Previous cardiomyopathies - including childhood onset
Gene: MYH7
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.
Core HCM/DCM gene. Associated with paediatric cardiomyopathy in the literature including Pugh (2014) Genet Med 16, 601. Experience in the lab of at least 7 cases of paediatric onset cardiomyopathy with a likely pathogenic/pathogenic variant in the MYH7 gene. Four of these were found to have arisen denovo.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
Source London South GLH was added to MYH7.
Source South West GLH was added to MYH7. Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Eleanor Williams: Comment on publications: Addin
Added phenotypes Cardiomyopathy, dilated, 1S for gene: MYH7
Added phenotypes Left ventricular noncompaction 5; Hypertrophic cardiomyopathy for gene: MYH7
gene: MYH7 was added gene: MYH7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH7 were set to Cardiomyopathy, familial hypertrophic, 1,