Inherited white matter disorders
Gene: MCOLN1

MCOLN1 (mucolipin 1)
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 16 panels

1 review

Sarah Leigh (Genomics England Curator)

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

Phenotypes
Mucolipidosis IV 252650

Publications

Created: 1 Sep 2016, 12:45 p.m.

Panel version: 0.455

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen
UKGTN
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Mucolipidosis IV 252650

OMIM

605248

Clinvar variants

Variants in MCOLN1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

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.

1 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MCOLN1 was created by sleigh

1 Sep 2016, Gel status: 4

Added New Source