{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3344","gene_name":"enamelin","omim_gene":["606585"],"alias_name":null,"gene_symbol":"ENAM","hgnc_symbol":"ENAM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:71494461-71552533","ensembl_id":"ENSG00000132464"}},"GRch38":{"90":{"location":"4:70628744-70686816","ensembl_id":"ENSG00000132464"}}},"hgnc_date_symbol_changed":"1999-05-17"},"entity_type":"gene","entity_name":"ENAM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22029166","22540999","11978766","15723871","25143514","11487571","21597265","17316551","12407086","20439930","16246937","14684688","19329462","25769099","26502894","28334996"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Amelogenesis imperfecta, type IB, 104500","Amelogenesis imperfecta, type IC, 204650","Amelogenesis Imperfecta, Dominant","autosomal recessive amelogenesis imperfecta"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"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."}]}}]}