This Panel is marked as Internal
Isomerism and laterality disorders
Gene: ACTC1
ACTC1 (actin, alpha, cardiac muscle 1)
EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Atrial septal defect
- Atrial septal defect 5, 612794
- OMIM
- 102540
- Clinvar variants
- Variants in ACTC1
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Laterality disorders and isomerism
- Paediatric disorders - additional genes
- Left Ventricular Noncompaction Cardiomyopathy
- Familial non syndromic congenital heart disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
16 May 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)ACTC1 was added to Isomerism and laterality disorderspanel. Source: Radboud University Medical Center, Nijmegen
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ACTC1 was added to Isomerism and laterality disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ACTC1 was created by ellenmcdonagh