{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24204302","26297882"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["young onset diabetes, short stature and microcephaly with intellectual disability","failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies"],"mode_of_inheritance":"BIALLELIC, 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":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25053765"],"evidence":["NHS GMS","Expert Review Red","Expert Review"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24204302","26297882"],"evidence":["NHS GMS","Expert Review Green","Expert Review"],"phenotypes":["young onset diabetes, short stature and microcephaly with intellectual disability","failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies"],"mode_of_inheritance":"BIALLELIC, 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":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26297882","24204302"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies","young onset diabetes, short stature and microcephaly with intellectual disability","Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability","Microcephaly, short stature, and impaired glucose metabolism 1, 616033"],"mode_of_inheritance":"BIALLELIC, 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":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24204302","25053765","26297882","26526202","26535115"],"evidence":["NHS GMS","Expert Review Green","Other"],"phenotypes":["Microcephaly, short stature, and impaired glucose metabolism 1","616033","MSSGM1","primary microcephaly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":"568f860222c1fc1c79ca1769","name":"Severe microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"DNA repair disorders","status":"public","version":"1.72","version_created":"2019-08-19T16:58:29.143286Z","relevant_disorders":["Primary Microcephaly - Microcephalic Dwarfism Spectrum","Severe microcephaly"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":5},"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":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Microcephaly, short stature and impaired glucose metabolism, 616033"],"mode_of_inheritance":"","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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"}]}},{"gene_data":{"alias":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Microcephaly, short stature and impaired glucose metabolism, 616033"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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","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":["MGC27034","TRM10"],"biotype":"protein_coding","hgnc_id":"HGNC:28403","gene_name":"tRNA methyltransferase 10A","omim_gene":["616013"],"alias_name":null,"gene_symbol":"TRMT10A","hgnc_symbol":"TRMT10A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:100467866-100485189","ensembl_id":"ENSG00000145331"}},"GRch38":{"90":{"location":"4:99546709-99564032","ensembl_id":"ENSG00000145331"}}},"hgnc_date_symbol_changed":"2012-06-28"},"entity_type":"gene","entity_name":"TRMT10A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26535115","26526202","24204302","25053765","26297882"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Expert Review Green","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Microcephaly, short stature, and impaired glucose metabolism 1, 616033","Young onset diabetes, short stature and microcephaly with intellectual disability"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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"}]}}]}
