["interferon induced transmembrane protein domain containing 1"],"gene_symbol":"PRRT2","hgnc_symbol":"PRRT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29823177-29827201","ensembl_id":"ENSG00000167371"}},"GRch38":{"90":{"location":"16:29811382-29815892","ensembl_id":"ENSG00000167371"}}},"hgnc_date_symbol_changed":"2005-11-25"},"entity_type":"gene","entity_name":"PRRT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33126500"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["PRRT2-associated paroxysmal movement disorder MONDO:0100556"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DYT8","PDC","DKFZp564N1362","FPD1","MR-1","BRP17","FKSG19","TAHCCP2","KIAA1184","KIPP1184","MGC31943","PKND1"],"biotype":"protein_coding","hgnc_id":"HGNC:9153","gene_name":"paroxysmal nonkinesigenic dyskinesia","omim_gene":["609023"],"alias_name":["myofibrillogenesis regulator 1"],"gene_symbol":"PNKD","hgnc_symbol":"PNKD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219135115-219211516","ensembl_id":"ENSG00000127838"}},"GRch38":{"90":{"location":"2:218270392-218346793","ensembl_id":"ENSG00000127838"}}},"hgnc_date_symbol_changed":"1996-09-13"},"entity_type":"gene","entity_name":"PNKD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.3"],"biotype":"protein_coding","hgnc_id":"HGNC:6297","gene_name":"potassium voltage-gated channel subfamily Q member 3","omim_gene":["602232"],"alias_name":null,"gene_symbol":"KCNQ3","hgnc_symbol":"KCNQ3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:133133108-133493200","ensembl_id":"ENSG00000184156"}},"GRch38":{"90":{"location":"8:132120858-132481019","ensembl_id":"ENSG00000184156"}}},"hgnc_date_symbol_changed":"1998-01-12"},"entity_type":"gene","entity_name":"KCNQ3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33337327","25524373","24851285"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Seizures, benign neonatal, 2, MIM# 121201"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.2","ENB1","BFNC","KCNA11","HNSPC"],"biotype":"protein_coding","hgnc_id":"HGNC:6296","gene_name":"potassium voltage-gated channel subfamily Q member 2","omim_gene":["602235"],"alias_name":null,"gene_symbol":"KCNQ2","hgnc_symbol":"KCNQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62037542-62103993","ensembl_id":"ENSG00000075043"}},"GRch38":{"90":{"location":"20:63400210-63472677","ensembl_id":"ENSG00000075043"}}},"hgnc_date_symbol_changed":"1998-01-12"},"entity_type":"gene","entity_name":"KCNQ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv1.2","HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:6220","gene_name":"potassium voltage-gated channel subfamily A member 2","omim_gene":["176262"],"alias_name":null,"gene_symbol":"KCNA2","hgnc_symbol":"KCNA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:111136202-111174096","ensembl_id":"ENSG00000177301"}},"GRch38":{"90":{"location":"1:110519837-110631474","ensembl_id":"ENSG00000177301"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27733563","27543892","25477152"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Episodic ataxia","Epileptic encephalopathy, early infantile, 32, MIM# 616366"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv1.1","RBK1","HUK1","MBK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6218","gene_name":"potassium voltage-gated channel subfamily A member 1","omim_gene":["176260"],"alias_name":null,"gene_symbol":"KCNA1","hgnc_symbol":"KCNA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:5019071-5040527","ensembl_id":"ENSG00000111262"}},"GRch38":{"90":{"location":"12:4909893-4918256","ensembl_id":"ENSG00000111262"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4329","gene_name":"glycine receptor beta","omim_gene":["138492"],"alias_name":null,"gene_symbol":"GLRB","hgnc_symbol":"GLRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:157997209-158093242","ensembl_id":"ENSG00000109738"}},"GRch38":{"90":{"location":"4:157076057-157172090","ensembl_id":"ENSG00000109738"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"GLRB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21391991","11929858","27843043"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Hyperekplexia 2, MIM# 614619"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33486"],"biotype":"protein_coding","hgnc_id":"HGNC:28497","gene_name":"transmembrane protein 151A","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM151A","hgnc_symbol":"TMEM151A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66059341-66064135","ensembl_id":"ENSG00000179292"}},"GRch38":{"90":{"location":"11:66291870-66296664","ensembl_id":"ENSG00000179292"}}},"hgnc_date_symbol_changed":"2007-10-25"},"entity_type":"gene","entity_name":"TMEM151A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34820915","34518509"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Paroxysmal Kinesigenic Dyskinesia","episodic kinesigenic dyskinesia MONDO:0044202"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLC1","ClC-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2019","gene_name":"chloride voltage-gated channel 1","omim_gene":["118425"],"alias_name":["Thomsen disease, autosomal dominant"],"gene_symbol":"CLCN1","hgnc_symbol":"CLCN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:143013219-143049176","ensembl_id":"ENSG00000188037"}},"GRch38":{"90":{"location":"7:143316126-143352083","ensembl_id":"ENSG00000188037"}}},"hgnc_date_symbol_changed":"1992-10-13"},"entity_type":"gene","entity_name":"CLCN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Myotonia congenita, dominant, MIM#\t160800","Myotonia congenita, recessive, MIM#\t255700"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20022530","29093066"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pyruvate dehydrogenase E2 deficiency, MIM# 245348","Episodic dystonia (Exercise induced or without clear trigger)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GTPCH1","DYT5a"],"biotype":"protein_coding","hgnc_id":"HGNC:4193","gene_name":"GTP cyclohydrolase 1","omim_gene":["600225"],"alias_name":["dopa-responsive dystonia"],"gene_symbol":"GCH1","hgnc_symbol":"GCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55308726-55369570","ensembl_id":"ENSG00000131979"}},"GRch38":{"90":{"location":"14:54842008-54902852","ensembl_id":"ENSG00000131979"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"GCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dopa-responsive dystonia","exercise-induced dystonia","Dystonia, DOPA-responsive, with or without hyperphenylalaninemia\t128230"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8806","gene_name":"pyruvate dehydrogenase E1 alpha 1 subunit","omim_gene":["300502"],"alias_name":["pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial"],"gene_symbol":"PDHA1","hgnc_symbol":"PDHA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:19362011-19379823","ensembl_id":"ENSG00000131828"}},"GRch38":{"90":{"location":"X:19343893-19361705","ensembl_id":"ENSG00000131828"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20002125","22079328"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170","Paroxysmal dyskinesia (exercise induced or without clear trigger"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["E3BP","proX","PDX1","OPDX","DLDBP"],"biotype":"protein_coding","hgnc_id":"HGNC:21350","gene_name":"pyruvate dehydrogenase complex component X","omim_gene":["608769"],"alias_name":null,"gene_symbol":"PDHX","hgnc_symbol":"PDHX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:34937376-35042138","ensembl_id":"ENSG00000110435"}},"GRch38":{"90":{"location":"11:34915829-35020591","ensembl_id":"ENSG00000110435"}}},"hgnc_date_symbol_changed":"2003-06-24"},"entity_type":"gene","entity_name":"PDHX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16566017","20002125"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lactic acidemia due to PDX1 deficiency, MIM# 245349","episodic dystonia","Paroxysmal dyskinesia (exercise induced or without clear trigger","isolated or with additional features)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8777","gene_name":"phosphodiesterase 2A","omim_gene":["602658"],"alias_name":null,"gene_symbol":"PDE2A","hgnc_symbol":"PDE2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:72287185-72385635","ensembl_id":"ENSG00000186642"}},"GRch38":{"90":{"location":"11:72576141-72674591","ensembl_id":"ENSG00000186642"}}},"hgnc_date_symbol_changed":"1997-11-10"},"entity_type":"gene","entity_name":"PDE2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32467598","32196122","29392776","37317634"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Paroxysmal dyskinesia","Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SCEH"],"biotype":"protein_coding","hgnc_id":"HGNC:3151","gene_name":"enoyl-CoA hydratase, short chain 1","omim_gene":["602292"],"alias_name":["short chain enoyl-CoA hydratase"],"gene_symbol":"ECHS1","hgnc_symbol":"ECHS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:135175984-135187193","ensembl_id":"ENSG00000127884"}},"GRch38":{"90":{"location":"10:133362480-133373689","ensembl_id":"ENSG00000127884"}}},"hgnc_date_symbol_changed":"1996-12-17"},"entity_type":"gene","entity_name":"ECHS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27090768","28039521"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277","paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPETRL1","BEC1"],"biotype":"protein_coding","hgnc_id":"HGNC:2047","gene_name":"claudin 5","omim_gene":["602101"],"alias_name":null,"gene_symbol":"CLDN5","hgnc_symbol":"CLDN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19510547-19515068","ensembl_id":"ENSG00000184113"}},"GRch38":{"90":{"location":"22:19523024-19527545","ensembl_id":"ENSG00000184113"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"CLDN5","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["35714222","36825455"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Syndromic disorder, MONDO:0002254, CLDN5-related","familial migraine","alternating hemiplegia","hemiplegic migraine","brain calcification","acquired microcephaly","epilepsy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:19918","gene_name":"myogenesis regulating glycosidase (putative)","omim_gene":null,"alias_name":null,"gene_symbol":"KIAA1161","hgnc_symbol":"MYORG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34366668-34376851","ensembl_id":"ENSG00000164976"}},"GRch38":{"90":{"location":"9:34366670-34376853","ensembl_id":"ENSG00000164976"}}},"hgnc_date_symbol_changed":"2017-07-26"},"entity_type":"gene","entity_name":"KIAA1161","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["34346093","34783389","32303062"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317","paroxysmal dyskinesia","brain calcification","episodic hemiparesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDJ","AR-JP","parkin"],"biotype":"protein_coding","hgnc_id":"HGNC:8607","gene_name":"parkin RBR E3 ubiquitin protein ligase","omim_gene":["602544"],"alias_name":["E3 ubiquitin ligase"],"gene_symbol":"PRKN","hgnc_symbol":"PRKN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:161768452-163148803","ensembl_id":"ENSG00000185345"}},"GRch38":{"90":{"location":"6:161347420-162727771","ensembl_id":"ENSG00000185345"}}},"hgnc_date_symbol_changed":"2017-02-20"},"entity_type":"gene","entity_name":"PRKN","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["37205242"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Parkinson disease, juvenile, type 2 MIM#600116","paroxysmal exercise induced dyskinesia","fasting induced dyskinesia","early onset parkinsonism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10539","Shq1p"],"biotype":"protein_coding","hgnc_id":"HGNC:25543","gene_name":"SHQ1, H/ACA ribonucleoprotein assembly factor","omim_gene":["613663"],"alias_name":null,"gene_symbol":"SHQ1","hgnc_symbol":"SHQ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:72798428-72911065","ensembl_id":"ENSG00000144736"}},"GRch38":{"90":{"location":"3:72749277-72861914","ensembl_id":"ENSG00000144736"}}},"hgnc_date_symbol_changed":"2005-02-08"},"entity_type":"gene","entity_name":"SHQ1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36847845"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with dystonia and seizures, MIM# 619922"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JP-3","CAGL237","HDL2","JP3"],"biotype":"protein_coding","hgnc_id":"HGNC:14203","gene_name":"junctophilin 3","omim_gene":["605268"],"alias_name":null,"gene_symbol":"JPH3","hgnc_symbol":"JPH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:87635441-87731762","ensembl_id":"ENSG00000154118"}},"GRch38":{"90":{"location":"16:87601835-87698156","ensembl_id":"ENSG00000154118"}}},"hgnc_date_symbol_changed":"2000-12-08"},"entity_type":"gene","entity_name":"JPH3","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 36273396"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["paroxysmal dystonia, intellectual disability"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GABAT"],"biotype":"protein_coding","hgnc_id":"HGNC:23","gene_name":"4-aminobutyrate aminotransferase","omim_gene":["137150"],"alias_name":["4-aminobutyrate transaminase"],"gene_symbol":"ABAT","hgnc_symbol":"ABAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8768422-8878432","ensembl_id":"ENSG00000183044"}},"GRch38":{"90":{"location":"16:8674565-8784575","ensembl_id":"ENSG00000183044"}}},"hgnc_date_symbol_changed":"1996-03-13"},"entity_type":"gene","entity_name":"ABAT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30617166"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["GABA-transaminase deficiency, MIM# 613163","intellectual disability","autism","DEE","epilepsy","paroxysmal dyskinesia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1544","BCL8B","FLJ10197","LYST2"],"biotype":"protein_coding","hgnc_id":"HGNC:7648","gene_name":"neurobeachin","omim_gene":["604889"],"alias_name":null,"gene_symbol":"NBEA","hgnc_symbol":"NBEA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:35516424-36247159","ensembl_id":"ENSG00000172915"}},"GRch38":{"90":{"location":"13:34942287-35673022","ensembl_id":"ENSG00000172915"}}},"hgnc_date_symbol_changed":"1999-12-16"},"entity_type":"gene","entity_name":"NBEA","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["33692494"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157","Paroxysmal Kinesigenic Dyskinesia","DEE","autism","intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. 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If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir4.1","Kir1.2"],"biotype":"protein_coding","hgnc_id":"HGNC:6256","gene_name":"potassium voltage-gated channel subfamily J member 10","omim_gene":["602208"],"alias_name":null,"gene_symbol":"KCNJ10","hgnc_symbol":"KCNJ10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160007257-160040038","ensembl_id":"ENSG00000177807"}},"GRch38":{"90":{"location":"1:159998651-160070483","ensembl_id":"ENSG00000177807"}}},"hgnc_date_symbol_changed":"1996-07-26"},"entity_type":"gene","entity_name":"KCNJ10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38979912","38436103"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Paroxysmal dyskinesia, MONDO:0015427, KCNJ10-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. 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If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4083","gene_name":"gamma-aminobutyric acid type A receptor beta3 subunit","omim_gene":["137192"],"alias_name":["GABA(A) receptor, beta 3"],"gene_symbol":"GABRB3","hgnc_symbol":"GABRB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:26788693-27184686","ensembl_id":"ENSG00000166206"}},"GRch38":{"90":{"location":"15:26543546-26939539","ensembl_id":"ENSG00000166206"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GABRB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["37647766"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 43 MIM#617113"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. 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If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNASE3L","Etohi2","HSA242976","RN3"],"biotype":"protein_coding","hgnc_id":"HGNC:17904","gene_name":"drosha ribonuclease III","omim_gene":["608828"],"alias_name":["drosha, ribonuclease type III","drosha, double-stranded RNA-specific endoribonuclease"],"gene_symbol":"DROSHA","hgnc_symbol":"DROSHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:31400604-31532303","ensembl_id":"ENSG00000113360"}},"GRch38":{"90":{"location":"5:31400497-31532196","ensembl_id":"ENSG00000113360"}}},"hgnc_date_symbol_changed":"2010-10-28"},"entity_type":"gene","entity_name":"DROSHA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39654947","35405010","29339534"],"evidence":["Literature","Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092","hereditary hemorrhagic telangiectasia MONDO:0019180","idiopathic spontaneous coronary artery dissection MONDO:0007385"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["non-coding gene"],"panel":{"id":260,"hash_id":null,"name":"Hereditary Haemorrhagic Telangiectasia","disease_group":"Vascular disorders","disease_sub_group":"","description":"This panel was developed for use in cases with a clinical diagnosis of hereditary haemorrhagic telangiectasia. 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