Paediatric disorders - additional genes
Gene: ACTC1
Comment on list classification: Promoted from Red to Green as this gene is on multiple cardio version 1+ panels.Created: 26 Nov 2019, 2:40 p.m. | Last Modified: 26 Nov 2019, 2:40 p.m.
Panel Version: 0.36
This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/).Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrial septal defect 5; Cardiomyopathy, dilated, 1R; Cardiomyopathy, hypertrophic, 11; Left ventricular noncompaction 4
Gene: actc1 has been classified as Green List (High Evidence).
Gene: actc1 has been classified as Red List (Low Evidence).
gene: ACTC1 was added gene: ACTC1 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTC1 were set to Atrial septal defect 5; Cardiomyopathy, hypertrophic, 11; Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4