Incidentalome
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)

DEFINITIVE by Clingen for mono-allelic variants and isolated HCM.
More than 5 unrelated families reported with bi-allelic variants and more severe skeletal and cardiac cardiomyopathy.
Created: 12 Aug 2022, 2:50 a.m. | Last Modified: 12 Aug 2022, 2:50 a.m.

Panel Version: 0.173

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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

Publications

Created: 12 Aug 2022, 2:50 a.m.
Last Modified: 12 Aug 2022, 2:50 a.m.
Panel version: 0.173

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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

Tags

cardiac

OMIM

160781

Clinvar variants

Variants in MYL2

Penetrance

None

Publications

Panels with this gene