{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18957847"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Eligibility statement prior genetic testing"," UKGTN"],"phenotypes":["Striate keratoderma with woolly hair","Arrhythmogenic right ventricular dysplasia 11, 610476","Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":215,"hash_id":"562f5e7822c1fc582756e3bb","name":"Palmoplantar keratoderma and erythrokeratodermas","disease_group":"Dermatological disorders","disease_sub_group":"Keratodermas","status":"public","version":"1.16","version_created":"2019-06-20T15:15:14.882420Z","relevant_disorders":[],"stats":{"number_of_genes":45,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18957847"],"evidence":["Expert Review Green"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 11, 610476","Striate keratoderma with woolly hair","Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":555,"hash_id":null,"name":"Ichthyosis and erythrokeratoderma","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-09T15:38:37.080974Z","relevant_disorders":[],"stats":{"number_of_genes":64,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Desmosomal disorders","Palmoplantar keratoderma, woolly hair"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":556,"hash_id":null,"name":"Palmoplantar keratodermas","disease_group":"","disease_sub_group":"","status":"public","version":"0.9","version_created":"2019-09-09T15:38:38.871976Z","relevant_disorders":[],"stats":{"number_of_genes":69,"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":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27532257","23500315","29567486"],"evidence":["South West GLH","London South GLH","North West GLH","Expert Review Green","Expert list","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 11","Arrhythmogenic right ventricular dysplasia 11 (610476)","Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair","Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","London South GLH","Expert list"],"phenotypes":[],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23500315","27532257"],"evidence":["Expert List","Expert Review Green","South West GLH","London South GLH","North West GLH"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair","Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)","Arrhythmogenic right ventricular dysplasia 11","Arrhythmogenic right ventricular dysplasia 11 (610476)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","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":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Expert Review Green"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair","Arrhythmogenic right ventricular dysplasia 11"],"mode_of_inheritance":"BOTH monoallelic and 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."}]}},{"gene_data":{"alias":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27532257","23500315"],"evidence":["London South GLH","North West GLH","Expert Review Green","London South GLH","North West GLH","Expert Review Green"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair","Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)","Arrhythmogenic right ventricular dysplasia 11","Arrhythmogenic right ventricular dysplasia 11 (610476)"],"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."}]}}]}
