FLNA filamin A

Gene info

Synonyms

actin binding protein 280|alpha filamin

Previous symbol

FLN1|FLN|OPD2|OPD1

External ID

HGNC: 3754
Entrez Gene: 2316
Ensembl: ENSG00000196924
UCSC: uc010nuu.1
OMIM: 300017
UniProtKB: P21333

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Patent ductus arteriosus
  • Atrioventricular septal defect
  • Coarctation of the aorta
  • Double outlet right ventricle
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

95556

Variant info

Clinvar

FLNA

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Genome browser powered by igv.js

Selected References

  1. Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., Newbury-Ecob, R., Tran, V., Young, I., Trochu, J.-N., Le Marec, H., & Schott, J.-J. (2007). Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy. Circulation, 115(1), 40–49. https://doi.org/10.1161/circulationaha.106.622621 DOI:10.1161/CIRCULATIONAHA.106.622621 PMID:17190868
  2. Oegema, R., Hulst, J. M., Theuns‐Valks, S. D. M., van Unen, L. M. A., Schot, R., Mancini, G. M. S., Schipper, M. E. I., de Wit, M. C. Y., Sibbles, B. J., de Coo, I. F. M., Nanninga, V., Hofstra, R. M. W., Halley, D. J. J., & Brooks, A. S. (2013). Novel no‐stop FLNA mutation causes multi‐organ involvement in males. American Journal of Medical Genetics Part A, 161(9), 2376–2384. Portico. https://doi.org/10.1002/ajmg.a.36109 DOI:10.1002/ajmg.a.36109 PMID:23873601
  3. de Wit, M. C. Y., de Coo, I. F. M., Lequin, M. H., Halley, D. J. J., Roos-Hesselink, J. W., & Mancini, G. M. S. (2010). Combined cardiological and neurological abnormalities due to filamin A gene mutation. Clinical Research in Cardiology, 100(1), 45–50. https://doi.org/10.1007/s00392-010-0206-y DOI:10.1007/s00392-010-0206-y PMID:20730588