{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FKSG32"],"biotype":"protein_coding","hgnc_id":"HGNC:25461","gene_name":"pseudouridylate synthase 3","omim_gene":["616283"],"alias_name":null,"gene_symbol":"PUS3","hgnc_symbol":"PUS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:125763381-125773116","ensembl_id":"ENSG00000110060"}},"GRch38":{"90":{"location":"11:125893485-125903221","ensembl_id":"ENSG00000110060"}}},"hgnc_date_symbol_changed":"2004-08-23"},"entity_type":"gene","entity_name":"PUS3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["30697592","30308082","27055666"],"evidence":["Expert Review","Expert Review Green","Expert Review","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Global developmental delay","Microcephaly","Mental retardation, autosomal recessive 55, 617051","Intellectual disability"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}