Hypertrophic cardiomyopathy

Gene: MYH6

Red List (low evidence)

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 28369730

Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

I don't know

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.

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: 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

• 22194935
• 27532257

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

Red List (low evidence)

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 DDG2P

Created: 11 Feb 2016, 3:08 p.m.

Red List (low evidence)

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 questioning role of this gene in HCM - PMID: 30531895
• PMID: 28082330