{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","North London GLH"],"phenotypes":["Cystinosis, atypical nephropathic 219800","Cystinosis, nephropathic 219800","Cystinosis, late-onset juvenile or adolescent nephropathic 219900","Cystinosis, ocular nonnephropathic 219750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":529,"hash_id":null,"name":"Lysosomal storage disorder","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-17T11:32:47.666311Z","relevant_disorders":["R276"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"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)"},{"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":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","9537412","19863563"],"evidence":["UKGTN","Radboud University Medical Center, Nijmegen","Expert Review","Literature","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["Cystinosis, atypical nephropathic 219800","Cystinosis, late-onset juvenile or adolescent nephropathic 219900","Cystinosis, nephropathic 219800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":156,"hash_id":"5693974122c1fc251660fb1f","name":"Unexplained kidney failure in young people","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.73","version_created":"2019-07-17T16:13:42.477129Z","relevant_disorders":["Familial IgA nephropathy and IgA vasculitis","End-stage renal disease - childhood onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","19863563","9537412"],"evidence":["Expert Review Green"],"phenotypes":["Cystinosis, atypical nephropathic 219800","Cystinosis, nephropathic 219800","Cystinosis, late-onset juvenile or adolescent nephropathic 219900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":493,"hash_id":null,"name":"Renal and urinary tract disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.18","version_created":"2019-07-04T13:55:26.963386Z","relevant_disorders":[],"stats":{"number_of_genes":177,"number_of_strs":0,"number_of_regions":3},"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."}]}},{"gene_data":{"alias":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","19863563","9537412"],"evidence":["Expert Review Green"],"phenotypes":["Cystinosis, atypical nephropathic 219800","Cystinosis, nephropathic 219800","Cystinosis, late-onset juvenile or adolescent nephropathic 219900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":678,"hash_id":null,"name":"Unexplained paediatric onset end-stage renal disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.43","version_created":"2019-09-25T12:25:36.245604Z","relevant_disorders":["R257"],"stats":{"number_of_genes":229,"number_of_strs":0,"number_of_regions":3},"types":[{"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":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Literature"],"phenotypes":["Cystinosis, atypical nephropathic\t219800","Cystinosis, late-onset juvenile or adolescent nephropathic\t219900","Cystinosis, nephropathic\t219800","Cystinosis, ocular nonnephropathic\t219750"],"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":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["219750"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Cystinosis, atypical nephropathic"],"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"}]}},{"gene_data":{"alias":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["CYSTINOSIS NEPHROPATHIC TYPE","CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE","CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"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."}]}},{"gene_data":{"alias":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19863563","10556299","10444339"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750","CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900","CYSTINOSIS NEPHROPATHIC TYPE 219800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","9537412","19863563"],"evidence":["NHS GMS","Radboud University Medical Center, Nijmegen","Literature","Emory Genetics Laboratory","Expert Review","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Cystinosis, atypical nephropathic 219800","Cystinosis, late-onset juvenile or adolescent nephropathic 219900","Cystinosis, nephropathic 219800","Cystinosis, ocular nonnephropathic 219750"],"mode_of_inheritance":"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)"}]}},{"gene_data":{"alias":["CTNS-LSB","PQLC4"],"biotype":"protein_coding","hgnc_id":"HGNC:2518","gene_name":"cystinosin, lysosomal cystine transporter","omim_gene":["606272"],"alias_name":null,"gene_symbol":"CTNS","hgnc_symbol":"CTNS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:3539762-3564836","ensembl_id":"ENSG00000040531"}},"GRch38":{"90":{"location":"17:3636468-3661542","ensembl_id":"ENSG00000040531"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"CTNS","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Cystinosis, nephropathic, 219800","Cystinosis, ocular","nonnephropathic, 219750","Cystinosis, late-onset juvenile or adolescent nephropathic, 219900","Cystinosis, atypical nephropathic, 219800",""],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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"}]}}]}
