FBN1 fibrillin 1

Gene info

Synonyms

MASS, OCTD, SGS

Previous symbol

FBN, MFS1, WMS

External ID

HGNC: 3603
Entrez Gene: 2200
Ensembl: ENSG00000166147
UCSC: uc001zwx.3
OMIM: 134797
UniProtKB: P35555

Disease info

CHD Phenotype

  • Aortic stenosis
  • Mitral valve prolapse
  • Mitral insufficiency
  • Tricuspid stenosis
  • Aortic valve insufficiency

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Heterozygous and homozygous null mice 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 FBN1: BED file

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Selected References

  1. Le Goff, C., Mahaut, C., Wang, L. W., Allali, S., Abhyankar, A., Jensen, S., … Cormier-Daire, V. (2011). Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias. The American Journal of Human Genetics, 89(1), 7–14. DOI:10.1016/j.ajhg.2011.05.012 PMID:21683322
  2. Wang, W.-J., Han, P., Zheng, J., Hu, F.-Y., Zhu, Y., Xie, J.-S., … Tian, X.-L. (2012). Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. Journal of Molecular Medicine, 91(1), 37–47. DOI:10.1007/s00109-012-0931-y PMID:22772377