Congenital hypothyroidismGene: SLC16A2
To expand the scope of the Congenital hypothyroidism panel, this gene was added and the version changed to 1.8. This gene and information originates from the Hyperthyroidism panel (Version 1.6, code 236). This addition was approved by the Genomics England Clinical Team.
Created: 19 Dec 2018, 1:21 p.m.
Added the 'treatable' tag to this gene, after feedback from Krish Chatterjee and Carla Moran, Institute of Metabolic Science, Cambridge; TRIAC (a thyroid hormone analogue) can be used as a treatment for Allan-Herndon Dudley syndrome due to defects in SLC16A2: comment imported from the Hyperthyroidism panel.
Created: 8 Aug 2018, 7:52 a.m.
Report variants in this gene as part of diagnostic practice : Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge (From expert review Krishna Chatterjee and Carla Moran)
Created: 15 Mar 2017, 4:49 p.m.
Comment when marking as ready: gene has been assessed for involvement in Resistance to thyroid hormone according to expert reviews and further curation
Created: 15 Mar 2017, 3:47 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag treatable tag was added to gene: SLC16A2.
gene: SLC16A2 was added gene: SLC16A2 was added to Congenital hypothyroidism. Sources: Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 24847459 Phenotypes for gene: SLC16A2 were set to MENTAL RETARDATION AND MUSCULAR ATROPHY; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; monocarboxylate transporter 8 (MCT8) deficiency; ALLAN-HERNDON SYNDROME; Monocarboxylate transporter 8 (MCT8) defect; Allan-Herndon-Dudley syndrome; AHDS; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; Allan_Herndon_Dudley Syndrome; mental retardation, X-linked, with hypotonia; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; Allan-Herndon-Dudley Syndrome; T3 RESISTANCE; TRIIODOTHYRONINE RESISTANCE; 300523; Allan-Herndon-Dudley syndrome, 300523; ALLAN-HERNDON-DUDLEY SYNDROME