Left Ventricular Noncompaction Cardiomyopathy
Gene: ACTC1

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

2 reviews

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Lots of evidence in cardiomyopathy
Created: 11 Feb 2016, 1:19 p.m.

Created: 11 Feb 2016, 1:19 p.m.

Panel version: 0.1

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Left ventricular noncompaction 4
Left Ventricular Noncompaction Cardiomyopathy

OMIM

102540

Clinvar variants

Variants in ACTC1

Penetrance

Complete

Panels with this gene

History Filter Activity

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Feb 2016, Gel status: 2

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jul 2015, Gel status: 2