{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HNF1","LFB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11621","gene_name":"HNF1 homeobox A","omim_gene":["142410"],"alias_name":null,"gene_symbol":"HNF1A","hgnc_symbol":"HNF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:121416346-121440315","ensembl_id":"ENSG00000135100"}},"GRch38":{"90":{"location":"12:120978543-121002512","ensembl_id":"ENSG00000135100"}}},"hgnc_date_symbol_changed":"2007-08-24"},"entity_type":"gene","entity_name":"HNF1A","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["MODY, type III, 600496","{Diabetes mellitus, noninsulin-dependent, 2}, 125853","{Diabetes mellitus, insulin-dependent}, 222100","Hepatic adenoma, somatic, 142330","Renal cell carcinoma, 144700","Diabetes mellitus, insulin-dependent, 20, 612520","Maturity Onset Diabetes of the Young","Maturity Onset Diabetes of the Young (MODY)","Monogenic Diabetes","Maturity-Onset Diabetes Of The Young"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":87,"hash_id":"55d1e3f522c1fc237fbd46e9","name":"Multi-organ autoimmune diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.7","version_created":"2017-11-05T02:37:20.000817Z","relevant_disorders":[],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HNF1","LFB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11621","gene_name":"HNF1 homeobox A","omim_gene":["142410"],"alias_name":null,"gene_symbol":"HNF1A","hgnc_symbol":"HNF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:121416346-121440315","ensembl_id":"ENSG00000135100"}},"GRch38":{"90":{"location":"12:120978543-121002512","ensembl_id":"ENSG00000135100"}}},"hgnc_date_symbol_changed":"2007-08-24"},"entity_type":"gene","entity_name":"HNF1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["MODY, type III, 600496","{Diabetes mellitus, noninsulin-dependent, 2}, 125853","{Diabetes mellitus, insulin-dependent}, 222100","Hepatic adenoma, somatic, 142330","Renal cell carcinoma, 144700","Diabetes mellitus, insulin-dependent, 20, 612520","Maturity Onset Diabetes of the Young","Maturity-onset diabetes of the young (MODY)","Maturity-Onset Diabetes Of The Young","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3","MODY3"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":26,"hash_id":"55a9238422c1fc6711b0c6c3","name":"Diabetes with additional phenotypes suggestive of a monogenic aetiology","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.59","version_created":"2019-06-20T15:15:00.936648Z","relevant_disorders":[],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HNF1","LFB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11621","gene_name":"HNF1 homeobox A","omim_gene":["142410"],"alias_name":null,"gene_symbol":"HNF1A","hgnc_symbol":"HNF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:121416346-121440315","ensembl_id":"ENSG00000135100"}},"GRch38":{"90":{"location":"12:120978543-121002512","ensembl_id":"ENSG00000135100"}}},"hgnc_date_symbol_changed":"2007-08-24"},"entity_type":"gene","entity_name":"HNF1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22802087"],"evidence":["NHS GMS","Expert Review Green","Expert Review"],"phenotypes":["Autosomal dominant Hyperinsulinism","MODY, type III, 600496"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":308,"hash_id":"553f9781bb5a1616e5ed45f4","name":"Congenital hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"2.0","version_created":"2019-07-31T13:49:21.556866Z","relevant_disorders":["Hyperinsulinism","R144"],"stats":{"number_of_genes":19,"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."}]}},{"gene_data":{"alias":["HNF1","LFB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11621","gene_name":"HNF1 homeobox A","omim_gene":["142410"],"alias_name":null,"gene_symbol":"HNF1A","hgnc_symbol":"HNF1A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:121416346-121440315","ensembl_id":"ENSG00000135100"}},"GRch38":{"90":{"location":"12:120978543-121002512","ensembl_id":"ENSG00000135100"}}},"hgnc_date_symbol_changed":"2007-08-24"},"entity_type":"gene","entity_name":"HNF1A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520","Maturity Onset Diabetes of the Young"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":152,"hash_id":"553f9745bb5a1616e5ed45e9","name":"Familial diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.38","version_created":"2019-06-20T15:15:02.453936Z","relevant_disorders":["Familial young-onset non-insulin-dependent diabetes"],"stats":{"number_of_genes":56,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HNF1","LFB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11621","gene_name":"HNF1 homeobox A","omim_gene":["142410"],"alias_name":null,"gene_symbol":"HNF1A","hgnc_symbol":"HNF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:121416346-121440315","ensembl_id":"ENSG00000135100"}},"GRch38":{"90":{"location":"12:120978543-121002512","ensembl_id":"ENSG00000135100"}}},"hgnc_date_symbol_changed":"2007-08-24"},"entity_type":"gene","entity_name":"HNF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Hepatic adenoma, somatic, 142330","Maturity-Onset Diabetes Of The Young","{Diabetes mellitus, insulin-dependent}, 222100","Renal cell carcinoma, 144700","MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520","Diabetes mellitus, insulin-dependent, 20, 612520","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3","MODY3","Maturity-onset diabetes of the young (MODY)","{Diabetes mellitus, noninsulin-dependent, 2}, 125853","MODY, type III, 600496","Maturity Onset Diabetes of the Young"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":472,"hash_id":null,"name":"Monogenic diabetes","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T13:20:07.800002Z","relevant_disorders":["R141"],"stats":{"number_of_genes":77,"number_of_strs":0,"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":"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":["HNF1","LFB1"],"biotype":"protein_coding","hgnc_id":"HGNC:11621","gene_name":"HNF1 homeobox A","omim_gene":["142410"],"alias_name":null,"gene_symbol":"HNF1A","hgnc_symbol":"HNF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:121416346-121440315","ensembl_id":"ENSG00000135100"}},"GRch38":{"90":{"location":"12:120978543-121002512","ensembl_id":"ENSG00000135100"}}},"hgnc_date_symbol_changed":"2007-08-24"},"entity_type":"gene","entity_name":"HNF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert review green","Literature"],"phenotypes":["MODY type III","Nephropathy of unknown origin","Diabetic nephropathy","MIM 600496"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":720,"hash_id":null,"name":"Groopman et al 2019 - Genes with diagnostic variants","disease_group":"","disease_sub_group":"","status":"public","version":"0.8","version_created":"2019-07-09T15:48:14.145108Z","relevant_disorders":[],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Submitted List","slug":"submitted-list","description":"Original list, ratings, comments submitted to PanelApp- generally used for the creation of reference GMS panels, these panels  should be internal only"}]}}]}
