{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["AIBP","MGC119143","MGC119144","MGC119145","YJEFN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18453","gene_name":"NAD(P)HX epimerase","omim_gene":["608862"],"alias_name":["apoA-I binding protein","NAD(P)H-hydrate epimerase"],"gene_symbol":"NAXE","hgnc_symbol":"NAXE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156561554-156564091","ensembl_id":"ENSG00000163382"}},"GRch38":{"90":{"location":"1:156591762-156594299","ensembl_id":"ENSG00000163382"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27616477, 27122014"],"evidence":["Expert Review Red"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"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":["AIBP","MGC119143","MGC119144","MGC119145","YJEFN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18453","gene_name":"NAD(P)HX epimerase","omim_gene":["608862"],"alias_name":["apoA-I binding protein","NAD(P)H-hydrate epimerase"],"gene_symbol":"NAXE","hgnc_symbol":"NAXE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156561554-156564091","ensembl_id":"ENSG00000163382"}},"GRch38":{"90":{"location":"1:156591762-156594299","ensembl_id":"ENSG00000163382"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27616477, 27122014"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["AIBP","MGC119143","MGC119144","MGC119145","YJEFN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18453","gene_name":"NAD(P)HX epimerase","omim_gene":["608862"],"alias_name":["apoA-I binding protein","NAD(P)H-hydrate epimerase"],"gene_symbol":"NAXE","hgnc_symbol":"NAXE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156561554-156564091","ensembl_id":"ENSG00000163382"}},"GRch38":{"90":{"location":"1:156591762-156594299","ensembl_id":"ENSG00000163382"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27616477","27290639","27122014"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186"],"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":["AIBP","MGC119143","MGC119144","MGC119145","YJEFN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18453","gene_name":"NAD(P)HX epimerase","omim_gene":["608862"],"alias_name":["apoA-I binding protein","NAD(P)H-hydrate epimerase"],"gene_symbol":"NAXE","hgnc_symbol":"NAXE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156561554-156564091","ensembl_id":"ENSG00000163382"}},"GRch38":{"90":{"location":"1:156591762-156594299","ensembl_id":"ENSG00000163382"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":539,"hash_id":null,"name":"Possible mitochondrial disorder - nuclear genes","disease_group":"","disease_sub_group":"","status":"public","version":"1.12","version_created":"2019-09-16T14:57:01.996850Z","relevant_disorders":["R63"],"stats":{"number_of_genes":374,"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":["AIBP","MGC119143","MGC119144","MGC119145","YJEFN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18453","gene_name":"NAD(P)HX epimerase","omim_gene":["608862"],"alias_name":["apoA-I binding protein","NAD(P)H-hydrate epimerase"],"gene_symbol":"NAXE","hgnc_symbol":"NAXE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156561554-156564091","ensembl_id":"ENSG00000163382"}},"GRch38":{"90":{"location":"1:156591762-156594299","ensembl_id":"ENSG00000163382"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXE","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["Lethal Neurometabolic Disorder of Early Childhood"],"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":["AIBP","MGC119143","MGC119144","MGC119145","YJEFN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18453","gene_name":"NAD(P)HX epimerase","omim_gene":["608862"],"alias_name":["apoA-I binding protein","NAD(P)H-hydrate epimerase"],"gene_symbol":"NAXE","hgnc_symbol":"NAXE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156561554-156564091","ensembl_id":"ENSG00000163382"}},"GRch38":{"90":{"location":"1:156591762-156594299","ensembl_id":"ENSG00000163382"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXE","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27616477"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["Lethal Neurometabolic Disorder of Early Childhood"],"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":["AIBP","MGC119143","MGC119144","MGC119145","YJEFN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18453","gene_name":"NAD(P)HX epimerase","omim_gene":["608862"],"alias_name":["apoA-I binding protein","NAD(P)H-hydrate epimerase"],"gene_symbol":"NAXE","hgnc_symbol":"NAXE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156561554-156564091","ensembl_id":"ENSG00000163382"}},"GRch38":{"90":{"location":"1:156591762-156594299","ensembl_id":"ENSG00000163382"}}},"hgnc_date_symbol_changed":"2016-03-09"},"entity_type":"gene","entity_name":"NAXE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27616477","27290639","27122014"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"number_of_regions":1},"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"},{"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."}]}}]}
