{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["TAFI48","SL1"],"biotype":"protein_coding","hgnc_id":"HGNC:11532","gene_name":"TATA-box binding protein associated factor, RNA polymerase I subunit A","omim_gene":["604903"],"alias_name":null,"gene_symbol":"TAF1A","hgnc_symbol":"TAF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:222731244-222763275","ensembl_id":"ENSG00000143498"}},"GRch38":{"90":{"location":"1:222557902-222589933","ensembl_id":"ENSG00000143498"}}},"hgnc_date_symbol_changed":"1999-01-18"},"entity_type":"gene","entity_name":"TAF1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27878435"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital cataract and global developmental delay"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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 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."}]}}]}