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Cardiomyopathies - including childhood onset

Gene: ACTC1

Green List (high evidence)

ACTC1 (actin, alpha, cardiac muscle 1)
EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Rebecca Whittington (South West GLH)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Hypertrophic Cardiomyopathy
  • Cardiomyopathy, familial hypertrophic, 11
  • Cardiomyopathy, dilated, 1R
  • Left Ventricular Noncompaction Cardiomyopathy
  • Left ventricular noncompaction 4
OMIM
102540
Clinvar variants
Variants in ACTC1
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACTC1.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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