Cardiomyopathies - including childhood onsetGene: ACTC1
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
OMIM#613424: Cardiomyopathy dilated 12; OMIM#612098 Cardiomyopathy, familial hypertrophy
Created: 25 Mar 2019, 4:30 p.m.
Augire et al (2015) PLoS ONE 10(6):e0127903 tracking in six family members with ASD but some DCM also. Dal Ferro 2017. Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601. Olson J. Molec. Cell Cardiol. 32: 1687-1694 and many other reports of paediatric onset cardiomyopathy.
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
Source NHS GMS was added to ACTC1.
gene: ACTC1 was added gene: ACTC1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTC1 were set to Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11; Cardiomyopathy, dilated, 1R; Left Ventricular Noncompaction Cardiomyopathy; Left ventricular noncompaction 4