SMAD6 SMAD family member 6

Gene info

Synonyms

HsT17432

Previous symbol

MADH7, MADH6

External ID

HGNC: 6772
Entrez Gene: 4091
Ensembl: ENSG00000137834
UCSC: uc002aqf.4
OMIM: 602931
UniProtKB: O43541

Disease info

Disease

CHD Phenotype

  • Aortic stenosis
  • Bicuspid aortic valve
  • Coarctation of the aorta
  • Mitral valve regurgitation

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

Homozygous null mouse has CHD, involved in chick cardiac development

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 SMAD6: BED file

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Selected References

  1. Tan, H. L., Glen, E., Töpf, A., Hall, D., O’Sullivan, J. J., Sneddon, L., … Keavney, B. D. (2012). Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation. Human Mutation, 33(4), 720–727. DOI:10.1002/humu.22030 PMID:22275001