Familial non syndromic congenital heart disease
Gene: ACTC1EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 13 panels
2 reviews
Helen Brittain (Genomics England Curator)
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)
Most associated with cardiomyopathy but identified in ASD in four families.
Not recognised on G2PCreated: 28 Nov 2016, 4:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Atrial septal defect 5, 612794
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Atrial septal defect 5, 612794
- OMIM
- 102540
- Clinvar variants
- Variants in ACTC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Laterality disorders and isomerism
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Paediatric disorders - additional genes
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
Created
Alice Gardham (Genomics England)ACTC1 was created by agardham
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