Dilated Cardiomyopathy and conduction defects
Gene: MYH6EnsemblGeneIds (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)
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 BaseCreated: 12 Apr 2019, 2:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Rebecca Whittington (South West GLH)
Atrial septal defect 3 OMIM#614089; Cardiomyopathy, dilated, 1EE OMIM#613252; Cardiomyopathy, hypertrophic, 14 OMIM#613251; {Sick sinus syndrome 3} OMIM#614090Created: 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)
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)
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 DDG2PCreated: 14 Feb 2016, 4:19 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
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
-
- Laterality disorders and isomerism
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
- Hereditary neuropathy or pain disorder
History Filter Activity
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
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to MYH6.
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)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
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
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