{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["LOC391356"],"biotype":"protein_coding","hgnc_id":"HGNC:33782","gene_name":"peptidyl-tRNA hydrolase domain containing 1","omim_gene":["617342"],"alias_name":null,"gene_symbol":"PTRHD1","hgnc_symbol":"PTRHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:25012603-25016251","ensembl_id":"ENSG00000184924"}},"GRch38":{"90":{"location":"2:24789734-24793382","ensembl_id":"ENSG00000184924"}}},"hgnc_date_symbol_changed":"2011-05-09"},"entity_type":"gene","entity_name":"PTRHD1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["30398675","27134041","27753167","29143421"],"evidence":["Expert Review Amber","Expert Review","Expert Review Amber","Expert Review","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Intellectual disability","Parkinsonism, Intellectual disability","Parkinsonism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"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"}]}}]}
