Incidentalome
Gene: MYL2
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
DEFINITIVE by ClinGen HCM working group PMID: 30681346Created: 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
Gene: myl2 has been classified as Green List (High Evidence).
Tag cardiac tag was added to gene: MYL2.
Phenotypes for gene: MYL2 were changed from to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424; Cardiomyopathy, hypertrophic, 10, MIM# 608758
Publications for gene: MYL2 were set to
Mode of inheritance for gene: MYL2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
gene: MYL2 was added gene: MYL2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYL2 was set to Unknown