FLNA filamin A

Gene info

Synonyms

ABP-280

Previous symbol

FLN1, FLN, OPD2, OPD1

External ID

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

Disease info

CHD Phenotype

  • Atrial septal defect
  • Coarctation of the aorta
  • Double outlet right ventricle
  • Hypoplastic left ventricle
  • Mitral atresia
  • Persistent ductus arteriosus
  • Valve insufficiency
  • Mono-atrium

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Female mice heterozygous and male mice hemizygous for a single point mutation or null allele have CHD

MGI ID

Variant info

Clinvar

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 FLNA: BED file

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Selected References

  1. Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., … Schott, J.-J. (2007). Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy. Circulation, 115(1), 40–49. 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., … 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. 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. DOI:10.1007/s00392-010-0206-y PMID:20730588