Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: MYL2EnsemblGeneIds (GRCh38): ENSG00000111245
EnsemblGeneIds (GRCh37): ENSG00000111245
OMIM: 160781, Gene2Phenotype
MYL2 is in 9 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
Onset is in the first few weeks of life.
Typical features include hypotrophy of skeletal and cardiac muscle
PMID: 23365102; 9673982
13 affected individuals from 6 unrelated family with progressive muscle weakness and cardiomyopathy
Sources: OtherCreated: 9 May 2023, 11:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 33731536Created: 3 Jun 2020, 8:57 a.m. | Last Modified: 8 Aug 2021, 7:05 a.m.
Panel Version: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424; infantile muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Phenotypes
-
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424)
- OMIM
- 160781
- Clinvar variants
- Variants in MYL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: myl2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: myl2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: MYL2 was added gene: MYL2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: MYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL2 were set to 23365102; 9673982 Phenotypes for gene: MYL2 were set to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Review for gene: MYL2 was set to GREEN