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Cardiomyopathies - including childhood onset

Gene: MYL2

Green List (high evidence)

MYL2 (myosin light chain 2)
EnsemblGeneIds (GRCh38): ENSG00000111245
EnsemblGeneIds (GRCh37): ENSG00000111245
OMIM: 160781, Gene2Phenotype
MYL2 is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Cardiomyopathy, hypertrophic, 10 OMIM#608758
Created: 25 Mar 2019, 4:30 p.m.
48 DM variants listed on HGMD -including in Walsh 2017. Also Alfares (2015) Genet Med 17: 880 PubMed: 25611685. Mainly HCM + others. Kabaeva Eur J Hum Genet. 2002 Nov;10(11):741-8: variant associated with paediatric onset HCM but also associated with adult onset disease.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 10
OMIM
160781
Clinvar variants
Variants in MYL2
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MYL2.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: MYL2 was added gene: MYL2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10