Inherited white matter disorders
Gene: MCOLN1
MCOLN1 (mucolipin 1)
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 18 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
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
-
- Retinal disorders
- Congenital muscular dystrophy
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Lysosomal storage disorder
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Inherited white matter disorders
- Hyperammonaemia
- Fetal anomalies
- Congenital myopathy
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- DDG2P
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