{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0540"],"biotype":"protein_coding","hgnc_id":"HGNC:31928","gene_name":"neurobeachin like 2","omim_gene":["614169"],"alias_name":null,"gene_symbol":"NBEAL2","hgnc_symbol":"NBEAL2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:47021173-47051193","ensembl_id":"ENSG00000160796"}},"GRch38":{"90":{"location":"3:46979683-47009703","ensembl_id":"ENSG00000160796"}}},"hgnc_date_symbol_changed":"2005-03-04"},"entity_type":"gene","entity_name":"NBEAL2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Gray platelet syndrome"],"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":["KIAA0540"],"biotype":"protein_coding","hgnc_id":"HGNC:31928","gene_name":"neurobeachin like 2","omim_gene":["614169"],"alias_name":null,"gene_symbol":"NBEAL2","hgnc_symbol":"NBEAL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47021173-47051193","ensembl_id":"ENSG00000160796"}},"GRch38":{"90":{"location":"3:46979683-47009703","ensembl_id":"ENSG00000160796"}}},"hgnc_date_symbol_changed":"2005-03-04"},"entity_type":"gene","entity_name":"NBEAL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21765412","27870194","21765411"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["139090, Gray platelet syndrome","139090 Gray platelet syndrome"],"mode_of_inheritance":"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)"}]}},{"gene_data":{"alias":["KIAA0540"],"biotype":"protein_coding","hgnc_id":"HGNC:31928","gene_name":"neurobeachin like 2","omim_gene":["614169"],"alias_name":null,"gene_symbol":"NBEAL2","hgnc_symbol":"NBEAL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47021173-47051193","ensembl_id":"ENSG00000160796"}},"GRch38":{"90":{"location":"3:46979683-47009703","ensembl_id":"ENSG00000160796"}}},"hgnc_date_symbol_changed":"2005-03-04"},"entity_type":"gene","entity_name":"NBEAL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20709904"],"evidence":["Expert Review Red","NHS GMS","London South GLH"],"phenotypes":["139090 Gray platelet syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":519,"hash_id":null,"name":"Cytopenia - NOT Fanconi anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"0.120","version_created":"2019-09-23T10:29:43.892929Z","relevant_disorders":["R91","R258"],"stats":{"number_of_genes":84,"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)"}]}}]}