Hyperthyroidism
Gene: SLC16A2
Phenotypes
Allan Herndon Dudley Syndrome
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.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 curationCreated: 15 Mar 2017, 3:47 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SLC16A2 were changed from Monocarboxylate transporter 8 (MCT8) defect; Allan-Herndon-Dudley syndrome; Allan_Herndon_Dudley Syndrome; AHDS; 300523; Allan-Herndon-Dudley syndrome, 300523; Allan-Herndon-Dudley Syndrome; ALLAN-HERNDON-DUDLEY SYNDROME; ALLAN-HERNDON SYNDROME; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY; TRIIODOTHYRONINE RESISTANCE; T3 RESISTANCE; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA; MENTAL RETARDATION AND MUSCULAR ATROPHY; mental retardation, X-linked, with hypotonia; MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency; monocarboxylate transporter 8 (MCT8) deficiency to Allan-Herndon-Dudley syndrome, OMIM:300523
Source Expert list was added to SLC16A2.
Panel reviews were assessed, and panel was revised according to expert reviews and further curation
This gene has been classified as Green List (High Evidence).
SLC16A2 was added to Resistance to thyroid hormonepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Model of inheritance for gene SLC16A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
SLC16A2 was added to Resistance to thyroid hormonepanel. Source: Other
SLC16A2 was added to Resistance to thyroid hormonepanel. Source: Emory Genetics Laboratory
SLC16A2 was added to Resistance to thyroid hormonepanel. Source: Radboud University Medical Center, Nijmegen
SLC16A2 was added to Resistance to thyroid hormonepanel. Source: UKGTN
SLC16A2 was added to Resistance to thyroid hormonepanel. Sources: Literature
SLC16A2 was created by LouiseD