Dilated Cardiomyopathy and conduction defects

Gene: MYH6

Green List (high evidence)

MYH6 (myosin heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 13 panels

6 reviews

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

Red List (low evidence)

Currently on Royal Brompton diagnostic panel but under review. No pathogenic or likely pathogenic variants reported to date, several VUs reported but no further segregation evidence.
Low evidence for DCM role in Walsh et al (2017) 27532257.
No DCM association in ClinGen Knowledge Base
Created: 12 Apr 2019, 2:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Rebecca Whittington (South West GLH)

Green List (high evidence)

Atrial septal defect 3 OMIM#614089; Cardiomyopathy, dilated, 1EE OMIM#613252; Cardiomyopathy, hypertrophic, 14 OMIM#613251; {Sick sinus syndrome 3} OMIM#614090
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients).
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

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.

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 130 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: no stated association with DCM, limited association with hypertrophic cardiomyopathy (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Atrial septal defect 3 (614089); Cardiomyopathy, dilated, 1EE (613252); Cardiomyopathy, hypertrophic, 14 (613251); {Sick sinus syndrome 3} (614090)

Publications

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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel and DDG2P
Created: 14 Feb 2016, 4:19 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiomyopathy, dilated, 1EE (613252)
  • Atrial septal defect 3 (614089)
  • {Sick sinus syndrome 3} (614090)
  • Cardiomyopathy, hypertrophic, 14 (613251)
  • Cardiomyopathy, dilated, 1EE
OMIM
160710
Clinvar variants
Variants in MYH6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MYH6. Mode of inheritance for gene MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to MYH6.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to MYH6. Added phenotypes Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Cardiomyopathy, hypertrophic, 14 (613251); Atrial septal defect 3 (614089) for gene: MYH6 Publications for gene MYH6 were changed from to 15998695; 27532257 Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYH6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH6 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN

14 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYH6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH6 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN

14 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYH6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH6 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MYH6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH6 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH6 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list,UKGTN