ACTC1 actin alpha cardiac muscle 1

Gene info

Synonyms

CMD1R

Previous symbol

ACTC

External ID

HGNC: 143
Entrez Gene: 70
Ensembl: ENSG00000159251
UCSC: uc001ziu.2
OMIM: 102540
UniProtKB: P68032

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect

Extra Cardiac Phenotype

cleft palate

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD

MGI ID

87905

Variant info

Clinvar

ACTC1

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for ACTC1: BED file

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Selected References

  1. Olson, T. M., Doan, T. P., Kishimoto, N. Y., Whitby, F. G., Ackerman, M. J., & Fananapazir, L. (2000). Inherited and de novo Mutations in the Cardiac Actin Gene Cause Hypertrophic Cardiomyopathy. Journal of Molecular and Cellular Cardiology, 32(9), 1687–1694. https://doi.org/10.1006/jmcc.2000.1204 DOI:10.1006/jmcc.2000.1204 PMID:10966831
  2. Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., & Castro-Beiras, A. (2007). Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. European Heart Journal, 28(16), 1953–1961. https://doi.org/10.1093/eurheartj/ehm239 DOI:10.1093/eurheartj/ehm239 PMID:17611253
  3. Matsson, H., Eason, J., Bookwalter, C. S., Klar, J., Gustavsson, P., Sunnegårdh, J., Enell, H., Jonzon, A., Vikkula, M., Gutierrez, I., Granados-Riveron, J., Pope, M., Bu’Lock, F., Cox, J., Robinson, T. E., Song, F., Brook, D. J., Marston, S., Trybus, K. M., & Dahl, N. (2007). Alpha-cardiac actin mutations produce atrial septal defects. Human Molecular Genetics, 17(2), 256–265. https://doi.org/10.1093/hmg/ddm302 DOI:10.1093/hmg/ddm302 PMID:17947298