{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","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 II, 125851","Diabetes mellitus, noninsulin-dependent, late onset, 125853","Diabetes mellitus, gestational, 125851","Hyperinsulinemic hypoglycemia, familial, 3, 602485","Diabetes mellitus, permanent neonatal, 606176","Maturity Onset Diabetes of the Young","Permanent Neonatal Diabetes Mellitus","Transient Neonatal Diabetes, Recessive","Maturity Onset Diabetes of the Young (MODY)","Monogenic Diabetes","Maturity-Onset Diabetes Of The Young","Neonatal Diabetes"],"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":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","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 II, 125851","Diabetes mellitus, noninsulin-dependent, late onset, 125853","Diabetes mellitus, gestational, 125851","Hyperinsulinemic hypoglycemia, familial, 3, 602485","Diabetes mellitus, permanent neonatal, 606176","Maturity Onset Diabetes of the Young","Permanent Neonatal Diabetes Mellitus","Transient Neonatal Diabetes, Recessive","Maturity-onset diabetes of the young (MODY)","Maturity-Onset Diabetes Of The Young","Permanent neonatal diabetes","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2","MODY2"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","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":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Eligibility statement prior genetic testing","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["MODY, type II, 125851","Diabetes mellitus, noninsulin-dependent, late onset, 125853","Diabetes mellitus, gestational, 125851","Hyperinsulinemic hypoglycemia, familial, 3, 602485","Diabetes mellitus, permanent neonatal, 606176","Permanent Neonatal Diabetes Mellitus","Transient Neonatal Diabetes, Recessive","Permanent neonatal diabetes","Fasting hyperglycaemia, permanent neonatal diabetes"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":293,"hash_id":"55a9041e22c1fc6711b0c6c0","name":"Diabetes - neonatal onset","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"2.0","version_created":"2019-07-31T13:43:22.297175Z","relevant_disorders":["Neonatal diabetes (diagnosed less than 6 months)","Neonatal diabetes","Neonatal diabetes diagnosed <6 months","R143"],"stats":{"number_of_genes":33,"number_of_strs":0,"number_of_regions":1},"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":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["NHS GMS","Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Hyperinsulinism, Dominant","MODY, type II, 125851"],"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":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["Maturity-onset diabetes of the young (MODY)","Maturity Onset Diabetes of the Young","MODY, type II, 125851","Transient Neonatal Diabetes, Recessive","Permanent Neonatal Diabetes Mellitus (recessive)","Maturity Onset Diabetes of the Young (Dominant)"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","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":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Transient Neonatal Diabetes, Recessive","MODY2","Diabetes mellitus, permanent neonatal, 606176","Maturity-Onset Diabetes Of The Young","Hyperinsulinemic hypoglycemia, familial, 3, 602485","Diabetes mellitus, noninsulin-dependent, late onset, 125853","Permanent neonatal diabetes","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2","Permanent Neonatal Diabetes Mellitus (recessive)","Maturity-onset diabetes of the young (MODY)","Permanent Neonatal Diabetes Mellitus","Maturity Onset Diabetes of the Young (Dominant)","Diabetes mellitus, gestational, 125851","MODY, type II, 125851","Maturity Onset Diabetes of the Young","Neonatal diabetes","Fasting hyperglycaemia"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","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":["HK4"],"biotype":"protein_coding","hgnc_id":"HGNC:4195","gene_name":"glucokinase","omim_gene":["138079"],"alias_name":["hexokinase 4"],"gene_symbol":"GCK","hgnc_symbol":"GCK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:44183872-44237769","ensembl_id":"ENSG00000106633"}},"GRch38":{"90":{"location":"7:44144271-44198170","ensembl_id":"ENSG00000106633"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GCK","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"}]}}]}