Hyperthyroidism
Gene: SLC16A2

SLC16A2 (solute carrier family 16 member 2)
EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 panels

3 reviews

krishna chatterjee (Institute of Metabolic Science, University of Cambridge)

Green List (high evidence)

Phenotypes
Allan Herndon Dudley Syndrome

Created: 11 Jul 2019, 12:43 p.m.
Last Modified: 11 Jul 2019, 12:43 p.m.
Panel version: 1.8

Ellen McDonagh (Genomics England Curator)

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.

Created: 8 Aug 2018, 7:52 a.m.

Panel version: 1.4

Louise Daugherty (Genomics England Curator)

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

Created: 15 Mar 2017, 12:23 p.m.

Panel version: 0.15

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert list
Expert Review Green
Eligibility statement prior genetic testing
Other
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
UKGTN
Literature

Phenotypes

Allan-Herndon-Dudley syndrome, OMIM:300523

Tags

treatable

OMIM

300095

Clinvar variants

Variants in SLC16A2

Penetrance

Complete

Publications

24847459

Panels with this gene

History Filter Activity

24 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

11 Jul 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source Expert list was added to SLC16A2.

15 Mar 2017, Gel status: 4