{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinicalTrials.gov"],"phenotypes":["Optic, Atrophy, Hereditary, Leber"],"mode_of_inheritance":"","tags":[],"panel":{"id":412,"hash_id":null,"name":"Gene therapy clinical trials","disease_group":"Actionable information","disease_sub_group":"Clinical trials","status":"public","version":"0.7","version_created":"2019-06-20T15:11:44.609881Z","relevant_disorders":[],"stats":{"number_of_genes":21,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Actionable","slug":"actionable","description":"Actionable"}]}},{"gene_data":{"alias":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26448634","27159682","23665487","23805034","26683077","22553750","20301353"],"evidence":["Expert List","Expert Review Green"],"phenotypes":["Leber's hereditary optic neuropathy"],"mode_of_inheritance":"MITOCHONDRIAL","tags":[],"panel":{"id":530,"hash_id":null,"name":"Leber hereditary optic neuropathy","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-10-02T14:20:06.278256Z","relevant_disorders":["R42"],"stats":{"number_of_genes":3,"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":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26448634","20301353","27159682","26683077","23805034","23665487","22553750"],"evidence":["London North GLH","Expert Review Green","UKGTN"],"phenotypes":["Leber's hereditary optic neuropathy"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["gene-therapy-trial"],"panel":{"id":186,"hash_id":"553f95e2bb5a1616e5ed45c8","name":"Optic neuropathy","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:24:42.288499Z","relevant_disorders":["Inherited optic neuropathies","R41","R42.2"],"stats":{"number_of_genes":48,"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)"},{"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":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["LEBER OPTIC ATROPHY","MELAS SYNDROME","LEBER OPTIC ATROPHY AND DYSTONIA","MITOCHONDRIAL COMPLEX I DEFICIENCY"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["gene-therapy-trial"],"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":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["MELAS SYNDROME","LEBER OPTIC ATROPHY AND DYSTONIA","LEBER OPTIC ATROPHY","MITOCHONDRIAL COMPLEX I DEFICIENCY"],"mode_of_inheritance":"MITOCHONDRIAL","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":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["29340697","12707444"],"evidence":["Expert Review Red","Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Mitochondrial complex I deficiency","autism spectrum disorder","intellectual disability"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["cnv"],"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"}]}},{"gene_data":{"alias":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN"],"phenotypes":["LEBER OPTIC ATROPHY","MELAS SYNDROME","LEBER OPTIC ATROPHY AND DYSTONIA","MITOCHONDRIAL COMPLEX I DEFICIENCY"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["gene-therapy-trial"],"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."}]}},{"gene_data":{"alias":["ND4","NAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7459","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","omim_gene":["516003"],"alias_name":["complex I ND4 subunit","NADH-ubiquinone oxidoreductase chain 4"],"gene_symbol":"MT-ND4","hgnc_symbol":"MT-ND4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}},"GRch38":{"90":{"location":"MT:10760-12137","ensembl_id":"ENSG00000198886"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"MITOCHONDRIAL","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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 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."}]}}]}