{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["P138-TOX","P138(TOX)","THOX2","LNOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:13273","gene_name":"dual oxidase 2","omim_gene":["606759"],"alias_name":["dual oxidase-like domains 2","nicotinamide adenine dinucleotide phosphate oxidase","flavoprotein NADPH oxidase","NADPH thyroid oxidase 2","NADH/NADPH thyroid oxidase p138-tox","NADPH oxidase/peroxidase DUOX2"],"gene_symbol":"DUOX2","hgnc_symbol":"DUOX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:45384848-45406542","ensembl_id":"ENSG00000140279"}},"GRch38":{"90":{"location":"15:45092650-45114344","ensembl_id":"ENSG00000140279"}}},"hgnc_date_symbol_changed":"2000-11-09"},"entity_type":"gene","entity_name":"DUOX2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12110737","24423310","16134168","27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease","27166716"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Congenital hypothyroidism","Thryoid dyshormonogenesis 6, 607200","permanent congenital hypothyroidism","transient congenital hypothyroidism","eutopic gland-in-situ","goitre","borderline congenital hypothyroidism","iodide organification defect"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":["monogenic-polygenic"],"panel":{"id":31,"hash_id":"5763f2938f620350a1996046","name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","status":"public","version":"2.0","version_created":"2019-07-31T13:52:41.584963Z","relevant_disorders":["Congenital hypothyroidism or thyroid agenesis","R145"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}