{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["BUP1"],"biotype":"protein_coding","hgnc_id":"HGNC:16297","gene_name":"beta-ureidopropionase 1","omim_gene":["606673"],"alias_name":null,"gene_symbol":"UPB1","hgnc_symbol":"UPB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24863206-24924358","ensembl_id":"ENSG00000100024"}},"GRch38":{"90":{"location":"22:24494107-24528390","ensembl_id":"ENSG00000100024"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"UPB1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism)","Beta-ureidopropionase deficiency 613161"],"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":["BUP1"],"biotype":"protein_coding","hgnc_id":"HGNC:16297","gene_name":"beta-ureidopropionase 1","omim_gene":["606673"],"alias_name":null,"gene_symbol":"UPB1","hgnc_symbol":"UPB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24863206-24924358","ensembl_id":"ENSG00000100024"}},"GRch38":{"90":{"location":"22:24494107-24528390","ensembl_id":"ENSG00000100024"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"UPB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Red"],"phenotypes":["Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism)","Beta-ureidopropionase deficiency 613161"],"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":["BUP1"],"biotype":"protein_coding","hgnc_id":"HGNC:16297","gene_name":"beta-ureidopropionase 1","omim_gene":["606673"],"alias_name":null,"gene_symbol":"UPB1","hgnc_symbol":"UPB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:24863206-24924358","ensembl_id":"ENSG00000100024"}},"GRch38":{"90":{"location":"22:24494107-24528390","ensembl_id":"ENSG00000100024"}}},"hgnc_date_symbol_changed":"2001-10-03"},"entity_type":"gene","entity_name":"UPB1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27553092","22525402","25638458","15385443","25445412"],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber","Radboud University Medical Center, Nijmegen"],"phenotypes":["Beta-ureidopropionase deficiency, 613161 (can include mental retardation, developmental delay)"],"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"}]}}]}
