{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MR60","ERGIC-53","ERGIC53","gp58","MCFD1","FMFD1"],"biotype":"protein_coding","hgnc_id":"HGNC:6631","gene_name":"lectin, mannose binding 1","omim_gene":["601567"],"alias_name":["endoplasmic reticulum-golgi intermediate compartment protein 53"],"gene_symbol":"LMAN1","hgnc_symbol":"LMAN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56995055-57027194","ensembl_id":"ENSG00000074695"}},"GRch38":{"90":{"location":"18:59327823-59359962","ensembl_id":"ENSG00000074695"}}},"hgnc_date_symbol_changed":"1996-06-06"},"entity_type":"gene","entity_name":"LMAN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10090934","10090935","16304051"],"evidence":["North West GLH","Yorkshire and North EastGLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["227300 Combined factor V and VIII deficiency","Combined factor V and VIII deficiency, 227300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":517,"hash_id":null,"name":"Combined factor V and VIII deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T13:51:09.675938Z","relevant_disorders":["R124"],"stats":{"number_of_genes":2,"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)"},{"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."}]}},{"gene_data":{"alias":["MR60","ERGIC-53","ERGIC53","gp58","MCFD1","FMFD1"],"biotype":"protein_coding","hgnc_id":"HGNC:6631","gene_name":"lectin, mannose binding 1","omim_gene":["601567"],"alias_name":["endoplasmic reticulum-golgi intermediate compartment protein 53"],"gene_symbol":"LMAN1","hgnc_symbol":"LMAN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:56995055-57027194","ensembl_id":"ENSG00000074695"}},"GRch38":{"90":{"location":"18:59327823-59359962","ensembl_id":"ENSG00000074695"}}},"hgnc_date_symbol_changed":"1996-06-06"},"entity_type":"gene","entity_name":"LMAN1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Combined factor V and VIII 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":["MR60","ERGIC-53","ERGIC53","gp58","MCFD1","FMFD1"],"biotype":"protein_coding","hgnc_id":"HGNC:6631","gene_name":"lectin, mannose binding 1","omim_gene":["601567"],"alias_name":["endoplasmic reticulum-golgi intermediate compartment protein 53"],"gene_symbol":"LMAN1","hgnc_symbol":"LMAN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56995055-57027194","ensembl_id":"ENSG00000074695"}},"GRch38":{"90":{"location":"18:59327823-59359962","ensembl_id":"ENSG00000074695"}}},"hgnc_date_symbol_changed":"1996-06-06"},"entity_type":"gene","entity_name":"LMAN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10090934","10090935","16304051"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["227300 Combined factor V and VIII deficiency"],"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)"}]}}]}