{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["B6P"],"biotype":"protein_coding","hgnc_id":"HGNC:9023","gene_name":"plakophilin 1","omim_gene":["601975"],"alias_name":["ectodermal dysplasia/skin fragility syndrome"],"gene_symbol":"PKP1","hgnc_symbol":"PKP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:201252580-201302121","ensembl_id":"ENSG00000081277"}},"GRch38":{"90":{"location":"1:201283452-201332993","ensembl_id":"ENSG00000081277"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"PKP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19945625","25565931","26288439","28182260","24073657"],"evidence":["Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert Review Green","Eligibility statement prior genetic testing"],"phenotypes":["Ectodermal dysplasia/skin fragility syndrome, 604536","McGrath Syndrome","Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":119,"hash_id":"56310b9a22c1fc58285b282c","name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"Skin fragility disorders","status":"public","version":"1.6","version_created":"2019-01-07T16:40:38.182703Z","relevant_disorders":[],"stats":{"number_of_genes":21,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["B6P"],"biotype":"protein_coding","hgnc_id":"HGNC:9023","gene_name":"plakophilin 1","omim_gene":["601975"],"alias_name":["ectodermal dysplasia/skin fragility syndrome"],"gene_symbol":"PKP1","hgnc_symbol":"PKP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201252580-201302121","ensembl_id":"ENSG00000081277"}},"GRch38":{"90":{"location":"1:201283452-201332993","ensembl_id":"ENSG00000081277"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"PKP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19945625","25565931","28182260","26288439","24073657"],"evidence":["Expert Review Green"],"phenotypes":["Ectodermal dysplasia/skin fragility syndrome, 604536","McGrath Syndrome","Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa"],"mode_of_inheritance":"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":["B6P"],"biotype":"protein_coding","hgnc_id":"HGNC:9023","gene_name":"plakophilin 1","omim_gene":["601975"],"alias_name":["ectodermal dysplasia/skin fragility syndrome"],"gene_symbol":"PKP1","hgnc_symbol":"PKP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201252580-201302121","ensembl_id":"ENSG00000081277"}},"GRch38":{"90":{"location":"1:201283452-201332993","ensembl_id":"ENSG00000081277"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"PKP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25565931","22309335","24073657"],"evidence":["Expert Review Green"],"phenotypes":["Ectodermal dysplasia/skin fragility syndrome, 604536","Ectodermal Dysplasia/Skin Fragility Syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":553,"hash_id":null,"name":"Ectodermal dysplasia","disease_group":"","disease_sub_group":"","status":"public","version":"0.22","version_created":"2019-09-17T19:00:33.930109Z","relevant_disorders":[],"stats":{"number_of_genes":71,"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":["B6P"],"biotype":"protein_coding","hgnc_id":"HGNC:9023","gene_name":"plakophilin 1","omim_gene":["601975"],"alias_name":["ectodermal dysplasia/skin fragility syndrome"],"gene_symbol":"PKP1","hgnc_symbol":"PKP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:201252580-201302121","ensembl_id":"ENSG00000081277"}},"GRch38":{"90":{"location":"1:201283452-201332993","ensembl_id":"ENSG00000081277"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"PKP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25565931","24073657","22309335"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Ectodermal dysplasia/skin fragility syndrome, 604536","Ectodermal Dysplasia/Skin Fragility Syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":136,"hash_id":"561677af22c1fc212a6db65d","name":"Ectodermal dysplasia without a known gene mutation","disease_group":"Dermatological disorders","disease_sub_group":"Ectodermal dysplasias","status":"public","version":"1.19","version_created":"2019-06-20T15:15:01.983686Z","relevant_disorders":[],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["B6P"],"biotype":"protein_coding","hgnc_id":"HGNC:9023","gene_name":"plakophilin 1","omim_gene":["601975"],"alias_name":["ectodermal dysplasia/skin fragility syndrome"],"gene_symbol":"PKP1","hgnc_symbol":"PKP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201252580-201302121","ensembl_id":"ENSG00000081277"}},"GRch38":{"90":{"location":"1:201283452-201332993","ensembl_id":"ENSG00000081277"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"PKP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Desmosomal disorders"],"mode_of_inheritance":"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"}]}}]}