Inherited white matter disorders
Gene: SLC16A2Comment 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.
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
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SLC16A2 were changed from Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Allan-Herndon-Dudley syndrome, OMIM:300523; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Monocarboxylate transporter 8 deficiency (MCT8)
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Phenotypes for SLC16A2 were set to Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8);General Leukodystrophy & Mitochondrial Leukoencephalopathy
Phenotypes for SLC16A2 were set to Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease; Allan-Herndon-Dudley syndrome;Monocarboxylate transporter 8 deficiency (MCT8)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SLC16A2 was added to Inherited white matter disorderspanel. Sources: Expert list
SLC16A2 was created by [email protected]