{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NAPI-3","NPTIIa","SLC11"],"biotype":"protein_coding","hgnc_id":"HGNC:11019","gene_name":"solute carrier family 34 member 1","omim_gene":["182309"],"alias_name":["sodium/phosphate co-transporter","solute carrier family 17 (sodium phosphate), member 2","Na+-phosphate cotransporter type II"],"gene_symbol":"SLC34A1","hgnc_symbol":"SLC34A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:176806236-176825849","ensembl_id":"ENSG00000131183"}},"GRch38":{"90":{"location":"5:177379235-177398848","ensembl_id":"ENSG00000131183"}}},"hgnc_date_symbol_changed":"1994-05-25"},"entity_type":"gene","entity_name":"SLC34A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12324554","9560283","25050900"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (612286)"],"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":["NAPI-3","NPTIIa","SLC11"],"biotype":"protein_coding","hgnc_id":"HGNC:11019","gene_name":"solute carrier family 34 member 1","omim_gene":["182309"],"alias_name":["sodium/phosphate co-transporter","solute carrier family 17 (sodium phosphate), member 2","Na+-phosphate cotransporter type II"],"gene_symbol":"SLC34A1","hgnc_symbol":"SLC34A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:176806236-176825849","ensembl_id":"ENSG00000131183"}},"GRch38":{"90":{"location":"5:177379235-177398848","ensembl_id":"ENSG00000131183"}}},"hgnc_date_symbol_changed":"1994-05-25"},"entity_type":"gene","entity_name":"SLC34A1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 26047794","25050900","12324554"],"evidence":["Expert Review Green","Expert","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286","Hypophosphatemic Nephrolithiasis/Osteoporosis","Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive)","Nephrolithiasis with osteoporosis and hypophosphatemia","Nephrolithiasis with osteoporosis and hypophosphatemia"],"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":["NAPI-3","NPTIIa","SLC11"],"biotype":"protein_coding","hgnc_id":"HGNC:11019","gene_name":"solute carrier family 34 member 1","omim_gene":["182309"],"alias_name":["sodium/phosphate co-transporter","solute carrier family 17 (sodium phosphate), member 2","Na+-phosphate cotransporter type II"],"gene_symbol":"SLC34A1","hgnc_symbol":"SLC34A1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:176806236-176825849","ensembl_id":"ENSG00000131183"}},"GRch38":{"90":{"location":"5:177379235-177398848","ensembl_id":"ENSG00000131183"}}},"hgnc_date_symbol_changed":"1994-05-25"},"entity_type":"gene","entity_name":"SLC34A1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286","Fanconi renotubular syndrome 2, 613388"],"mode_of_inheritance":"","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NAPI-3","NPTIIa","SLC11"],"biotype":"protein_coding","hgnc_id":"HGNC:11019","gene_name":"solute carrier family 34 member 1","omim_gene":["182309"],"alias_name":["sodium/phosphate co-transporter","solute carrier family 17 (sodium phosphate), member 2","Na+-phosphate cotransporter type II"],"gene_symbol":"SLC34A1","hgnc_symbol":"SLC34A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:176806236-176825849","ensembl_id":"ENSG00000131183"}},"GRch38":{"90":{"location":"5:177379235-177398848","ensembl_id":"ENSG00000131183"}}},"hgnc_date_symbol_changed":"1994-05-25"},"entity_type":"gene","entity_name":"SLC34A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12324554","20335586"],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":["Hypercalcemia, infantile, 2, MIM 616963","Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286","?Fanconi renotubular syndrome 2 613388"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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)"}]}}]}
