{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GN-2"],"biotype":"protein_coding","hgnc_id":"HGNC:4700","gene_name":"glycogenin 2","omim_gene":["300198"],"alias_name":["glycogenin glucosyltransferase"],"gene_symbol":"GYG2","hgnc_symbol":"GYG2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:2746829-2800859","ensembl_id":"ENSG00000056998"}},"GRch38":{"90":{"location":"X:2828788-2882820","ensembl_id":"ENSG00000056998"}}},"hgnc_date_symbol_changed":"1999-01-12"},"entity_type":"gene","entity_name":"GYG2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 25751106 - investigated patients with a GYG2 gene deletion and conclude that GN2 (encoded by GYG2) is not required for liver glycogen synthesis and glucagon-stimulated glucose release. PMID: 24100632 - candidate variants in the GYG2 gene found in male siblings with Leigh syndrome showing ketoemia, with some functional evidence."],"evidence":["Expert Review Red","UKGTN"],"phenotypes":["Glycogen Storage Disease"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":248,"hash_id":"5554c896bb5a161bf644a3cf","name":"Ketotic hypoglycaemia","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.2","version_created":"2017-11-05T02:37:20.297525Z","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}}]}