{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2570","gene_name":"cytochrome b5 type A","omim_gene":["613218"],"alias_name":null,"gene_symbol":"CYB5A","hgnc_symbol":"CYB5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:71920530-71959251","ensembl_id":"ENSG00000166347"}},"GRch38":{"90":{"location":"18:74250847-74292016","ensembl_id":"ENSG00000166347"}}},"hgnc_date_symbol_changed":"2006-01-30"},"entity_type":"gene","entity_name":"CYB5A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["8168836","20080843"],"evidence":["Expert Review Red","NHS GMS","London South GLH"],"phenotypes":["250790 Methemoglobinemia and ambiguous genitalia"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2570","gene_name":"cytochrome b5 type A","omim_gene":["613218"],"alias_name":null,"gene_symbol":"CYB5A","hgnc_symbol":"CYB5A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:71920530-71959251","ensembl_id":"ENSG00000166347"}},"GRch38":{"90":{"location":"18:74250847-74292016","ensembl_id":"ENSG00000166347"}}},"hgnc_date_symbol_changed":"2006-01-30"},"entity_type":"gene","entity_name":"CYB5A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22170710","8168836"],"evidence":["Expert Review Green","Other","Radboud University Medical Center, Nijmegen","Expert Review"],"phenotypes":["46,XY underandrogenization with biochemistry similar to isolated 17,20-lyase deficiency","Methemoglobinemia, type I, 250790"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":9,"hash_id":"569380ac22c1fc251660faf8","name":"Disorders of sex development","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","status":"public","version":"2.1","version_created":"2019-10-01T10:16:03.440399Z","relevant_disorders":["R146"],"stats":{"number_of_genes":54,"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."}]}}]}
