{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6932","gene_name":"melanocortin 4 receptor","omim_gene":["155541"],"alias_name":null,"gene_symbol":"MC4R","hgnc_symbol":"MC4R","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:58038564-58040001","ensembl_id":"ENSG00000166603"}},"GRch38":{"90":{"location":"18:60371110-60372775","ensembl_id":"ENSG00000166603"}}},"hgnc_date_symbol_changed":"1993-07-27"},"entity_type":"gene","entity_name":"MC4R","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Congenital Obesity","Obesity (BMIQ20), 618406","{Obesity, resistence to (BMIQ20)}, 618306","Obesity, autosomal dominant, 601665"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":"55d2fc2d22c1fc2cc6635960","name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"Obesity syndromes","status":"public","version":"2.0","version_created":"2019-09-23T12:02:23.516332Z","relevant_disorders":["Significant early-onset obesity with or without other endocrine features and short stature","Significant early-onset obesity +/- other endocrine features and short stature","R149"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":3},"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."},{"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)"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6932","gene_name":"melanocortin 4 receptor","omim_gene":["155541"],"alias_name":null,"gene_symbol":"MC4R","hgnc_symbol":"MC4R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:58038564-58040001","ensembl_id":"ENSG00000166603"}},"GRch38":{"90":{"location":"18:60371110-60372775","ensembl_id":"ENSG00000166603"}}},"hgnc_date_symbol_changed":"1993-07-27"},"entity_type":"gene","entity_name":"MC4R","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert review red","Literature"],"phenotypes":["Obesity autosomal dominant","Nephropathy of unknown origin","MIM 601665"],"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"}]}}]}
