Hypertrophic cardiomyopathy - teen and adult

Gene: MYLK2

Amber List (moderate evidence)

MYLK2 (myosin light chain kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000101306
EnsemblGeneIds (GRCh37): ENSG00000101306
OMIM: 606566, Gene2Phenotype
MYLK2 is in 5 panels

5 reviews

James Eden (Manchester)

I don't know

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date, however including +1 splice and nonsense. 10 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: limited association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).
Created: 19 Sep 2019, 9:55 a.m. | Last Modified: 19 Sep 2019, 9:55 a.m.
Panel Version: 1.74

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

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

On current CGGL Royal Brompton diagnostic panel, but only VUS detected so far. Limited evidence for HCM association according to ClinGen. Need more evidence.
Created: 18 Sep 2019, 1:25 p.m. | Last Modified: 18 Sep 2019, 1:25 p.m.
Panel Version: 1.74

Publications

Rebecca Whittington (South West GLH)

I don't know

Cardiomyopathy, hypertrophic, 1, digenic (192600)
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 4 variants listed as DM all associated with HCM. 1 x nonsense, but seen with other variants in a sudden death case: Suktitipat (2017) PLoS One 12: e0180056 PubMed: 28704380. Functional evidence only according to: 10.1093/eurheartj/ehw603. Limited segregation evidence
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, digenic (192600)
  • Cardiomyopathy, hypertrophic, midventricular, digenic,
OMIM
606566
Clinvar variants
Variants in MYLK2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MYLK2. Mode of inheritance for gene MYLK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYLK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK2 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYLK2 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services