Hyperthyroidism

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 14 panels

3 reviews

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

Green List (high evidence)

Phenotypes
Allan Herndon Dudley Syndrome

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.

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 list
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Other
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • 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
Tags
treatable
OMIM
300095
Clinvar variants
Variants in SLC16A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to expert reviews and further curation

15 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Mar 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

SLC16A2 was added to Resistance to thyroid hormonepanel. Sources: Eligibility statement prior genetic testing

16 Dec 2016, Gel status: 3

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Model of inheritance for gene SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

16 Dec 2016, Gel status: 3

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

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)

16 Dec 2016, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

SLC16A2 was added to Resistance to thyroid hormonepanel. Source: Other

16 Dec 2016, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

SLC16A2 was added to Resistance to thyroid hormonepanel. Source: Emory Genetics Laboratory

16 Dec 2016, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

SLC16A2 was added to Resistance to thyroid hormonepanel. Source: Radboud University Medical Center, Nijmegen

16 Dec 2016, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

SLC16A2 was added to Resistance to thyroid hormonepanel. Source: UKGTN

16 Dec 2016, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

SLC16A2 was added to Resistance to thyroid hormonepanel. Sources: Literature

16 Dec 2016, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SLC16A2 was created by LouiseD