{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["TRA2.10","MGC26544","TLX"],"biotype":"protein_coding","hgnc_id":"HGNC:6953","gene_name":"CD46 molecule","omim_gene":["120920"],"alias_name":null,"gene_symbol":"CD46","hgnc_symbol":"CD46","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:207925402-207968858","ensembl_id":"ENSG00000117335"}},"GRch38":{"90":{"location":"1:207752057-207795513","ensembl_id":"ENSG00000117335"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"CD46","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24172683","22456601","14615110","21902819"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Haemolytic uraemic syndrome","aHUS","Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922","C3 glomerulopathy","C3G","Immune complex MPGN","IC-MPGN"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":83,"hash_id":"58c805938f6203413360f1cb","name":"Membranoproliferative glomerulonephritis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Syndromes with prominent renal abnormalities","status":"public","version":"2.1","version_created":"2019-10-09T07:08:35.885497Z","relevant_disorders":["PMG","MPGN","Primary Membranoproliferative Glomerulonephritis","Primary membranoproliferative glomerulonephritis","R197"],"stats":{"number_of_genes":9,"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":"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":["TRA2.10","MGC26544","TLX"],"biotype":"protein_coding","hgnc_id":"HGNC:6953","gene_name":"CD46 molecule","omim_gene":["120920"],"alias_name":null,"gene_symbol":"CD46","hgnc_symbol":"CD46","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:207925402-207968858","ensembl_id":"ENSG00000117335"}},"GRch38":{"90":{"location":"1:207752057-207795513","ensembl_id":"ENSG00000117335"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"CD46","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["14615110","14566051","16621965"],"evidence":["NHS GMS","Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":139,"hash_id":"563248da22c1fc58285b283a","name":"Atypical haemolytic uraemic syndrome","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Syndromes with prominent renal abnormalities","status":"public","version":"2.1","version_created":"2019-08-19T11:44:11.988896Z","relevant_disorders":["R201"],"stats":{"number_of_genes":13,"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":"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":["TRA2.10","MGC26544","TLX"],"biotype":"protein_coding","hgnc_id":"HGNC:6953","gene_name":"CD46 molecule","omim_gene":["120920"],"alias_name":null,"gene_symbol":"CD46","hgnc_symbol":"CD46","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:207925402-207968858","ensembl_id":"ENSG00000117335"}},"GRch38":{"90":{"location":"1:207752057-207795513","ensembl_id":"ENSG00000117335"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"CD46","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["14615110","14566051","16621965"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922","Membrane Cofactor Protein (CD46) deficiency","atypical HUS","Atypical hemolytic-uremic syndrome, infections, preeclampsia","Complement Deficiencies"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"number_of_regions":2},"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":["TRA2.10","MGC26544","TLX"],"biotype":"protein_coding","hgnc_id":"HGNC:6953","gene_name":"CD46 molecule","omim_gene":["120920"],"alias_name":null,"gene_symbol":"CD46","hgnc_symbol":"CD46","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:207925402-207968858","ensembl_id":"ENSG00000117335"}},"GRch38":{"90":{"location":"1:207752057-207795513","ensembl_id":"ENSG00000117335"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"CD46","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["14615110","14566051","16621965"],"evidence":["Expert Review Green","UKGTN","Expert Review","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922"],"mode_of_inheritance":"BOTH monoallelic and 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":["TRA2.10","MGC26544","TLX"],"biotype":"protein_coding","hgnc_id":"HGNC:6953","gene_name":"CD46 molecule","omim_gene":["120920"],"alias_name":null,"gene_symbol":"CD46","hgnc_symbol":"CD46","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:207925402-207968858","ensembl_id":"ENSG00000117335"}},"GRch38":{"90":{"location":"1:207752057-207795513","ensembl_id":"ENSG00000117335"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"CD46","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16621965","14566051","14615110"],"evidence":["Expert Review Green"],"phenotypes":["Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922"],"mode_of_inheritance":"BOTH monoallelic and 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":["TRA2.10","MGC26544","TLX"],"biotype":"protein_coding","hgnc_id":"HGNC:6953","gene_name":"CD46 molecule","omim_gene":["120920"],"alias_name":null,"gene_symbol":"CD46","hgnc_symbol":"CD46","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:207925402-207968858","ensembl_id":"ENSG00000117335"}},"GRch38":{"90":{"location":"1:207752057-207795513","ensembl_id":"ENSG00000117335"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"CD46","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14566051","16621965","14615110"],"evidence":["Expert Review Green"],"phenotypes":["Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922"],"mode_of_inheritance":"BOTH monoallelic and 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)"}]}}]}
