Hypertrophic cardiomyopathy
Gene: MYH6
Cardiomyopathy, hypertrophic, 14 (613251 )Created: 25 Mar 2019, 4:30 p.m.
No - Cardiomyopathy, dilated, 1EE OMIM 613252 . Inheritance unknown (OMIM) Weak evidence according to 28082330. Not listed in 28369730Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Due to limited evidence for causation of Hypertrophic cardiomyopathy, the decision was made to demote this gene from Green to Red in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019.Created: 4 Mar 2019, 8:50 p.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.
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
Agree with Oxford review; this is not yet a well-established HCM gene and should not be mandated on standard panels.
More evidence is required.Created: 21 Nov 2017, 3:40 p.m.
Mode of inheritance
Unknown
Comment when marking as ready: On Manchester HCM diagnostic panel and DDG2PCreated: 11 Feb 2016, 3:08 p.m.
There is no robust evidence to support variants in this gene causing HCM. This gene should not be included in clinical HCM panels.Created: 17 Jan 2019, 5:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Publications for gene: MYH6 were set to 27532257; 22194935
Gene: myh6 has been classified as Red List (Low Evidence).
Gene: myh6 has been classified as Red List (Low Evidence).
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
Source London South GLH was added to MYH6.
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 30531895; 28082330 to 27532257; 22194935
Publications for gene: MYH6 were set to
Source Wessex and West Midlands GLH was added to MYH6. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
MYH6 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene MYH6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH6 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene MYH6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH6 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
MYH6 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services