{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28787010"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":394,"hash_id":null,"name":"Familial Meniere Disease","disease_group":"Hearing and ear disorders","disease_sub_group":"Other hearing and ear disorders","status":"public","version":"1.1","version_created":"2018-01-17T16:26:29.432517Z","relevant_disorders":[],"stats":{"number_of_genes":130,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20819849","11220739","25655951","22036843","23266820"],"evidence":["Expert Review Green"],"phenotypes":["Mitochondrial complex I disorders","Leigh syndrome associated with mitochondrial complex I deficiency","Mitochondrial Leukoencephalopathy","Leigh syndrome"],"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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11220739","23266820","22036843","20819849","25655951"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial Leukoencephalopathy","Mitochondrial complex I disorders","Leigh syndrome","Leigh syndrome associated with mitochondrial complex I deficiency"],"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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28031252"],"evidence":["Expert Review Red","London North GLH"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 6, 618228"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 6, 618228"],"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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)","Isolated complex I deficiency","Mitochondrial complex I deficiency, 252010","Mitochondrial Diseases","Mitochondrial Respiratory Chain Complex I Deficiency"],"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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Mitochondrial complex I deficiency, 252010","Mitochondrial Diseases","Isolated complex I deficiency","Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)","Mitochondrial Respiratory Chain Complex I Deficiency"],"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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 6, 618228"],"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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["23266820","22036843","20819849","11220739","14749350"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency 252010"],"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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Mitochondrial complex I deficiency"],"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"}]}},{"gene_data":{"alias":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list","Expert"],"phenotypes":["Isolated complex I deficiency","Mitochondrial complex I deficiency, 252010","Mitochondrial Diseases","Mitochondrial Respiratory Chain Complex I Deficiency"],"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."}]}},{"gene_data":{"alias":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["MetBioNet","Expert Review Green","NHS GMS","Expert Review Green"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 6, 618228"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":749,"hash_id":null,"name":"Cardiomyopathies - including childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-16T12:01:25.928956Z","relevant_disorders":["Paediatric or syndromic cardiomyopathy","R135"],"stats":{"number_of_genes":180,"number_of_strs":0,"number_of_regions":1},"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 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."}]}}]}
