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  2. Congenital muscular dystrophy and congenital myopathy
  3. MYL2
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: MYL2

Green List (high evidence)
MYL2 (myosin light chain 2)
EnsemblGeneIds (GRCh38): ENSG00000111245
EnsemblGeneIds (GRCh37): ENSG00000111245
OMIM: 160781, Gene2Phenotype
MYL2 is in 7 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:10 p.m.
Panel Version: 3.14
Created: 1 Feb 2023, 5:10 p.m.
Last Modified: 1 Feb 2023, 5:10 p.m.
Copied from panel: Congenital myopathy v3.73

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a variant in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 28 Jun 2021, 2:48 p.m. | Last Modified: 28 Jun 2021, 2:48 p.m.
Panel Version: 2.33
Comment on publications: PMID:33731536 third case from Japan
Created: 28 Jun 2021, 2:46 p.m. | Last Modified: 28 Jun 2021, 2:46 p.m.
Panel Version: 2.32
Created: 28 Jun 2021, 2:46 p.m.
Last Modified: 28 Jun 2021, 2:46 p.m.
Copied from panel: Congenital myopathy v3.73

Zornitza Stark (Australian Genomics)

I don't know

Monoallelic variants in this gene are a well established as a cause of cardiomyopathy. Thirteen infants from 9 families reported with bi-allelic variants in last exon and an infantile skeletal myopathy/DCM phenotype. Dutch families all had same founder variant; one Italian family had two different variants.
Sources: Expert list
Created: 3 Jun 2020, 8:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy

Publications

Created: 3 Jun 2020, 8:59 a.m.

Copied from panel: Congenital myopathy v3.73

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NHS GMS
Phenotypes
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424
OMIM
160781
Clinvar variants
Variants in MYL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: MYL2 was added gene: MYL2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: MYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL2 were set to 23365102; 27378946; 33731536 Phenotypes for gene: MYL2 were set to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424