{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14341","gene_name":"EDAR associated death domain","omim_gene":["606603"],"alias_name":null,"gene_symbol":"EDARADD","hgnc_symbol":"EDARADD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:236511562-236648214","ensembl_id":"ENSG00000186197"}},"GRch38":{"90":{"location":"1:236348257-236484914","ensembl_id":"ENSG00000186197"}}},"hgnc_date_symbol_changed":"2002-02-08"},"entity_type":"gene","entity_name":"EDARADD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20477971","21626677","26440664","22013926 (rat model)","26991760","20222921","25206167 (review)"],"evidence":["Expert Review Green"],"phenotypes":["Hypohidrotic Ectodermal Dysplasia, Recessive","Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia","Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940","Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941","Hypohidrotic ectodermal dysplasia","Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:14341","gene_name":"EDAR associated death domain","omim_gene":["606603"],"alias_name":null,"gene_symbol":"EDARADD","hgnc_symbol":"EDARADD","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:236511562-236648214","ensembl_id":"ENSG00000186197"}},"GRch38":{"90":{"location":"1:236348257-236484914","ensembl_id":"ENSG00000186197"}}},"hgnc_date_symbol_changed":"2002-02-08"},"entity_type":"gene","entity_name":"EDARADD","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26991760","26440664","25206167 (review)","22013926 (rat model)","21626677","20477971","20222921"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Hypohidrotic ectodermal dysplasia","Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940","Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941","Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941","Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940","Hypohidrotic Ectodermal Dysplasia, Recessive","Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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"}]}}]}