Inherited white matter disorders
Gene: MLC1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS, more than 3 cases and different variants reported in OMIM in patients from different ethnicities. 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 Megalencephalic leukoencephalopathy with subcortical cysts (MLC). Green gene in the ID panel version 1.2.Created: 16 Aug 2016, 11:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts (MLC);General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for MLC1 were set to 25655951
This gene has been classified as Green List (High Evidence).
MLC1 was added to Inherited white matter disorderspanel. Sources: Expert list
MLC1 was created by [email protected]