{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:461","gene_name":"amelogenin, X-linked","omim_gene":["300391"],"alias_name":["amelogenesis imperfecta 1"],"gene_symbol":"AMELX","hgnc_symbol":"AMELX","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:11311533-11318881","ensembl_id":"ENSG00000125363"}},"GRch38":{"90":{"location":"X:11293413-11300761","ensembl_id":"ENSG00000125363"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"AMELX","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19610109","23251683","15111628","7782077","1916828","25117480","7599636","1483698","17189466","9188994","11922869","11839357","7599636","22243263","11201048","26502894","28130977","8406474"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Amelogenesis imperfecta, type 1E, 301200","Amelogenesis Imperfecta, Type IE, 301200","X-linked hypoplastic amelogenesis imperfecta","hypomaturation AI with variable hypoplastic foci","smooth hypoplastic AI"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":["deletions"],"panel":{"id":269,"hash_id":"58c7f3c78f620328d77ce70e","name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T13:55:51.137280Z","relevant_disorders":["Amelogenesis Imperfecta","R340"],"stats":{"number_of_genes":39,"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","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."}]}}]}