TGFBR1 transforming growth factor beta receptor 1

Gene info

Synonyms

ALK-5, ACVRLK4, ALK5, TBRI, TBR-i

Previous symbol

MSSE, ESS1

External ID

HGNC: 11772
Entrez Gene: 7046
Ensembl: ENSG00000106799
UCSC: uc004azc.4
OMIM: 190181
UniProtKB: P36897

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Mitral valve prolapse
  • Persistent ductus arteriosus

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Cardiovascular defects, but no CHD in null mice

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 TGFBR1: BED file

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Selected References

  1. Singh, K. K., Rommel, K., Mishra, A., Karck, M., Haverich, A., Schmidtke, J., & Arslan-Kirchner, M. (2006). TGFBR1andTGFBR2mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Human Mutation, 27(8), 770–777. DOI:10.1002/humu.20354 PMID:16799921
  2. Loeys, B. L., Chen, J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., … Dietz, H. C. (2005). A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics, 37(3), 275–281. DOI:10.1038/ng1511 PMID:15731757