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  3. MYLK2
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Molecular autopsy

Gene: MYLK2

Amber List (moderate evidence)
MYLK2 (myosin light chain kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000101306
EnsemblGeneIds (GRCh37): ENSG00000101306
OMIM: 606566, Gene2Phenotype
MYLK2 is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 10 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, hypertrophic, 1, digenic (192600)

Publications

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

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • North West GLH
  • Expert Review Amber
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, digenic (192600)
  • Cardiomyopathy, hypertrophic, midventricular, digenic,
OMIM
606566
Clinvar variants
Variants in MYLK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to MYLK2.

14 Feb 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to MYLK2. Added phenotypes Cardiomyopathy, hypertrophic, 1, digenic (192600) for gene: MYLK2 Publications for gene MYLK2 were changed from to 27532257; 28369730

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: MYLK2 was added gene: MYLK2 was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: MYLK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic, midventricular, digenic,