This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: MCOLN1
MCOLN1 (mucolipin 1)
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 16 panels
1 review
Emily Jones (North Bristol NHS Trust)
PMID 29449188 descibes a single family with dystonia/ataxia only. Movement disorder can be a feature of Mucolipidosis.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Mucolipidosis IV, 252650
- OMIM
- 605248
- Clinvar variants
- Variants in MCOLN1
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Lysosomal storage disorder
- Adult onset neurodegenerative disorder
- Retinal disorders
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene MCOLN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to MCOLN1.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: MCOLN1 was added gene: MCOLN1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: MCOLN1 was set to