Sudden cardiac death - previous panel
Gene: MYH6EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 11 panels
2 reviews
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: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, dilated, 1EE (613252)
- Cardiomyopathy, familial hypertrophic, 14
- 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
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Laterality disorders and isomerism
- Familial non syndromic congenital heart disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- DDG2P
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MYH6 was added gene: MYH6 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH6 were set to 27532257; 15998695; 22194935 Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated, 1EE (613252); Cardiomyopathy, familial hypertrophic, 14; Atrial septal defect 3 (614089); {Sick sinus syndrome 3} (614090); Cardiomyopathy, hypertrophic, 14 (613251); Cardiomyopathy, dilated, 1EE