New gene added by reviewer. Promoted to green status. There are >3 unrelated cases of patients with familial dysalbuminemic hyperthyroxinemia. Most common variants in patients are R218H/R218P/R218S or R222I, which are in exon 7. These variants have an increased affinity for T4. This results in laboratory findings of elevated total T4 and elevated or normal free T4, with normal TSH, although patients are clinically euthyroid. The diagnosis of familial dysalbuminemic hyperthyroxinemia has important implications for clinical management, as it prevents inappropriate treatment for hyperthyroidism.
Created: 11 Jul 2019, 12:43 p.m. | Last Modified: 11 Jul 2019, 12:43 p.m.
Panel Version: 1.8
Familial dysalbuminaemic hyperthyroxinaemia
gene: ALB was added gene: ALB was added to Hyperthyroidism. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALB were set to 29163366; 8064810; 24646103; 27834068 Phenotypes for gene: ALB were set to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999