Dilated and arrhythmogenic cardiomyopathy
Gene: ACTC1
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Amber to Green as the group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
On CGGL Royal Brompton panel. Pathogenic variants detected in LVNC referrals so far, appropriate here therefore sue to phenotypic overlap PMID 27532257 demonstrates excess of variants in DCM cohort.Created: 19 Sep 2019, 10:53 p.m. | Last Modified: 19 Sep 2019, 10:53 p.m.
Panel Version: 0.44
Publications
Variants in this GENE are reported as part of current diagnostic practice
OMIM#613424: Cardiomyopathy dilated 12; OMIM#612098 Cardiomyopathy, familial hypertrophyCreated: 25 Mar 2019, 4:30 p.m.
Reported by Augire et al (2015) PLoS ONE 10(6):e0127903 tracking in six family members with ASD but some DCM also. 12 variants on HGMD - 7 classed as DM in a number of literature reviews including Dal Ferro 2017. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.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
Comment on list classification: This gene appears on 3/4 gene lists submitted from GLHs, however has several Red reviews from these labs and therefore demoted to Amber for further discussion.Created: 24 Mar 2019, 10:15 a.m.
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.
Gene currently tested on Manchester cardiac gene panel. 66 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: no stated association with DCM, definitive association with HCM (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 5 (612794); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, hypertrophic, 11 (612098); Left ventricular noncompaction 4 (613424)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: On Manchester diagnostic panelCreated: 14 Feb 2016, 4:12 p.m.
Source Expert Review Green was added to ACTC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: actc1 has been classified as Amber List (Moderate Evidence).
gene: ACTC1 was added gene: ACTC1 was added to Dilated cardiomyopathy - adult and teen. Sources: Emory Genetics Laboratory,Expert list,North West GLH,Expert Review Green,London South GLH,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,South West GLH,UKGTN Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTC1 were set to 26061005; 27532257 Phenotypes for gene: ACTC1 were set to Cardiomyopathy, hypertrophic, 11 (612098); Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, dilated, 1R; Atrial septal defect 5 (612794)