{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MGC45866","FLJ41618","Treslin","SLD3"],"biotype":"protein_coding","hgnc_id":"HGNC:28704","gene_name":"TOPBP1 interacting checkpoint and replication regulator","omim_gene":["613298"],"alias_name":["TOPBP1-interacting replication-stimulating protein","SLD3 homolog (S. cerevisiae)"],"gene_symbol":"TICRR","hgnc_symbol":"TICRR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:90118713-90174287","ensembl_id":"ENSG00000140534"}},"GRch38":{"90":{"location":"15:89575482-89631056","ensembl_id":"ENSG00000140534"}}},"hgnc_date_symbol_changed":"2012-07-11"},"entity_type":"gene","entity_name":"TICRR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review"],"phenotypes":["coronal craniosynostosis, cardiomyopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":168,"hash_id":"55b605f722c1fc05fd2345af","name":"Craniosynostosis","disease_group":"Skeletal disorders","disease_sub_group":"Craniosynostosis syndromes","status":"public","version":"2.0","version_created":"2019-09-17T13:00:09.542482Z","relevant_disorders":["Craniosynostosis syndromes","Craniosynostosis syndromes phenotypes","Rare syndromic craniosynostosis or isolated multisuture synostosis","R100"],"stats":{"number_of_genes":114,"number_of_strs":0,"number_of_regions":2},"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":"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."}]}}]}
