{"count":19,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Neonatal and Adult Cholestasis","Arthrogryposis, renal dysfunction, and cholestasis 1, 208085","Arthrogryposis, Renal Dysfunction, and Cholestasis 1","Arthrogryposis, Renal Dysfunction, And Cholestasis 1","Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome","ARC syndrome","arthrogryposis-renal-cholestasis syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":385,"hash_id":null,"name":"Neonatal cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"Liver disease","status":"public","version":"1.4","version_created":"2019-06-20T15:13:26.764332Z","relevant_disorders":[],"stats":{"number_of_genes":90,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":["vacuolar myopathy?"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Other","NHS GMS"],"phenotypes":["arthrogryposis-renal-cholestasis syndrome","Arthrogryposis, renal dysfunction, and cholestasis 1, 208085","Arthrogryposis, Renal Dysfunction, and Cholestasis 1","Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome","ARC syndrome","Neonatal and Adult Cholestasis","Arthrogryposis, Renal Dysfunction, And Cholestasis 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":544,"hash_id":null,"name":"Cholestasis","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-04T09:18:18.981248Z","relevant_disorders":["R171"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Arthrogryposis, renal dysfunction, and cholestasis syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":556,"hash_id":null,"name":"Palmoplantar keratodermas","disease_group":"","disease_sub_group":"","status":"public","version":"0.9","version_created":"2019-09-09T15:38:38.871976Z","relevant_disorders":[],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":175,"hash_id":"5763f32a8f620350a22bccde","name":"Inherited bleeding disorders","disease_group":"Haematological and immunological disorders","disease_sub_group":"Haemostasis disorders","status":"public","version":"1.156","version_created":"2019-08-09T13:55:23.938344Z","relevant_disorders":["Inherited platelet disorders","Monogenic thrombophilia","Inherited bleeding and or platelet disorders","Unprovoked Thrombosis before 40","Monogenic venous thrombosis"],"stats":{"number_of_genes":119,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Arthrogryposis, renal dysfunction, and cholestasis 1 208085"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":156,"hash_id":"5693974122c1fc251660fb1f","name":"Unexplained kidney failure in young people","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.73","version_created":"2019-07-17T16:13:42.477129Z","relevant_disorders":["Familial IgA nephropathy and IgA vasculitis","End-stage renal disease - childhood onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 15052268","16896922"],"evidence":["Expert list","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Arthrogryposis, Renal Dysfunction, And Cholestasis 1","arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London South GLH","Expert Review Amber","Expert Review"],"phenotypes":["vacuolar myopathy","Arthrogryposis renal dysfunction, and cholestasis 1, 208085"],"mode_of_inheritance":"","tags":[],"panel":{"id":225,"hash_id":"553f94b6bb5a1616e5ed459a","name":"Congenital myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.166","version_created":"2019-10-09T12:41:32.789611Z","relevant_disorders":["R81"],"stats":{"number_of_genes":100,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","London South GLH"],"phenotypes":["Arthrogryposis renal dysfunction, and cholestasis 1, 208085"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":547,"hash_id":null,"name":"Neuromuscular arthrogryposis","disease_group":"","disease_sub_group":"","status":"public","version":"0.19","version_created":"2019-08-01T14:55:50.898576Z","relevant_disorders":[],"stats":{"number_of_genes":40,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15052268","16896922","22753090"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["208085 Arthrogryposis, renal dysfunction, and cholestasis 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":545,"hash_id":null,"name":"Bleeding and platelet disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.78","version_created":"2019-09-23T11:07:54.788299Z","relevant_disorders":["R90"],"stats":{"number_of_genes":111,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","UKGTN"],"phenotypes":["Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome","Arthrogryposis, renal dysfunction, and cholestasis 1, 208085","Arthrogryposis, renal dysfunction, and cholestasis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":234,"hash_id":"553f9696bb5a1616e5ed45d1","name":"CAKUT","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Structural renal and urinary tract disease","status":"public","version":"1.39","version_created":"2019-06-20T15:14:56.833108Z","relevant_disorders":["Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)"],"stats":{"number_of_genes":65,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Arthrogryposis, renal dysfunction, and cholestasis","Arthrogryposis, renal dysfunction, and cholestasis 1, 208085","Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome","Arthrogryposis, renal dysfunction, and cholestasis 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":493,"hash_id":null,"name":"Renal and urinary tract disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.18","version_created":"2019-07-04T13:55:26.963386Z","relevant_disorders":[],"stats":{"number_of_genes":177,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome","Arthrogryposis, renal dysfunction, and cholestasis 1","Arthrogryposis, renal dysfunction, and cholestasis 1, 208085","Arthrogryposis, renal dysfunction, and cholestasis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":678,"hash_id":null,"name":"Unexplained paediatric onset end-stage renal disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.43","version_created":"2019-09-25T12:25:36.245604Z","relevant_disorders":["R257"],"stats":{"number_of_genes":229,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["ARC Syndrome (Other metabolic disorders)","Arthrogryposis","CAKUT","Inherited bleeding disorders","Unexplained kidney failure in young people"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Amber"],"phenotypes":["Inherited bleeding disorders","Unexplained kidney failure in young people","CAKUT","ARC Syndrome (Other metabolic disorders)","Arthrogryposis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Arthrogryposis, renal dysfunction, and cholestasis 1, 208085"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FLJ14848"],"biotype":"protein_coding","hgnc_id":"HGNC:12712","gene_name":"VPS33B, late endosome and lysosome associated","omim_gene":["608552"],"alias_name":null,"gene_symbol":"VPS33B","hgnc_symbol":"VPS33B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91541646-91565833","ensembl_id":"ENSG00000184056"}},"GRch38":{"90":{"location":"15:90998416-91022603","ensembl_id":"ENSG00000184056"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"VPS33B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18853461"],"evidence":["NHS GMS"],"phenotypes":["Arthrogryposis, renal dysfunction, and cholestasis 1 #208085"],"mode_of_inheritance":"","tags":[],"panel":{"id":106,"hash_id":"55af787822c1fc78a829f89f","name":"Proteinuric renal disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Syndromes with prominent renal abnormalities","status":"public","version":"1.225","version_created":"2019-10-09T10:57:45.692187Z","relevant_disorders":["R195"],"stats":{"number_of_genes":95,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}}]}
