{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["B22","UQOR22","LYRM3"],"biotype":"protein_coding","hgnc_id":"HGNC:7704","gene_name":"NADH:ubiquinone oxidoreductase subunit B9","omim_gene":["601445"],"alias_name":["complex I B22 subunit"],"gene_symbol":"NDUFB9","hgnc_symbol":"NDUFB9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:125551344-125580751","ensembl_id":"ENSG00000147684"}},"GRch38":{"90":{"location":"8:124539103-124568510","ensembl_id":"ENSG00000147684"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"NDUFB9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22200994"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["?Mitochondrial complex I deficiency, nuclear type 24, 618245"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":534,"hash_id":null,"name":"Mitochondrial disorder with complex I deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T15:56:06.292549Z","relevant_disorders":["R353"],"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":["B22","UQOR22","LYRM3"],"biotype":"protein_coding","hgnc_id":"HGNC:7704","gene_name":"NADH:ubiquinone oxidoreductase subunit B9","omim_gene":["601445"],"alias_name":["complex I B22 subunit"],"gene_symbol":"NDUFB9","hgnc_symbol":"NDUFB9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:125551344-125580751","ensembl_id":"ENSG00000147684"}},"GRch38":{"90":{"location":"8:124539103-124568510","ensembl_id":"ENSG00000147684"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"NDUFB9","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","22200994"],"evidence":["Expert Review Amber","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["?Mitochondrial complex I deficiency, nuclear type 24 618245"],"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":["B22","UQOR22","LYRM3"],"biotype":"protein_coding","hgnc_id":"HGNC:7704","gene_name":"NADH:ubiquinone oxidoreductase subunit B9","omim_gene":["601445"],"alias_name":["complex I B22 subunit"],"gene_symbol":"NDUFB9","hgnc_symbol":"NDUFB9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:125551344-125580751","ensembl_id":"ENSG00000147684"}},"GRch38":{"90":{"location":"8:124539103-124568510","ensembl_id":"ENSG00000147684"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"NDUFB9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22200994"],"evidence":["Expert Review Amber","London North GLH","NHS GMS"],"phenotypes":["?Mitochondrial complex I deficiency, nuclear type 24 618245"],"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":["B22","UQOR22","LYRM3"],"biotype":"protein_coding","hgnc_id":"HGNC:7704","gene_name":"NADH:ubiquinone oxidoreductase subunit B9","omim_gene":["601445"],"alias_name":["complex I B22 subunit"],"gene_symbol":"NDUFB9","hgnc_symbol":"NDUFB9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:125551344-125580751","ensembl_id":"ENSG00000147684"}},"GRch38":{"90":{"location":"8:124539103-124568510","ensembl_id":"ENSG00000147684"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"NDUFB9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["?Mitochondrial complex I deficiency, nuclear type 24, 618245"],"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":["B22","UQOR22","LYRM3"],"biotype":"protein_coding","hgnc_id":"HGNC:7704","gene_name":"NADH:ubiquinone oxidoreductase subunit B9","omim_gene":["601445"],"alias_name":["complex I B22 subunit"],"gene_symbol":"NDUFB9","hgnc_symbol":"NDUFB9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:125551344-125580751","ensembl_id":"ENSG00000147684"}},"GRch38":{"90":{"location":"8:124539103-124568510","ensembl_id":"ENSG00000147684"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"NDUFB9","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22200994"],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber","Radboud University Medical Center, Nijmegen","Expert list","Expert"],"phenotypes":["Isolated complex I deficiency","?Mitochondrial complex I deficiency, 252010"],"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."}]}}]}