Inherited white matter disorders

Gene: MCOLN1

Green List (high evidence)

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

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

Sarah Leigh (Genomics England Curator)

MCOLN1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN