{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["3471198, 25528372"],"evidence":["Expert Review Green","Literature","Radboud University Medical Center, Nijmegen"],"phenotypes":["Sneddon syndrome  182410","Polyarteritis nodosa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":147,"hash_id":"5819a24f8f6203341de99c89","name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Cerebrovascular disorders","status":"public","version":"1.47","version_created":"2019-09-13T13:47:21.970257Z","relevant_disorders":["Cerebrovascular disorders","Vein of Galen malformation","Cerebral arteriovenous malformations","Moyamoya disease"],"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 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":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Polyarteritis nodosa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":565,"hash_id":null,"name":"Rare genetic inflammatory skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.14","version_created":"2019-09-09T15:38:40.627314Z","relevant_disorders":[],"stats":{"number_of_genes":60,"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":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24552284","24552285","26922074","29564582"],"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":["Polyarteritis nodosa","Polyarteritis nodosa, childhood-onset, 615688","ADA2 deficiency","Deficiency of ADA2 (DADA2)","Other autoinflammatory diseases with known genetic defect","Fever with early onset stroke","combined immunodeficiency","Evans' syndrome","Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever","Autoinflammatory Disorders"],"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":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["http://www.bloodjournal.org/content/130/Suppl_1/874","29681619","30503522"],"evidence":["Expert Review Green","Literature"],"phenotypes":["DBA","Diamond-Blackfan Anemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Diamond Blackfan anaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":518,"hash_id":null,"name":"Rare anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T14:44:13.433190Z","relevant_disorders":["R92"],"stats":{"number_of_genes":94,"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":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25075847","24552285","24552284"],"evidence":["Expert Review Green","London South GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Diamond Blackfan anaemia","615688 Polyarteritis nodosa/Sneddon sydrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":519,"hash_id":null,"name":"Cytopenia - NOT Fanconi anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"0.120","version_created":"2019-09-23T10:29:43.892929Z","relevant_disorders":["R91","R258"],"stats":{"number_of_genes":84,"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)"}]}}]}
