{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MDR2","PFIC-3","GBD1"],"biotype":"protein_coding","hgnc_id":"HGNC:45","gene_name":"ATP binding cassette subfamily B member 4","omim_gene":["171060"],"alias_name":null,"gene_symbol":"ABCB4","hgnc_symbol":"ABCB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:87031013-87109751","ensembl_id":"ENSG00000005471"}},"GRch38":{"90":{"location":"7:87401697-87480435","ensembl_id":"ENSG00000005471"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ABCB4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Neonatal and Adult Cholestasis","Cholestasis, intrahepatic, of pregnancy, 3, 614972","Cholestasis, progressive familial intrahepatic 3, 602347","Cholestasis, Progressive Familial Intrahepatic 3","Familial Intrahepatic Cholestasis","Progressive Familial Intrahepatic Cholestasis","cholelithiasis","gallstones","modifier in other forms of genetic cholestasis","PFIC","PFIC3"],"mode_of_inheritance":"BOTH monoallelic and 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":["MDR2","PFIC-3","GBD1"],"biotype":"protein_coding","hgnc_id":"HGNC:45","gene_name":"ATP binding cassette subfamily B member 4","omim_gene":["171060"],"alias_name":null,"gene_symbol":"ABCB4","hgnc_symbol":"ABCB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:87031013-87109751","ensembl_id":"ENSG00000005471"}},"GRch38":{"90":{"location":"7:87401697-87480435","ensembl_id":"ENSG00000005471"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ABCB4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - 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