{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["XT3","Xtrp3"],"biotype":"protein_coding","hgnc_id":"HGNC:30927","gene_name":"solute carrier family 6 member 20","omim_gene":["605616"],"alias_name":null,"gene_symbol":"SLC6A20","hgnc_symbol":"SLC6A20","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:45796942-45838027","ensembl_id":"ENSG00000163817"}},"GRch38":{"90":{"location":"3:45755450-45796535","ensembl_id":"ENSG00000163817"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A20","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28543993","26049783"],"evidence":["Expert Review Red","Literature"],"phenotypes":["risk of HSCR"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":63,"hash_id":"58c7f5008f620328d77ce70f","name":"Familial Hirschsprung Disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.6","version_created":"2019-06-20T15:11:10.292595Z","relevant_disorders":[],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["XT3","Xtrp3"],"biotype":"protein_coding","hgnc_id":"HGNC:30927","gene_name":"solute carrier family 6 member 20","omim_gene":["605616"],"alias_name":null,"gene_symbol":"SLC6A20","hgnc_symbol":"SLC6A20","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:45796942-45838027","ensembl_id":"ENSG00000163817"}},"GRch38":{"90":{"location":"3:45755450-45796535","ensembl_id":"ENSG00000163817"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A20","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":"553f94d5bb5a1616e5ed45a5","name":"Nephrocalcinosis or nephrolithiasis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.18","version_created":"2019-09-17T20:55:27.132282Z","relevant_disorders":["Renal tract calcification (or Nephrolithiasis or nephrocalcinosis)","Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)","R256"],"stats":{"number_of_genes":42,"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)"}]}},{"gene_data":{"alias":["XT3","Xtrp3"],"biotype":"protein_coding","hgnc_id":"HGNC:30927","gene_name":"solute carrier family 6 member 20","omim_gene":["605616"],"alias_name":null,"gene_symbol":"SLC6A20","hgnc_symbol":"SLC6A20","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:45796942-45838027","ensembl_id":"ENSG00000163817"}},"GRch38":{"90":{"location":"3:45755450-45796535","ensembl_id":"ENSG00000163817"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A20","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24816252","19033659"],"evidence":["UKGTN","Literature","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hyperglycinuria\t138500","Iminoglycinuria, digenic\t242600"],"mode_of_inheritance":"BOTH monoallelic and 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":["XT3","Xtrp3"],"biotype":"protein_coding","hgnc_id":"HGNC:30927","gene_name":"solute carrier family 6 member 20","omim_gene":["605616"],"alias_name":null,"gene_symbol":"SLC6A20","hgnc_symbol":"SLC6A20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45796942-45838027","ensembl_id":"ENSG00000163817"}},"GRch38":{"90":{"location":"3:45755450-45796535","ensembl_id":"ENSG00000163817"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24816252","19033659"],"evidence":["Expert Review Green"],"phenotypes":["Hyperglycinuria"],"mode_of_inheritance":"BOTH monoallelic and 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"}]}}]}