{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["O-FUT","O-Fuc-T","KIAA0180","FUT12"],"biotype":"protein_coding","hgnc_id":"HGNC:14988","gene_name":"protein O-fucosyltransferase 1","omim_gene":["607491"],"alias_name":["peptide-O-fucosyltransferase","GDP-fucose protein O-fucosyltransferase 1"],"gene_symbol":"POFUT1","hgnc_symbol":"POFUT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:30795683-30826470","ensembl_id":"ENSG00000101346"}},"GRch38":{"90":{"location":"20:32207880-32238667","ensembl_id":"ENSG00000101346"}}},"hgnc_date_symbol_changed":"2001-10-29"},"entity_type":"gene","entity_name":"POFUT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Dowling-Degos disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"number_of_regions":1},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}