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FXN_GAA 3

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Hypertrophic cardiomyopathy
Gene: MYLK2

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

6 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.

Panel Version: 1.81

Created: 2 Dec 2019, 11:26 a.m.
Last Modified: 2 Dec 2019, 11:26 a.m.
Panel version: 1.81

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

Created: 19 Sep 2019, 9:55 a.m.
Last Modified: 19 Sep 2019, 9:55 a.m.
Panel version: 1.74

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

30681346

Created: 18 Sep 2019, 1:25 p.m.
Last Modified: 18 Sep 2019, 1:25 p.m.
Panel version: 1.74

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.53

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: 1.44

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:11 p.m.

Panel version: 0.0

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

2 Dec 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYLK2 were set to 27532257; 28369730

21 Feb 2019, Gel status: 2