{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["Actl6","BAF53A","Arp4","Baf53a","INO80K"],"biotype":"protein_coding","hgnc_id":"HGNC:24124","gene_name":"actin like 6A","omim_gene":["604958"],"alias_name":["BAF complex 53 kDa subunit","BRG1-associated factor","actin-related protein 4","INO80 complex subunit K"],"gene_symbol":"ACTL6A","hgnc_symbol":"ACTL6A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:179280668-179306196","ensembl_id":"ENSG00000136518"}},"GRch38":{"90":{"location":"3:179562880-179588408","ensembl_id":"ENSG00000136518"}}},"hgnc_date_symbol_changed":"2004-07-12"},"entity_type":"gene","entity_name":"ACTL6A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28649782"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["developmental delay","intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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"}]}}]}