Congenital hypothyroidism

Gene: SLC16A2

Green List (high evidence)

SLC16A2 (solute carrier family 16 member 2)
EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • 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
Tags
treatable
OMIM
300095
Clinvar variants
Variants in SLC16A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2018, Gel status: 4

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: SLC16A2.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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