Hypertrophic cardiomyopathy
Gene: MYLK2
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
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
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
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 evidenceCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Publications for gene: MYLK2 were set to 27532257; 28369730
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
Source London South GLH was added to MYLK2.
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
MYLK2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene MYLK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYLK2 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
MYLK2 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services