{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CD42c","GPIbbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:4440","gene_name":"glycoprotein Ib platelet beta subunit","omim_gene":["138720"],"alias_name":["platelet glycoprotein Ib beta chain"],"gene_symbol":"GP1BB","hgnc_symbol":"GP1BB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:19710468-19712294","ensembl_id":"ENSG00000203618"}},"GRch38":{"90":{"location":"22:19722945-19724771","ensembl_id":"ENSG00000203618"}}},"hgnc_date_symbol_changed":"1991-11-21"},"entity_type":"gene","entity_name":"GP1BB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9116284","10887115","8703016","28064200"],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene","Other"],"phenotypes":["Bernard-Soulier syndrome, type B (BIALLELIC, autosomal or pseudoautosomal)","Giant platelet disorder, isolated (AR)","231200","Bernard-Soulier syndrome","Macrothrombocytopenia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)"],"mode_of_inheritance":"BOTH monoallelic and 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":["CD42c","GPIbbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:4440","gene_name":"glycoprotein Ib platelet beta subunit","omim_gene":["138720"],"alias_name":["platelet glycoprotein Ib beta chain"],"gene_symbol":"GP1BB","hgnc_symbol":"GP1BB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19710468-19712294","ensembl_id":"ENSG00000203618"}},"GRch38":{"90":{"location":"22:19722945-19724771","ensembl_id":"ENSG00000203618"}}},"hgnc_date_symbol_changed":"1991-11-21"},"entity_type":"gene","entity_name":"GP1BB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24934643","9616133","21357716"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["BSS","231200 BERNARD-SOULIER SYNDROME","231200BERNARD-SOULIER SYNDROME"],"mode_of_inheritance":"BOTH monoallelic and 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)"}]}}]}