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
Disease
CHD Phenotype
- Aortic stenosis
- Tricuspid stenosis
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.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for FBN1: BED file
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Selected References
- Le Goff, C., Mahaut, C., Wang, L. W., Allali, S., Abhyankar, A., Jensen, S., Zylberberg, L., Collod-Beroud, G., Bonnet, D., Alanay, Y., Brady, A. F., Cordier, M.-P., Devriendt, K., Genevieve, D., Kiper, P. Ö. S., Kitoh, H., Krakow, D., Lynch, S. A., Le Merrer, M., … 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. https://doi.org/10.1016/j.ajhg.2011.05.012 DOI:10.1016/j.ajhg.2011.05.012 PMID:21683322
- Wang, W.-J., Han, P., Zheng, J., Hu, F.-Y., Zhu, Y., Xie, J.-S., Guo, J., Zhang, Z., Dong, J., Zheng, G.-Y., Cao, H., Liu, T.-S., Fu, Q., Sun, L., Yang, B.-B., & 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. https://doi.org/10.1007/s00109-012-0931-y DOI:10.1007/s00109-012-0931-y PMID:22772377