Dilated Cardiomyopathy and conduction defects

Gene: MYH7

Comment on mode of inheritance: Association with monoallelic variants is well-established. To date, only four families have been reported with recessive variants (PMIDs: 14659406; 25666907; 17372140; 31130376). Of these, one family developed dilated cardiomyopathy and one had hypertrophic cardiomyopathy, while cardiac function was normal in the remaining two families. Therefore, maintaining MOI of monoallelic only at this time but with a watchlist_moi tag to monitor for evidence linking biallelic variants linked to DCM.

Created: 10 Oct 2022, 1:16 p.m. | Last Modified: 10 Oct 2022, 1:19 p.m.

Panel Version: 1.81

MOI was corrected.

Created: 30 Sep 2019, 11:49 a.m. | Last Modified: 30 Sep 2019, 11:49 a.m.

Panel Version: 1.60

Green List (high evidence)

Cardiomyopathy, dilated, 1S OMIM#613426; Cardiomyopathy, hypertrophic, 1 OMIM#192600; Laing distal myopathy OMIM#160500; Left ventricular noncompaction 5 OMIM#613426; Myopathy, myosin storage, autosomal dominant OMIM#608358; Myopathy, myosin storage, autosomal recessive OMIM#255160; Scapuloperoneal syndrome, myopathic type OMIM#181430.

Created: 25 Mar 2019, 4:30 p.m.

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) and Pugh (2014) Genet Med 16, 601.

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

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

I don't know

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.

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: currently no stated association with DCM, definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, hypertrophic, 1 (192600); Laing distal myopathy (160500); Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Myopathy, myosin storage, autosomal recessive (255160); Scapuloperoneal syndrome, myopathic type (181430)

Publications

• 20186049
• 27532257

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

Comment when marking as ready: On Manchester diagnostic panel

Created: 14 Feb 2016, 4:19 p.m.

Green List (high evidence)