{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ30542","SH2B"],"biotype":"protein_coding","hgnc_id":"HGNC:30417","gene_name":"SH2B adaptor protein 1","omim_gene":["608937"],"alias_name":["SH2-B homolog"],"gene_symbol":"SH2B1","hgnc_symbol":"SH2B1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:28857921-28885526","ensembl_id":"ENSG00000178188"}},"GRch38":{"90":{"location":"16:28846600-28874212","ensembl_id":"ENSG00000178188"}}},"hgnc_date_symbol_changed":"2006-07-04"},"entity_type":"gene","entity_name":"SH2B1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20808231","24971614","28663568","23160192"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["obesity","Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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 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."}]}}]}