Familial non syndromic congenital heart disease

Gene: ACTC1

Amber List (moderate evidence)

ACTC1 (actin, alpha, cardiac muscle 1)
EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 12 panels

2 reviews

Helen Brittain (Genomics England Curator)

I don't know

Two families reported with isolated cardiac malformations (ASD). Not considered sufficient evidence for inclusion.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Atrial septal defect; Atrial septal defect 5, 612794

Publications

Alice Gardham (Genomics England)

I don't know

Most associated with cardiomyopathy but identified in ASD in four families.
Not recognised on G2P
Created: 28 Nov 2016, 4:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 5, 612794

Publications

History Filter Activity

26 Jan 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ACTC1 was created by agardham

28 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

ACTC1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen