Inherited white matter disorders
Gene: SLC16A2EnsemblGeneIds (GRCh38): ENSG00000147100
EnsemblGeneIds (GRCh37): ENSG00000147100
OMIM: 300095, Gene2Phenotype
SLC16A2 is in 13 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)
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
-
- Allan-Herndon-Dudley syndrome, OMIM:300523
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease
- Monocarboxylate transporter 8 deficiency (MCT8)
- 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
-
- Hereditary spastic paraplegia
- DDG2P
- Fetal anomalies
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Inherited white matter disorders
- Congenital hypothyroidism
- Hyperthyroidism
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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)
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.
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
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)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)SLC16A2 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)SLC16A2 was created by [email protected]