{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:452","gene_name":"ameloblastin","omim_gene":["601259"],"alias_name":["enamel matrix protein"],"gene_symbol":"AMBN","hgnc_symbol":"AMBN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"4:71457973-71473005","ensembl_id":"ENSG00000178522"}},"GRch38":{"90":{"location":"4:70592256-70607288","ensembl_id":"ENSG00000178522"}}},"hgnc_date_symbol_changed":"1997-01-08"},"entity_type":"gene","entity_name":"AMBN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24858907","26502894"],"evidence":["Expert Review Green","Other","Radboud University Medical Center, Nijmegen"],"phenotypes":["Amelogenesis imperfecta, type IF, 616270"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cnv"],"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."}]}}]}
