{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ORF","XAP-3","VATPS1","16A","Ac45","XAP3","CF2"],"biotype":"protein_coding","hgnc_id":"HGNC:868","gene_name":"ATPase H+ transporting accessory protein 1","omim_gene":["300197"],"alias_name":null,"gene_symbol":"ATP6AP1","hgnc_symbol":"ATP6AP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:153656978-153664862","ensembl_id":"ENSG00000071553"}},"GRch38":{"90":{"location":"X:154428632-154436516","ensembl_id":"ENSG00000071553"}}},"hgnc_date_symbol_changed":"2003-08-29"},"entity_type":"gene","entity_name":"ATP6AP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27231034"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Literature"],"phenotypes":["Immunodeficiency 47\t300972"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":25,"hash_id":"58346b8b8f62036225ca8a7d","name":"Congenital disorders of glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.32","version_created":"2019-10-07T16:15:06.398101Z","relevant_disorders":["Congential disorders of glycosylation"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["ORF","XAP-3","VATPS1","16A","Ac45","XAP3","CF2"],"biotype":"protein_coding","hgnc_id":"HGNC:868","gene_name":"ATPase H+ transporting accessory protein 1","omim_gene":["300197"],"alias_name":null,"gene_symbol":"ATP6AP1","hgnc_symbol":"ATP6AP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153656978-153664862","ensembl_id":"ENSG00000071553"}},"GRch38":{"90":{"location":"X:154428632-154436516","ensembl_id":"ENSG00000071553"}}},"hgnc_date_symbol_changed":"2003-08-29"},"entity_type":"gene","entity_name":"ATP6AP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27231034"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","IUIS Classification February 2018"],"phenotypes":["Immunodeficiency 47, 300972","Hepatopathy, leukopenia, low copper","Predominantly Antibody Deficiencies","Immunodeficiency and hepatopathy with or without neurologic features"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["ORF","XAP-3","VATPS1","16A","Ac45","XAP3","CF2"],"biotype":"protein_coding","hgnc_id":"HGNC:868","gene_name":"ATPase H+ transporting accessory protein 1","omim_gene":["300197"],"alias_name":null,"gene_symbol":"ATP6AP1","hgnc_symbol":"ATP6AP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:153656978-153664862","ensembl_id":"ENSG00000071553"}},"GRch38":{"90":{"location":"X:154428632-154436516","ensembl_id":"ENSG00000071553"}}},"hgnc_date_symbol_changed":"2003-08-29"},"entity_type":"gene","entity_name":"ATP6AP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Immunodeficiency 47"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["ORF","XAP-3","VATPS1","16A","Ac45","XAP3","CF2"],"biotype":"protein_coding","hgnc_id":"HGNC:868","gene_name":"ATPase H+ transporting accessory protein 1","omim_gene":["300197"],"alias_name":null,"gene_symbol":"ATP6AP1","hgnc_symbol":"ATP6AP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153656978-153664862","ensembl_id":"ENSG00000071553"}},"GRch38":{"90":{"location":"X:154428632-154436516","ensembl_id":"ENSG00000071553"}}},"hgnc_date_symbol_changed":"2003-08-29"},"entity_type":"gene","entity_name":"ATP6AP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27231034"],"evidence":["Expert Review Green"],"phenotypes":["Immunodeficiency 47"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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"}]}}]}
