{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ADTD"],"biotype":"protein_coding","hgnc_id":"HGNC:568","gene_name":"adaptor related protein complex 3 delta 1 subunit","omim_gene":["607246"],"alias_name":null,"gene_symbol":"AP3D1","hgnc_symbol":"AP3D1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:2100988-2164464","ensembl_id":"ENSG00000065000"}},"GRch38":{"90":{"location":"19:2100988-2164465","ensembl_id":"ENSG00000065000"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3D1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26744459","27900855"],"evidence":["Expert Review Green","Literature"],"phenotypes":["?Hermansky-Pudlak syndrome 10","Platelet disorder","Hermansky-Pudlak syndrome and MR"],"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":["ADTD"],"biotype":"protein_coding","hgnc_id":"HGNC:568","gene_name":"adaptor related protein complex 3 delta 1 subunit","omim_gene":["607246"],"alias_name":null,"gene_symbol":"AP3D1","hgnc_symbol":"AP3D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2100988-2164464","ensembl_id":"ENSG00000065000"}},"GRch38":{"90":{"location":"19:2100988-2164465","ensembl_id":"ENSG00000065000"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3D1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["?Hermansky-Pudlak syndrome 10 617050 AR"],"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":["ADTD"],"biotype":"protein_coding","hgnc_id":"HGNC:568","gene_name":"adaptor related protein complex 3 delta 1 subunit","omim_gene":["607246"],"alias_name":null,"gene_symbol":"AP3D1","hgnc_symbol":"AP3D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2100988-2164464","ensembl_id":"ENSG00000065000"}},"GRch38":{"90":{"location":"19:2100988-2164465","ensembl_id":"ENSG00000065000"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3D1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26744459"],"evidence":["IUIS Classification February 2018","Expert Review Red","Literature"],"phenotypes":["?Hermansky-Pudlak syndrome 10, 617050","HSP10","Immunodeficient HPS","Hermansky-Pudlak syndrome with neutropenia","Hermansky-Pudlak syndrome","albinism","neutropenia","neuordevelopmental delay","seizures","Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay","Diseases of Immune Dysregulation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"number_of_regions":2},"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":["ADTD"],"biotype":"protein_coding","hgnc_id":"HGNC:568","gene_name":"adaptor related protein complex 3 delta 1 subunit","omim_gene":["607246"],"alias_name":null,"gene_symbol":"AP3D1","hgnc_symbol":"AP3D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2100988-2164464","ensembl_id":"ENSG00000065000"}},"GRch38":{"90":{"location":"19:2100988-2164465","ensembl_id":"ENSG00000065000"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3D1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28936583","26744459"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["617050 ?Hermansky-Pudlak syndrome 10"],"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":["ADTD"],"biotype":"protein_coding","hgnc_id":"HGNC:568","gene_name":"adaptor related protein complex 3 delta 1 subunit","omim_gene":["607246"],"alias_name":null,"gene_symbol":"AP3D1","hgnc_symbol":"AP3D1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:2100988-2164464","ensembl_id":"ENSG00000065000"}},"GRch38":{"90":{"location":"19:2100988-2164465","ensembl_id":"ENSG00000065000"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3D1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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."},{"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)"}]}}]}
