{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FATP5","VLACSR","VLCS-H2","VLCSH2","FACVL3","FLJ22987","ACSVL6","ACSB"],"biotype":"protein_coding","hgnc_id":"HGNC:10999","gene_name":"solute carrier family 27 member 5","omim_gene":["603314"],"alias_name":["fatty-acid-Coenzyme A ligase, very long-chain 3"],"gene_symbol":"SLC27A5","hgnc_symbol":"SLC27A5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:58990879-59023780","ensembl_id":"ENSG00000083807"}},"GRch38":{"90":{"location":"19:58479512-58512413","ensembl_id":"ENSG00000083807"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Literature"],"phenotypes":["choleostatic jaundice and hepatomegaly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":248,"hash_id":"5554c896bb5a161bf644a3cf","name":"Ketotic hypoglycaemia","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.2","version_created":"2017-11-05T02:37:20.297525Z","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FATP5","VLACSR","VLCS-H2","VLCSH2","FACVL3","FLJ22987","ACSVL6","ACSB"],"biotype":"protein_coding","hgnc_id":"HGNC:10999","gene_name":"solute carrier family 27 member 5","omim_gene":["603314"],"alias_name":["fatty-acid-Coenzyme A ligase, very long-chain 3"],"gene_symbol":"SLC27A5","hgnc_symbol":"SLC27A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:58990879-59023780","ensembl_id":"ENSG00000083807"}},"GRch38":{"90":{"location":"19:58479512-58512413","ensembl_id":"ENSG00000083807"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23415802","22089923"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Emory Genetics Laboratory"],"phenotypes":["Neonatal and Adult Cholestasis"],"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":["FATP5","VLACSR","VLCS-H2","VLCSH2","FACVL3","FLJ22987","ACSVL6","ACSB"],"biotype":"protein_coding","hgnc_id":"HGNC:10999","gene_name":"solute carrier family 27 member 5","omim_gene":["603314"],"alias_name":["fatty-acid-Coenzyme A ligase, very long-chain 3"],"gene_symbol":"SLC27A5","hgnc_symbol":"SLC27A5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:58990879-59023780","ensembl_id":"ENSG00000083807"}},"GRch38":{"90":{"location":"19:58479512-58512413","ensembl_id":"ENSG00000083807"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FATP5","VLACSR","VLCS-H2","VLCSH2","FACVL3","FLJ22987","ACSVL6","ACSB"],"biotype":"protein_coding","hgnc_id":"HGNC:10999","gene_name":"solute carrier family 27 member 5","omim_gene":["603314"],"alias_name":["fatty-acid-Coenzyme A ligase, very long-chain 3"],"gene_symbol":"SLC27A5","hgnc_symbol":"SLC27A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:58990879-59023780","ensembl_id":"ENSG00000083807"}},"GRch38":{"90":{"location":"19:58479512-58512413","ensembl_id":"ENSG00000083807"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Red"],"phenotypes":["Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"types":[{"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"}]}}]}
