Inherited white matter disorders

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)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY. More than 3 unrelated cases and different variants reported in OMIM for Allan-Herndon-Dudley syndrome. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Allan-Herndon-Dudley syndrome/Monocarboxylate transporter 8 deficiency (MCT8). Green on the ID panel version 1.2.
Created: 25 Aug 2016, 12:05 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_600

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
  • Allan-Herndon-Dudley syndrome
  • Monocarboxylate transporter 8 deficiency (MCT8)
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
OMIM
300095
Clinvar variants
Variants in SLC16A2
Penetrance
Complete
Publications
  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_524
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

25 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC16A2 were set to Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8);General Leukodystrophy & Mitochondrial Leukoencephalopathy

25 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC16A2 were set to Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Allan-Herndon-Dudley syndrome;Monocarboxylate transporter 8 deficiency (MCT8)

25 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

SLC16A2 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

SLC16A2 was created by [email protected]