Congenital myopathy
Gene: MYL2
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
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 JapanCreated: 28 Jun 2021, 2:46 p.m. | Last Modified: 28 Jun 2021, 2:46 p.m.
Panel Version: 2.32
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 listCreated: 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
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
Tag Q2_21_rating was removed from gene: MYL2.
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)
Gene: myl2 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: MYL2.
Publications for gene: MYL2 were set to 23365102; 27378946; 33731536
Publications for gene: MYL2 were set to 23365102; 27378946
Phenotypes for gene: MYL2 were changed from infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy to infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy; Cardiomyopathy, hypertrophic, 10, OMIM:608758
gene: MYL2 was added gene: MYL2 was added to Congenital myopathy. Sources: Expert list Mode of inheritance for gene: MYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL2 were set to 23365102; 27378946 Phenotypes for gene: MYL2 were set to infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy Review for gene: MYL2 was set to AMBER