{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["Hb-5"],"biotype":"protein_coding","hgnc_id":"HGNC:6462","gene_name":"keratin 85","omim_gene":["602767"],"alias_name":["hard keratin type II"],"gene_symbol":"KRT85","hgnc_symbol":"KRT85","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52753790-52761265","ensembl_id":"ENSG00000135443"}},"GRch38":{"90":{"location":"12:52360006-52367481","ensembl_id":"ENSG00000135443"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT85","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032).","16525032 (a homozygous variant identified in a large kindred of Pakistani origin)"],"evidence":["Expert Review Green"],"phenotypes":["Ectodermal dysplasia, pure hair and nail type","Ectodermal dysplasia 4, hair/nail type, 602032"],"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":["Hb-5"],"biotype":"protein_coding","hgnc_id":"HGNC:6462","gene_name":"keratin 85","omim_gene":["602767"],"alias_name":["hard keratin type II"],"gene_symbol":"KRT85","hgnc_symbol":"KRT85","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:52753790-52761265","ensembl_id":"ENSG00000135443"}},"GRch38":{"90":{"location":"12:52360006-52367481","ensembl_id":"ENSG00000135443"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT85","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16525032 (a homozygous variant identified in a large kindred of Pakistani origin)","19865094 (2 different homozygous variants reported in two consanguineous Pakistani families - one variant was the same as identified in PMID:16525032)."],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Ectodermal dysplasia 4, hair/nail type, 602032","Ectodermal dysplasia, pure hair and nail type"],"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"}]}}]}
