{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NHERF","EBP50","NHERF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11075","gene_name":"SLC9A3 regulator 1","omim_gene":["604990"],"alias_name":null,"gene_symbol":"SLC9A3R1","hgnc_symbol":"SLC9A3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72744791-72765492","ensembl_id":"ENSG00000109062"}},"GRch38":{"90":{"location":"17:74748652-74769353","ensembl_id":"ENSG00000109062"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"SLC9A3R1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18784102","25296721","19073985"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (612287)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":482,"hash_id":null,"name":"Hypophosphataemia or rickets","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T12:01:20.025463Z","relevant_disorders":["R154"],"stats":{"number_of_genes":14,"number_of_strs":0,"number_of_regions":0},"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":"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."}]}},{"gene_data":{"alias":["NHERF","EBP50","NHERF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11075","gene_name":"SLC9A3 regulator 1","omim_gene":["604990"],"alias_name":null,"gene_symbol":"SLC9A3R1","hgnc_symbol":"SLC9A3R1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:72744791-72765492","ensembl_id":"ENSG00000109062"}},"GRch38":{"90":{"location":"17:74748652-74769353","ensembl_id":"ENSG00000109062"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"SLC9A3R1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen"],"phenotypes":["Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["NHERF","EBP50","NHERF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11075","gene_name":"SLC9A3 regulator 1","omim_gene":["604990"],"alias_name":null,"gene_symbol":"SLC9A3R1","hgnc_symbol":"SLC9A3R1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72744791-72765492","ensembl_id":"ENSG00000109062"}},"GRch38":{"90":{"location":"17:74748652-74769353","ensembl_id":"ENSG00000109062"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"SLC9A3R1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18784102","25296721","19073985"],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":["Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287"],"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)"}]}}]}