{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CDHF4"],"biotype":"protein_coding","hgnc_id":"HGNC:3048","gene_name":"desmoglein 1","omim_gene":["125670"],"alias_name":null,"gene_symbol":"DSG1","hgnc_symbol":"DSG1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"18:28898052-28936992","ensembl_id":"ENSG00000134760"}},"GRch38":{"90":{"location":"18:31318089-31357029","ensembl_id":"ENSG00000134760"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSG1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27534273"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Other"],"phenotypes":["Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508","Keratosis palmoplantaris striata I, AD, 148700"],"mode_of_inheritance":"BOTH monoallelic and 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":["CDHF4"],"biotype":"protein_coding","hgnc_id":"HGNC:3048","gene_name":"desmoglein 1","omim_gene":["125670"],"alias_name":null,"gene_symbol":"DSG1","hgnc_symbol":"DSG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28898052-28936992","ensembl_id":"ENSG00000134760"}},"GRch38":{"90":{"location":"18:31318089-31357029","ensembl_id":"ENSG00000134760"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27534273"],"evidence":["Expert Review Green"],"phenotypes":["Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508","Keratosis palmoplantaris striata I, AD, 148700"],"mode_of_inheritance":"BOTH monoallelic and 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":["CDHF4"],"biotype":"protein_coding","hgnc_id":"HGNC:3048","gene_name":"desmoglein 1","omim_gene":["125670"],"alias_name":null,"gene_symbol":"DSG1","hgnc_symbol":"DSG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28898052-28936992","ensembl_id":"ENSG00000134760"}},"GRch38":{"90":{"location":"18:31318089-31357029","ensembl_id":"ENSG00000134760"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSG1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":[],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":554,"hash_id":null,"name":"Epidermolysis bullosa and congenital skin fragility","disease_group":"","disease_sub_group":"","status":"public","version":"0.16","version_created":"2019-09-17T18:43:54.606444Z","relevant_disorders":[],"stats":{"number_of_genes":46,"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":["CDHF4"],"biotype":"protein_coding","hgnc_id":"HGNC:3048","gene_name":"desmoglein 1","omim_gene":["125670"],"alias_name":null,"gene_symbol":"DSG1","hgnc_symbol":"DSG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28898052-28936992","ensembl_id":"ENSG00000134760"}},"GRch38":{"90":{"location":"18:31318089-31357029","ensembl_id":"ENSG00000134760"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Palmoplantar keratoderma","Congenital erythroderma with palmoplantar keratoderma","Desmosomal disorders"],"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":["CDHF4"],"biotype":"protein_coding","hgnc_id":"HGNC:3048","gene_name":"desmoglein 1","omim_gene":["125670"],"alias_name":null,"gene_symbol":"DSG1","hgnc_symbol":"DSG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28898052-28936992","ensembl_id":"ENSG00000134760"}},"GRch38":{"90":{"location":"18:31318089-31357029","ensembl_id":"ENSG00000134760"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSG1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"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."}]}},{"gene_data":{"alias":["CDHF4"],"biotype":"protein_coding","hgnc_id":"HGNC:3048","gene_name":"desmoglein 1","omim_gene":["125670"],"alias_name":null,"gene_symbol":"DSG1","hgnc_symbol":"DSG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28898052-28936992","ensembl_id":"ENSG00000134760"}},"GRch38":{"90":{"location":"18:31318089-31357029","ensembl_id":"ENSG00000134760"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSG1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23974871"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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"}]}}]}
