{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3247","gene_name":"enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase","omim_gene":["607037"],"alias_name":null,"gene_symbol":"EHHADH","hgnc_symbol":"EHHADH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:184908412-184999778","ensembl_id":"ENSG00000113790"}},"GRch38":{"90":{"location":"3:185190624-185281990","ensembl_id":"ENSG00000113790"}}},"hgnc_date_symbol_changed":"1993-06-25"},"entity_type":"gene","entity_name":"EHHADH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["?Fanconi renotubular syndrome 3 615605"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3247","gene_name":"enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase","omim_gene":["607037"],"alias_name":null,"gene_symbol":"EHHADH","hgnc_symbol":"EHHADH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:184908412-184999778","ensembl_id":"ENSG00000113790"}},"GRch38":{"90":{"location":"3:185190624-185281990","ensembl_id":"ENSG00000113790"}}},"hgnc_date_symbol_changed":"1993-06-25"},"entity_type":"gene","entity_name":"EHHADH","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["24401050","27160910"],"evidence":["Expert Review Amber","NHS GMS","Expert"],"phenotypes":["metabolic acidosis, glucosuria, phosphaturia, aminoaciduria, and proteinuria","?Fanconi renotubular syndrome 3, 605615"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":292,"hash_id":"553f94d5bb5a1616e5ed45a4","name":"Renal tubulopathies","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.193","version_created":"2019-10-09T09:34:39.432250Z","relevant_disorders":["Renal tubular acidosis","R198"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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)"}]}}]}