{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Emery-Dreifuss muscular dystrophy 7, AD 614302"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"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":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27532257","23812740","29567486","26840987"],"evidence":["South West GLH","London South GLH","North West GLH","Expert Review Green","UKGTN","Expert list","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 5 (604400)","Arrhythmogenic right ventricular dysplasia 5","Emery-Dreifuss muscular dystrophy 7, AD (614302)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":134,"hash_id":"55a3876e22c1fc63fec6d0da","name":"Arrhythmogenic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiomyopathy","status":"public","version":"1.41","version_created":"2019-10-03T13:27:28.690231Z","relevant_disorders":["Arrhythmogenic Right Ventricular Cardiomyopathy","Arrythmogenic cardiomyopathy","R133"],"stats":{"number_of_genes":19,"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)"}]}},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Oxford Medical Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":47,"hash_id":"55a4d99022c1fc6710839b84","name":"Dilated Cardiomyopathy and conduction defects","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiomyopathy","status":"public","version":"1.63","version_created":"2019-09-30T12:02:00.646768Z","relevant_disorders":["Dilated Cardiomyopathy","Dilated Cardiomyopathy (DCM)","Dilated cardiomyopathy - teen and adult"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","","Radboud University Medical Center, Nijmegen"],"phenotypes":["Emery-Dreifuss muscular dystrophy 7, AD 614302"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":207,"hash_id":"55b117c022c1fc7dd7ce411c","name":"Congenital muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.62","version_created":"2019-10-09T12:19:40.245789Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":1,"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)"}]}},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","","Expert list"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 5, 604400"],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23812740","27532257"],"evidence":["Expert List","Expert Review Green","South West GLH","London South GLH","North West GLH"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 5","Arrhythmogenic right ventricular dysplasia 5 (604400)","Emery-Dreifuss muscular dystrophy 7, AD (614302)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":652,"hash_id":null,"name":"Dilated cardiomyopathy - adult and teen","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiomyopathy","status":"public","version":"0.50","version_created":"2019-10-03T13:24:45.938053Z","relevant_disorders":["R132"],"stats":{"number_of_genes":34,"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)"}]}},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","South West GLH","Emory Genetics Laboratory"],"phenotypes":["Cardiomyopathy"],"mode_of_inheritance":"","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"number_of_regions":2},"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."}]}},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Expert Review Green"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 5","Emery-Dreifuss muscular dystrophy 7, AD 614302"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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."}]}},{"gene_data":{"alias":["MGC3222","DKFZp586G1919","LUMA"],"biotype":"protein_coding","hgnc_id":"HGNC:28472","gene_name":"transmembrane protein 43","omim_gene":["612048"],"alias_name":null,"gene_symbol":"TMEM43","hgnc_symbol":"TMEM43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:14166440-14185179","ensembl_id":"ENSG00000170876"}},"GRch38":{"90":{"location":"3:14124940-14143679","ensembl_id":"ENSG00000170876"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"TMEM43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27532257","23812740"],"evidence":["London South GLH","North West GLH","Expert Review Green","London South GLH","North West GLH","Expert Review Green"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 5","Emery-Dreifuss muscular dystrophy 7, AD 614302","Emery-Dreifuss muscular dystrophy 7, AD (614302)","Arrhythmogenic right ventricular dysplasia 5 (604400)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":750,"hash_id":null,"name":"Sudden cardiac death","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-24T10:05:54.784946Z","relevant_disorders":["Molecular autopsy","R138"],"stats":{"number_of_genes":119,"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 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."}]}}]}
