{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10024875, 20301464"],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Pulmonary Fibrosis and Hermansky-Pudlak Syndrome","Hermansky-Pudlak syndrome 2, 608233","Pulmonary Disease","Pulmonary fibrosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":200,"hash_id":"563259de22c1fc58285b2840","name":"Familial pulmonary fibrosis","disease_group":"Respiratory disorders","disease_sub_group":"Interstitial lung disorders","status":"public","version":"1.6","version_created":"2019-08-20T14:18:14.336659Z","relevant_disorders":[],"stats":{"number_of_genes":71,"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 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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26927810","23557002","19679886","16537806","11590544"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hermansky-Pudlak syndrome 2"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder-effect"],"panel":{"id":222,"hash_id":"553f94b3bb5a1616e5ed4593","name":"Vici Syndrome and other autophagy disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Autophagy disorders","status":"public","version":"1.2","version_created":"2019-01-09T13:01:54.387365Z","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Hermansky-Pudlak syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"number_of_regions":1},"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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Hermansky-Pudlak syndrome"],"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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hermansky-Pudlak syndrome 2 608233 AR"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":511,"hash_id":null,"name":"Albinism or congenital nystagmus","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-08-05T09:16:46.441760Z","relevant_disorders":["R39"],"stats":{"number_of_genes":41,"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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10024875","14566336","8042664","11809908","16537806","19679886","23403622","16507770","28585318"],"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"],"phenotypes":["Hermansky-Pudlak syndrome 2","HPS2","Hermansky-Pudlak syndrome, 608233","Immunodeficient HPS","Hermansky-Pudlak syndrome with neutropenia","Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH","Diseases of Immune Dysregulation"],"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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":563,"hash_id":null,"name":"Vascular skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-09T15:38:44.120161Z","relevant_disorders":[],"stats":{"number_of_genes":34,"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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28585318","23403622","26684649"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["608233 Hermansky-Pudlak syndrome 2"],"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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE Additional Gene List"],"phenotypes":["Hermansky-Pudlak syndrome 2 608233"],"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":["ADTB3A","HPS2"],"biotype":"protein_coding","hgnc_id":"HGNC:566","gene_name":"adaptor related protein complex 3 beta 1 subunit","omim_gene":["603401"],"alias_name":null,"gene_symbol":"AP3B1","hgnc_symbol":"AP3B1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:77296349-77590579","ensembl_id":"ENSG00000132842"}},"GRch38":{"90":{"location":"5:78000525-78294755","ensembl_id":"ENSG00000132842"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16551969"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Expert Review Green","Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hermansky-Pudlak syndrome 2 608233"],"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"}]}}]}
