Congenital myopathy
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
Anna Sarkozy (Great Ormond Street Hospital)
lysosomal diseases, raised CK clinically overlapping phenotype with CM/CMDCreated: 22 May 2026, 1:49 p.m. | Last Modified: 22 May 2026, 1:49 p.m.
Panel Version: 7.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- NHS GMS
- OMIM
- 605248
- Clinvar variants
- Variants in MCOLN1
- Penetrance
- None
- Panels with this gene
-
- Congenital muscular dystrophy
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Hyperammonaemia
- Fetal anomalies
- Lysosomal storage disorder
- Retinal disorders
- Early onset dystonia
- Likely inborn error of metabolism
- Congenital myopathy
- Adult onset neurodegenerative disorder
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
22 May 2026, Gel status: 0
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: mcoln1 has been removed from the panel.
22 May 2026, Gel status: 1
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: MCOLN1 was added gene: MCOLN1 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal