{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SNF2LB","NURF140","ISWI","SWI","hSNF2L"],"biotype":"protein_coding","hgnc_id":"HGNC:11097","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1","omim_gene":["300012"],"alias_name":null,"gene_symbol":"SMARCA1","hgnc_symbol":"SMARCA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:128580480-128657477","ensembl_id":"ENSG00000102038"}},"GRch38":{"90":{"location":"X:129446501-129523500","ensembl_id":"ENSG00000102038"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"SMARCA1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26539891","26740508"],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Coffin-Siris Syndrome","ORPHA1465"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":64,"hash_id":"58ee38f88f62033bda307d54","name":"ClinGen Gene Validity Curations","disease_group":"","disease_sub_group":"","status":"public","version":"0.64","version_created":"2019-06-20T15:10:34.572009Z","relevant_disorders":[],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["SNF2LB","NURF140","ISWI","SWI","hSNF2L"],"biotype":"protein_coding","hgnc_id":"HGNC:11097","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1","omim_gene":["300012"],"alias_name":null,"gene_symbol":"SMARCA1","hgnc_symbol":"SMARCA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:128580480-128657477","ensembl_id":"ENSG00000102038"}},"GRch38":{"90":{"location":"X:129446501-129523500","ensembl_id":"ENSG00000102038"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"SMARCA1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26539891","26740508"],"evidence":["Expert Review Red","Other"],"phenotypes":["Coffin-Siris Syndrome","ORPHA1465"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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"}]}}]}