{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["BLOC2S2","AIBP63","RU2"],"biotype":"protein_coding","hgnc_id":"HGNC:17022","gene_name":"HPS5, biogenesis of lysosomal organelles complex 2 subunit 2","omim_gene":["607521"],"alias_name":["alpha-integrin-binding protein 63","Ruby-eye protein 2 homolog"],"gene_symbol":"HPS5","hgnc_symbol":"HPS5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:18300223-18343745","ensembl_id":"ENSG00000110756"}},"GRch38":{"90":{"location":"11:18278668-18322198","ensembl_id":"ENSG00000110756"}}},"hgnc_date_symbol_changed":"2002-06-13"},"entity_type":"gene","entity_name":"HPS5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12548288","18182080","26785811","27593200","28296950"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Hermansky-Pudlak syndrome 5"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":128,"hash_id":"5763f1118f620350a22bccda","name":"Ocular and oculo-cutaneous albinism","disease_group":"","disease_sub_group":"","status":"public","version":"1.21","version_created":"2019-06-20T15:13:41.618714Z","relevant_disorders":[],"stats":{"number_of_genes":15,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["BLOC2S2","AIBP63","RU2"],"biotype":"protein_coding","hgnc_id":"HGNC:17022","gene_name":"HPS5, biogenesis of lysosomal organelles complex 2 subunit 2","omim_gene":["607521"],"alias_name":["alpha-integrin-binding protein 63","Ruby-eye protein 2 homolog"],"gene_symbol":"HPS5","hgnc_symbol":"HPS5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:18300223-18343745","ensembl_id":"ENSG00000110756"}},"GRch38":{"90":{"location":"11:18278668-18322198","ensembl_id":"ENSG00000110756"}}},"hgnc_date_symbol_changed":"2002-06-13"},"entity_type":"gene","entity_name":"HPS5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12548288"],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["Hermansky-Pudlak syndrome 5   614074"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":200,"hash_id":"563259de22c1fc58285b2840","name":"Familial pulmonary fibrosis","disease_group":"Respiratory disorders","disease_sub_group":"Interstitial lung disorders","status":"public","version":"1.6","version_created":"2019-08-20T14:18:14.336659Z","relevant_disorders":[],"stats":{"number_of_genes":71,"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 Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["BLOC2S2","AIBP63","RU2"],"biotype":"protein_coding","hgnc_id":"HGNC:17022","gene_name":"HPS5, biogenesis of lysosomal organelles complex 2 subunit 2","omim_gene":["607521"],"alias_name":["alpha-integrin-binding protein 63","Ruby-eye protein 2 homolog"],"gene_symbol":"HPS5","hgnc_symbol":"HPS5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:18300223-18343745","ensembl_id":"ENSG00000110756"}},"GRch38":{"90":{"location":"11:18278668-18322198","ensembl_id":"ENSG00000110756"}}},"hgnc_date_symbol_changed":"2002-06-13"},"entity_type":"gene","entity_name":"HPS5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Hermansky-Pudlak 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":["BLOC2S2","AIBP63","RU2"],"biotype":"protein_coding","hgnc_id":"HGNC:17022","gene_name":"HPS5, biogenesis of lysosomal organelles complex 2 subunit 2","omim_gene":["607521"],"alias_name":["alpha-integrin-binding protein 63","Ruby-eye protein 2 homolog"],"gene_symbol":"HPS5","hgnc_symbol":"HPS5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:18300223-18343745","ensembl_id":"ENSG00000110756"}},"GRch38":{"90":{"location":"11:18278668-18322198","ensembl_id":"ENSG00000110756"}}},"hgnc_date_symbol_changed":"2002-06-13"},"entity_type":"gene","entity_name":"HPS5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18182080","28296950","12548288","27593200","26785811"],"evidence":["Expert Review Green"],"phenotypes":["Hermansky-Pudlak syndrome 5"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":511,"hash_id":null,"name":"Albinism or congenital nystagmus","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-08-05T09:16:46.441760Z","relevant_disorders":["R39"],"stats":{"number_of_genes":41,"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":["BLOC2S2","AIBP63","RU2"],"biotype":"protein_coding","hgnc_id":"HGNC:17022","gene_name":"HPS5, biogenesis of lysosomal organelles complex 2 subunit 2","omim_gene":["607521"],"alias_name":["alpha-integrin-binding protein 63","Ruby-eye protein 2 homolog"],"gene_symbol":"HPS5","hgnc_symbol":"HPS5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:18300223-18343745","ensembl_id":"ENSG00000110756"}},"GRch38":{"90":{"location":"11:18278668-18322198","ensembl_id":"ENSG00000110756"}}},"hgnc_date_symbol_changed":"2002-06-13"},"entity_type":"gene","entity_name":"HPS5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27514596","28296950","28640947"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["614074 Hermansky-Pudlak syndrome 5"],"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)"}]}}]}
