Paediatric or syndromic cardiomyopathy
Gene: MYH6
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Atrial septal defect 3 OMIM#614089; Cardiomyopathy, dilated, 1EE OMIM#613252; Cardiomyopathy, hypertrophic, 14 OMIM#613251; {Sick sinus syndrome 3} OMIM#614090Created: 25 Mar 2019, 4:30 p.m.
HGMD: 31 variants assoc with DCM only 10 DM. 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). Paediatric onset CHD such as ASD and VSD is reported with this gene but cardiomyopathy reported with this gene is mainly adult onset.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: MYH6 were set to
Phenotypes for gene: MYH6 were changed from Cardiomyopathy, dilated, 1EE; Cardiomyopathy, familial hypertrophic, 14 to Atrial septal defect 3, OMIM:614089; Cardiomyopathy, dilated, 1EE OMIM:613252; Cardiomyopathy, hypertrophic, 14, OMIM:613251; {Sick sinus syndrome 3}, OMIM:614090
Source NHS GMS was added to MYH6.
gene: MYH6 was added gene: MYH6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH6 were set to Cardiomyopathy, dilated, 1EE; Cardiomyopathy, familial hypertrophic, 14