Cardiomyopathy_Paediatric
Gene: MYL2

MYL2 (myosin light chain 2)
EnsemblGeneIds (GRCh38): ENSG00000111245
EnsemblGeneIds (GRCh37): ENSG00000111245
OMIM: 160781, Gene2Phenotype
MYL2 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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. Two additional families reported in PMID 32453731 and 33731536
Created: 8 Aug 2021, 7:01 a.m. | Last Modified: 8 Aug 2021, 7:06 a.m.

Panel Version: 0.100

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424; Cardiomyopathy, hypertrophic, 10 608758

Publications

Created: 8 Aug 2021, 7:01 a.m.
Last Modified: 8 Aug 2021, 7:06 a.m.
Panel version: 0.100

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE by ClinGen HCM working group PMID: 30681346
Created: 19 Jun 2020, 2:38 p.m. | Last Modified: 19 Jun 2020, 2:38 p.m.

Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HCM

Publications

PMID: 30681346

Created: 19 Jun 2020, 2:38 p.m.
Last Modified: 19 Jun 2020, 2:38 p.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.28

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
London South GLH
South West GLH
NHS GMS

Phenotypes

Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424
Cardiomyopathy, hypertrophic, 10, MIM# 608758

OMIM

160781

Clinvar variants

Variants in MYL2

Penetrance

None

Publications

Panels with this gene