{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ46072"],"biotype":"protein_coding","hgnc_id":"HGNC:24797","gene_name":"family with sequence similarity 83 member H","omim_gene":["611927"],"alias_name":null,"gene_symbol":"FAM83H","hgnc_symbol":"FAM83H","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:144806103-144815971","ensembl_id":"ENSG00000180921"}},"GRch38":{"90":{"location":"8:143723933-143733801","ensembl_id":"ENSG00000180921"}}},"hgnc_date_symbol_changed":"2006-03-23"},"entity_type":"gene","entity_name":"FAM83H","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["20160442","19407157","18484629","21702852","19407157","22414746","18252228","21597265","19828885","19825039","19220331","26788537","21118793","26502894","26171361","26481691","26142250"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Amelogenesis imperfecta, type III, 130900","Amelogenesis Imperfecta, Type III, 130900","Hypocalcified AI"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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."}]}}]}