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  3. MYL2
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Fetal anomalies

Gene: MYL2

Amber List (moderate evidence)
MYL2 (myosin light chain 2)
EnsemblGeneIds (GRCh38): ENSG00000111245
EnsemblGeneIds (GRCh37): ENSG00000111245
OMIM: 160781, Gene2Phenotype
MYL2 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in HCM, Paediatric or syndromic cardiomyopathy, congenital myopathy. Qin et al. One patient ? Heterozygous with scan features of distal joint contractures. Voges et al. HCM in 9 year old, inherited familial variant. Tran et al. Also a childhood onset CM in one case. Biallelic: Manivannan et al. 4sibs that died in infancy with CM, hypotonia, hepatomegaly, normal at birth. Weterman et al 13 infants from 9 families. No antenatal presentation. Tremor/clonus then a rapidly progressing muscle weakness and death by 6 months due to CM. Dilated, HCM, non compaction.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Cardiomyopathy, hypertrophic, 10

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, hypertrophic, 10
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
OMIM
160781
Clinvar variants
Variants in MYL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: MYL2 was added gene: MYL2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MYL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYL2 were set to 39831482 Phenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy