{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NEPPK"],"biotype":"protein_coding","hgnc_id":"HGNC:6423","gene_name":"keratin 16","omim_gene":["148067"],"alias_name":["focal non-epidermolytic palmoplantar keratoderma"],"gene_symbol":"KRT16","hgnc_symbol":"KRT16","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:39766030-39772151","ensembl_id":"ENSG00000186832"}},"GRch38":{"90":{"location":"17:41609778-41615899","ensembl_id":"ENSG00000186832"}}},"hgnc_date_symbol_changed":"1992-12-14"},"entity_type":"gene","entity_name":"KRT16","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["7539673","8595410","21790523","21160496"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Focal keratoderma","Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200","Palmoplantar keratoderma, nonepidermolytic, focal, 613000","Pachyonychia Congenita, Type 1","focal non-epidermolytic palmoplantar keratoderma (NEPPK)","FNEPPK1","striate keratoderma (palmar)","focal keratoderma (palmar)","Pachyonychia congenita (PC)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["NEPPK"],"biotype":"protein_coding","hgnc_id":"HGNC:6423","gene_name":"keratin 16","omim_gene":["148067"],"alias_name":["focal non-epidermolytic palmoplantar keratoderma"],"gene_symbol":"KRT16","hgnc_symbol":"KRT16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39766030-39772151","ensembl_id":"ENSG00000186832"}},"GRch38":{"90":{"location":"17:41609778-41615899","ensembl_id":"ENSG00000186832"}}},"hgnc_date_symbol_changed":"1992-12-14"},"entity_type":"gene","entity_name":"KRT16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21160496","8595410","21790523","7539673"],"evidence":["Expert Review Green"],"phenotypes":["Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200","focal non-epidermolytic palmoplantar keratoderma (NEPPK)","striate keratoderma (palmar)","Palmoplantar keratoderma, nonepidermolytic, focal, 613000","Pachyonychia Congenita, Type 1","focal keratoderma (palmar)","Focal keratoderma","FNEPPK1","Pachyonychia congenita (PC)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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"}]}}]}
