{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["p110D"],"biotype":"protein_coding","hgnc_id":"HGNC:8977","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","omim_gene":["602839"],"alias_name":["phosphatidylinositol 3-kinase, catalytic, delta polypeptide","phosphoinositide-3-kinase C"],"gene_symbol":"PIK3CD","hgnc_symbol":"PIK3CD","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:9711790-9789172","ensembl_id":"ENSG00000171608"}},"GRch38":{"90":{"location":"1:9651732-9729114","ensembl_id":"ENSG00000171608"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"PIK3CD","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":296,"hash_id":"553f94cabb5a1616e5ed45a2","name":"Non-CF bronchiectasis","disease_group":"Ciliopathies","disease_sub_group":"Respiratory ciliopathies","status":"public","version":"1.4","version_created":"2019-06-20T15:15:14.314794Z","relevant_disorders":[],"stats":{"number_of_genes":17,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["p110D"],"biotype":"protein_coding","hgnc_id":"HGNC:8977","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","omim_gene":["602839"],"alias_name":["phosphatidylinositol 3-kinase, catalytic, delta polypeptide","phosphoinositide-3-kinase C"],"gene_symbol":"PIK3CD","hgnc_symbol":"PIK3CD","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:9711790-9789172","ensembl_id":"ENSG00000171608"}},"GRch38":{"90":{"location":"1:9651732-9729114","ensembl_id":"ENSG00000171608"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"PIK3CD","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["16984281","24136356","24165795"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["PI3K activation syndrome","Immunodeficiency 14 615513"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["p110D"],"biotype":"protein_coding","hgnc_id":"HGNC:8977","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","omim_gene":["602839"],"alias_name":["phosphatidylinositol 3-kinase, catalytic, delta polypeptide","phosphoinositide-3-kinase C"],"gene_symbol":"PIK3CD","hgnc_symbol":"PIK3CD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:9711790-9789172","ensembl_id":"ENSG00000171608"}},"GRch38":{"90":{"location":"1:9651732-9729114","ensembl_id":"ENSG00000171608"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"PIK3CD","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Expert list"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["p110D"],"biotype":"protein_coding","hgnc_id":"HGNC:8977","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","omim_gene":["602839"],"alias_name":["phosphatidylinositol 3-kinase, catalytic, delta polypeptide","phosphoinositide-3-kinase C"],"gene_symbol":"PIK3CD","hgnc_symbol":"PIK3CD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:9711790-9789172","ensembl_id":"ENSG00000171608"}},"GRch38":{"90":{"location":"1:9651732-9729114","ensembl_id":"ENSG00000171608"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"PIK3CD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["24165795","24136356"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","ESID Registry 20171117","GRID V2.0","A- or hypo-gammaglobulinaemia v1.25"],"phenotypes":["Immunodeficiency 14,615513","Combined immunodeficiency","Unclassified antibody deficiency","Activated PI3K-delta syndrome (APDS)","sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia","Severe bacterial infections","decreased or absent pro-B cells, EBV","Predominantly Antibody Deficiencies"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["p110D"],"biotype":"protein_coding","hgnc_id":"HGNC:8977","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","omim_gene":["602839"],"alias_name":["phosphatidylinositol 3-kinase, catalytic, delta polypeptide","phosphoinositide-3-kinase C"],"gene_symbol":"PIK3CD","hgnc_symbol":"PIK3CD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:9711790-9789172","ensembl_id":"ENSG00000171608"}},"GRch38":{"90":{"location":"1:9651732-9729114","ensembl_id":"ENSG00000171608"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"PIK3CD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["29556229"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Immunodeficiency 14, 615513","Bronchiectasis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":550,"hash_id":null,"name":"Respiratory ciliopathies including non-CF bronchiectasis","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-27T18:48:31.875976Z","relevant_disorders":["R189"],"stats":{"number_of_genes":61,"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)"}]}}]}