{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["dJ422F24.1","DEHAL1"],"biotype":"protein_coding","hgnc_id":"HGNC:21071","gene_name":"iodotyrosine deiodinase","omim_gene":["612025"],"alias_name":null,"gene_symbol":"IYD","hgnc_symbol":"IYD","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:150690028-150727105","ensembl_id":"ENSG00000009765"}},"GRch38":{"90":{"location":"6:150368892-150405969","ensembl_id":"ENSG00000009765"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"IYD","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families","PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. A 4.5-yr-old unaffected sister was found homozygous for the mutation","24629858 (Review)","18765512"],"evidence":["Expert Review Green","Other","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Congenital hypothyroidism","Thyroid dyshormonogenesis 4, 274800","goitre","childhood/adolescent onset hypothyroidism","normal iodide organification","raised urinary MIT and DIT"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"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."}]}}]}