Mucopolysaccharideosis, Gaucher, Fabry
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
2 reviews
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis type IV
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Reviewed internally. This is a confirmed DD gene for mucolipidosis IV and seems to have multiple mutations reported on OMIM. Some of these seem to be founder mutations in the Ashkenazi population (see below from OMIM), but there is also evidence in additional populations/ethnicities. PMID:10973263 reports a homozygous mutation in the gene in a patient with Arab-Druze ethnicity, PMID: 15523648 describes a patient of Canadian English/Scottish origin, and PMID: 17239335 describes "a white female with no known Jewish ancestors or consanguinity between the parental families”. This is therefore evidence in more than 3 unrelated families/cases.Created: 4 Mar 2016, 4:46 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Mucolipidosis, Type IV
- OMIM
- 605248
- Clinvar variants
- Variants in MCOLN1
- Penetrance
- Complete
- Panels with this gene
-
- Congenital muscular dystrophy
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Mucopolysaccharideosis, Gaucher, Fabry
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset leukodystrophy
- Lysosomal storage disorder
- Fetal anomalies
- Early onset dystonia
- Congenital myopathy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Retinal disorders
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
4 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
3 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)MCOLN1 was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services