Molecular autopsy
Gene: ACTA1

ACTA1 (actin, alpha 1, skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 10 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

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.

Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London South GLH
Expert Review Amber

Phenotypes

Nemaline myopathy 3, autosomal dominant or recessive 161800
CMD with rigid spine
Hypertrophic cardiomyopathy
Myopathy, congenital, with fiber-type disproportion 1 255310
Dilated cardiomyopathy

OMIM

102610

Clinvar variants

Variants in ACTA1

Penetrance

None

Publications

doi:10. 1007/ s12265-016-9673-5
16945537

Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to ACTA1.

20 Dec 2018, Gel status: 2

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