{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ARC41","p40-ARC","p41-ARC"],"biotype":"protein_coding","hgnc_id":"HGNC:704","gene_name":"actin related protein 2/3 complex subunit 1B","omim_gene":["604223"],"alias_name":["ARP2/3 protein complex subunit p41","actin related protein 2/3 complex, subunit 1A (41 kD)"],"gene_symbol":"ARPC1B","hgnc_symbol":"ARPC1B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:98971872-98992424","ensembl_id":"ENSG00000130429"}},"GRch38":{"90":{"location":"7:99374249-99394801","ensembl_id":"ENSG00000130429"}}},"hgnc_date_symbol_changed":"1999-08-06"},"entity_type":"gene","entity_name":"ARPC1B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27965109"],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Platelet disorder","Thrombocytopenia and Immune Deficiency"],"mode_of_inheritance":"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":["ARC41","p40-ARC","p41-ARC"],"biotype":"protein_coding","hgnc_id":"HGNC:704","gene_name":"actin related protein 2/3 complex subunit 1B","omim_gene":["604223"],"alias_name":["ARP2/3 protein complex subunit p41","actin related protein 2/3 complex, subunit 1A (41 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