Inherited white matter disordersGene: MCOLN1
Associated with phenotype in OMIM and G2P / DD. At least nine variants reported. Included in Update on Leukodystrophies: A Historical Perspective and Adapted Definition (PMID 27564080). Publications: PMID 26926398 and PMID 26597493 advocate inclusion of Mucolipidosis IV as a differential diagnosis for inherited white matter disorders.
Created: 1 Sep 2016, 12:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mucolipidosis IV 252650
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
MCOLN1 was created by sleigh
MCOLN1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN