Inherited white matter disorders
Gene: MLC1

MLC1 (megalencephalic leukoencephalopathy with subcortical cysts 1)
EnsemblGeneIds (GRCh38): ENSG00000100427
EnsemblGeneIds (GRCh37): ENSG00000100427
OMIM: 605908, Gene2Phenotype
MLC1 is in 6 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 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.

Created: 16 Aug 2016, 11:40 a.m.

Panel version: 0.254

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_630

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

Created: 4 Aug 2016, 2:35 p.m.

Panel version: 0.106

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
General Leukodystrophy & Mitochondrial Leukoencephalopathy

OMIM

605908

Clinvar variants

Variants in MLC1

Penetrance

Complete

Publications

25655951

Panels with this gene