{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["16614371","29304564","16741293"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Emory Genetics Laboratory"],"phenotypes":["Sitosterolemia 210250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":385,"hash_id":null,"name":"Neonatal cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"Liver disease","status":"public","version":"1.4","version_created":"2019-06-20T15:13:26.764332Z","relevant_disorders":[],"stats":{"number_of_genes":90,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Hypercholesterolemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":6,"hash_id":"561518be22c1fc212900fb84","name":"Familial hypercholesterolaemia","disease_group":"Cardiovascular disorders","disease_sub_group":"Arteriopathies","status":"public","version":"1.26","version_created":"2019-10-07T15:50:14.542064Z","relevant_disorders":["Familial Hypercholesterolaemia","Familial Hypercholesterolemia"],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16029460","21576934","19846887","28696550","27291889"],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Platelet disorder","Sitosterolemia and Thrombocytopenia"],"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":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London South GLH","North West GLH","Yorkshire and North East GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["sitosterolaemia","210250 sitosterolaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":518,"hash_id":null,"name":"Rare anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T14:44:13.433190Z","relevant_disorders":["R92"],"stats":{"number_of_genes":94,"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":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30270055","24623560","27291889"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["210250 Sitosterolemia & Thrombocytopenia"],"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":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Sitosterolaemia (Inherited hypercholesterolaemias)","Familial hypercholesterolaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","London North GLH","NHS GMS"],"phenotypes":["Sitosterolaemia (Inherited hypercholesterolaemias)","Familial hypercholesterolaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"types":[{"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}