{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MOP2","PASD2","HIF2A","HLF","bHLHe73"],"biotype":"protein_coding","hgnc_id":"HGNC:3374","gene_name":"endothelial PAS domain protein 1","omim_gene":["603349"],"alias_name":["HIF-1 alpha-like factor"],"gene_symbol":"EPAS1","hgnc_symbol":"EPAS1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:46520806-46613836","ensembl_id":"ENSG00000116016"}},"GRch38":{"90":{"location":"2:46293667-46386703","ensembl_id":"ENSG00000116016"}}},"hgnc_date_symbol_changed":"1998-05-29"},"entity_type":"gene","entity_name":"EPAS1","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":["27651169","27774468","22367913","18650473","18184961","18378852"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Other"],"phenotypes":["Familial Erythrocytosis, 611783","Erythrocystosis","Pulmonary arterial hypertension","paraganglioma"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":157,"hash_id":"58c7fba38f6203345887d4f5","name":"Hereditary Erythrocytosis","disease_group":"","disease_sub_group":"","status":"public","version":"1.1","version_created":"2017-11-05T02:37:20.137591Z","relevant_disorders":[],"stats":{"number_of_genes":13,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}}]}