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  3. MYH6
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Dilated and arrhythmogenic cardiomyopathy

Gene: MYH6

Amber List (moderate evidence)
MYH6 (myosin heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 11 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

Created: 12 Apr 2019, 2:11 p.m.

Panel version: Imported from Dilated Cardiomyopathy and conduction defects panel version 1.55

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

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

Panel version: Imported from Dilated Cardiomyopathy and conduction defects panel version 1.55

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.
Created: 24 Mar 2019, 10:21 a.m.
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: Imported from Dilated cardiomyopathy - teen and adult panel version 1.46

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

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

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 1.44

Caroline Wright (Genomics England Curator)

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

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 0.5

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Created: 6 Jan 2016, 5:12 p.m.

Panel version: Imported from Dilated cardiomyopathy - teen and adult panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • UKGTN
  • South West GLH
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Cardiomyopathy, hypertrophic, 14 (613251)
  • Cardiomyopathy, dilated, 1EE (613252)
  • {Sick sinus syndrome 3} (614090)
  • Atrial septal defect 3 (614089)
  • Cardiomyopathy, dilated, 1EE
OMIM
160710
Clinvar variants
Variants in MYH6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: myh6 has been classified as Amber List (Moderate Evidence).

24 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: myh6 has been classified as Green List (High Evidence).

8 Mar 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MYH6 was added gene: MYH6 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH6 were set to 15998695; 27532257 Phenotypes for gene: MYH6 were set to Cardiomyopathy, hypertrophic, 14 (613251); Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Atrial septal defect 3 (614089); Cardiomyopathy, dilated, 1EE