{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DPP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2528","gene_name":"cathepsin C","omim_gene":["602365"],"alias_name":["dipeptidyl peptidase 1"],"gene_symbol":"CTSC","hgnc_symbol":"CTSC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:88026760-88070955","ensembl_id":"ENSG00000109861"}},"GRch38":{"90":{"location":"11:88293592-88337787","ensembl_id":"ENSG00000109861"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"CTSC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Papillon-Lefvre 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":["DPP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2528","gene_name":"cathepsin C","omim_gene":["602365"],"alias_name":["dipeptidyl peptidase 1"],"gene_symbol":"CTSC","hgnc_symbol":"CTSC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:88026760-88070955","ensembl_id":"ENSG00000109861"}},"GRch38":{"90":{"location":"11:88293592-88337787","ensembl_id":"ENSG00000109861"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"CTSC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10593994","10662807","11106356"],"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":["Papillon-Lefevre syndrome, 245000","Periodontitis, palmoplantar hyperkeratosis in some patients","Congenital defects of phagocyte number or function","Severe periodontitis","palmoplantar keratoderma","Haim-Munk syndrome, 245010"],"mode_of_inheritance":"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":["DPP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2528","gene_name":"cathepsin C","omim_gene":["602365"],"alias_name":["dipeptidyl peptidase 1"],"gene_symbol":"CTSC","hgnc_symbol":"CTSC","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:88026760-88070955","ensembl_id":"ENSG00000109861"}},"GRch38":{"90":{"location":"11:88293592-88337787","ensembl_id":"ENSG00000109861"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"CTSC","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15727652","26205983","24966751"],"evidence":["NHS GMS","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list",""],"phenotypes":["Haim-Munk syndrome 245010,","Haim-Munk syndrome 245010"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["DPP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2528","gene_name":"cathepsin C","omim_gene":["602365"],"alias_name":["dipeptidyl peptidase 1"],"gene_symbol":"CTSC","hgnc_symbol":"CTSC","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:88026760-88070955","ensembl_id":"ENSG00000109861"}},"GRch38":{"90":{"location":"11:88293592-88337787","ensembl_id":"ENSG00000109861"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"CTSC","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Haim-Munk syndrome 245010","Papillon-Lefevre syndrome 245000","Periodontitis 1, juvenile 170650"],"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":["DPP1"],"biotype":"protein_coding","hgnc_id":"HGNC:2528","gene_name":"cathepsin C","omim_gene":["602365"],"alias_name":["dipeptidyl peptidase 1"],"gene_symbol":"CTSC","hgnc_symbol":"CTSC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:88026760-88070955","ensembl_id":"ENSG00000109861"}},"GRch38":{"90":{"location":"11:88293592-88337787","ensembl_id":"ENSG00000109861"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"CTSC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","London North GLH","NHS GMS"],"phenotypes":["Haim-Munk syndrome 245010","Papillon-Lefevre syndrome 245000","Periodontitis 1, juvenile 170650"],"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"}]}}]}
