Congenital myopathy
Gene: MYL2

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.
Panel version: 3.14

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.
Panel version: 2.32

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.

Panel version: 2.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYL2 were changed from infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy; Cardiomyopathy, hypertrophic, 10, OMIM:608758 to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424

1 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: MYL2.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to MYL2. Source NHS GMS was added to MYL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Jun 2021, Gel status: 2