{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GCN2","KIAA1338"],"biotype":"protein_coding","hgnc_id":"HGNC:19687","gene_name":"eukaryotic translation initiation factor 2 alpha kinase 4","omim_gene":["609280"],"alias_name":null,"gene_symbol":"EIF2AK4","hgnc_symbol":"EIF2AK4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:40226347-40327797","ensembl_id":"ENSG00000128829"}},"GRch38":{"90":{"location":"15:39934146-40035591","ensembl_id":"ENSG00000128829"}}},"hgnc_date_symbol_changed":"2002-11-11"},"entity_type":"gene","entity_name":"EIF2AK4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25512148","25917481","24135949","24292273","27809840","26320113","26387786","27884767","27694411","28087361","28087362","28972005","29844075"],"evidence":["NHS GMS","Expert list","Expert Review Green","Literature"],"phenotypes":["Pulmonary venoocclusive disease 2, 234810","PVOD","pulmonary capillary hemangiomatosis","PCH","Heritable pulmonary arterial hypertension","HPAH","Pulmonary arterial hypertension","Idiopathic pulmonary arterial hypertension","IPAH"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":"58c7f8a78f62033482c42716","name":"Pulmonary arterial hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"Pulmonary heart disease","status":"public","version":"2.0","version_created":"2019-09-23T17:04:36.560383Z","relevant_disorders":["PAH","R188"],"stats":{"number_of_genes":18,"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","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."}]}}]}