Research panel - Severe Paediatric Disorders
Gene: ACTC1

ACTC1 (actin, alpha, cardiac muscle 1)
EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ACTC1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Atrial septal defect 5, 612794 (3) | Cardiomyopathy, dilated, 1R, 613424 (3) | Cardiomyopathy, hypertrophic, 11, 612098 (3) | Left ventricular noncompaction 4, 613424 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Left ventricular noncompaction 4, 613424
Atrial septal defect 5, 612794
Cardiomyopathy, dilated, 1R, 613424
Cardiomyopathy, hypertrophic, 11, 612098

OMIM

102540

Clinvar variants

Variants in ACTC1

Penetrance

None

Publications

30847515

Panels with this gene