{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MSH","POC","CLIP","ACTH","NPP","LPH"],"biotype":"protein_coding","hgnc_id":"HGNC:9201","gene_name":"proopiomelanocortin","omim_gene":["176830"],"alias_name":["adrenocorticotropin","beta-lipotropin","alpha-melanocyte stimulating hormone","beta-melanocyte stimulating hormone","beta-endorphin","adrenocorticotropic hormone","opiomelanocortin prepropeptide"],"gene_symbol":"POMC","hgnc_symbol":"POMC","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:25383722-25391772","ensembl_id":"ENSG00000115138"}},"GRch38":{"90":{"location":"2:25160853-25168903","ensembl_id":"ENSG00000115138"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"POMC","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":["{Obesity, early-onset, susceptibility to}, 601665","Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734","Congenital Obesity","{Obesity, early-onset, susceptibility to}, 601665"],"mode_of_inheritance":"BIALLELIC, 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":["MSH","POC","CLIP","ACTH","NPP","LPH"],"biotype":"protein_coding","hgnc_id":"HGNC:9201","gene_name":"proopiomelanocortin","omim_gene":["176830"],"alias_name":["adrenocorticotropin","beta-lipotropin","alpha-melanocyte stimulating hormone","beta-melanocyte stimulating hormone","beta-endorphin","adrenocorticotropic hormone","opiomelanocortin prepropeptide"],"gene_symbol":"POMC","hgnc_symbol":"POMC","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:25383722-25391772","ensembl_id":"ENSG00000115138"}},"GRch38":{"90":{"location":"2:25160853-25168903","ensembl_id":"ENSG00000115138"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"POMC","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734","{Obesity, early-onset, susceptibility to}, 601665"],"mode_of_inheritance":"","tags":[],"panel":{"id":145,"hash_id":"55bf785822c1fc0fe45530bf","name":"Congenital adrenal hypoplasia","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","status":"public","version":"2.0","version_created":"2019-07-31T14:08:52.172447Z","relevant_disorders":["R150"],"stats":{"number_of_genes":20,"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."}]}}]}
