{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FXR","RIP14","HRR1","HRR-1"],"biotype":"protein_coding","hgnc_id":"HGNC:7967","gene_name":"nuclear receptor subfamily 1 group H member 4","omim_gene":["603826"],"alias_name":["farnesoid X receptor"],"gene_symbol":"NR1H4","hgnc_symbol":"NR1H4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:100867486-100958191","ensembl_id":"ENSG00000012504"}},"GRch38":{"90":{"location":"12:100473708-100564413","ensembl_id":"ENSG00000012504"}}},"hgnc_date_symbol_changed":"1999-09-17"},"entity_type":"gene","entity_name":"NR1H4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Neonatal and Adult Cholestasis","Cholestasis, progressive familial intrahepatic 5, 617049","Cholestasis, Progressive Familial Intrahepatic 5","modifier of other genetic cholestatic conditions","ciliopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":385,"hash_id":null,"name":"Neonatal cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"Liver disease","status":"public","version":"1.4","version_created":"2019-06-20T15:13:26.764332Z","relevant_disorders":[],"stats":{"number_of_genes":90,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FXR","RIP14","HRR1","HRR-1"],"biotype":"protein_coding","hgnc_id":"HGNC:7967","gene_name":"nuclear receptor subfamily 1 group H member 4","omim_gene":["603826"],"alias_name":["farnesoid X receptor"],"gene_symbol":"NR1H4","hgnc_symbol":"NR1H4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:100867486-100958191","ensembl_id":"ENSG00000012504"}},"GRch38":{"90":{"location":"12:100473708-100564413","ensembl_id":"ENSG00000012504"}}},"hgnc_date_symbol_changed":"1999-09-17"},"entity_type":"gene","entity_name":"NR1H4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Other","NHS GMS"],"phenotypes":["ciliopathy","Cholestasis, Progressive Familial Intrahepatic 5","modifier of other genetic cholestatic conditions","Neonatal and Adult Cholestasis","Cholestasis, progressive familial intrahepatic 5, 617049"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":544,"hash_id":null,"name":"Cholestasis","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-04T09:18:18.981248Z","relevant_disorders":["R171"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"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."}]}}]}
