{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10297","gene_name":"ribose 5-phosphate isomerase A","omim_gene":["180430"],"alias_name":["ribose 5-phosphate epimerase"],"gene_symbol":"RPIA","hgnc_symbol":"RPIA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:88991162-89050452","ensembl_id":"ENSG00000153574"}},"GRch38":{"90":{"location":"2:88691644-88750935","ensembl_id":"ENSG00000153574"}}},"hgnc_date_symbol_changed":"1999-09-30"},"entity_type":"gene","entity_name":"RPIA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["14988808","27604308","28801340","30088433"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism)","?Ribose 5-phosphate isomerase deficiency 608611"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10297","gene_name":"ribose 5-phosphate isomerase A","omim_gene":["180430"],"alias_name":["ribose 5-phosphate epimerase"],"gene_symbol":"RPIA","hgnc_symbol":"RPIA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:88991162-89050452","ensembl_id":"ENSG00000153574"}},"GRch38":{"90":{"location":"2:88691644-88750935","ensembl_id":"ENSG00000153574"}}},"hgnc_date_symbol_changed":"1999-09-30"},"entity_type":"gene","entity_name":"RPIA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","30088433","14988808","28801340"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism)","?Ribose 5-phosphate isomerase deficiency 608611"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10297","gene_name":"ribose 5-phosphate isomerase A","omim_gene":["180430"],"alias_name":["ribose 5-phosphate epimerase"],"gene_symbol":"RPIA","hgnc_symbol":"RPIA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:88991162-89050452","ensembl_id":"ENSG00000153574"}},"GRch38":{"90":{"location":"2:88691644-88750935","ensembl_id":"ENSG00000153574"}}},"hgnc_date_symbol_changed":"1999-09-30"},"entity_type":"gene","entity_name":"RPIA","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["14988808","20499043","28801340","30088433"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Amber","Literature"],"phenotypes":["?Ribose 5-phosphate isomerase deficiency 608611"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10297","gene_name":"ribose 5-phosphate isomerase A","omim_gene":["180430"],"alias_name":["ribose 5-phosphate epimerase"],"gene_symbol":"RPIA","hgnc_symbol":"RPIA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:88991162-89050452","ensembl_id":"ENSG00000153574"}},"GRch38":{"90":{"location":"2:88691644-88750935","ensembl_id":"ENSG00000153574"}}},"hgnc_date_symbol_changed":"1999-09-30"},"entity_type":"gene","entity_name":"RPIA","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["20499043","31056085","14988808","30088433","28801340"],"evidence":["Expert Review","Expert Review Green","Expert Review Green","Expert Review","Literature"],"phenotypes":["?Ribose 5-phosphate isomerase deficiency, 608611","Ribose 5-phosphate isomerase deficiency, MIM 608611."],"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"}]}}]}