SMG9 SMG9 nonsense mediated mRNA decay factor

Gene info

Synonyms

FLJ12886

Previous symbol

C19orf61

External ID

HGNC: 25763
Entrez Gene: 56006
Ensembl: ENSG00000105771
UCSC: uc002oxj.3
OMIM: 613176
UniProtKB: Q9H0W8

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Bicuspid aortic valve

Extra Cardiac Phenotype

Neurodevelopmental delay

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice homozygous for a severe hypomorphic allele exhibit 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 SMG9: BED file

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Selected References

  1. Shaheen, R., Anazi, S., Ben-Omran, T., Seidahmed, M. Z., Caddle, L. B., Palmer, K., … Alkuraya, F. S. (2016). Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. The American Journal of Human Genetics, 98(4), 643–652. DOI:10.1016/j.ajhg.2016.02.010 PMID:27018474
  2. Lecoquierre, F., Bonnevalle, A., Chadie, A., Gayet, C., Dumant‐Forest, C., Renaux‐Petel, M., … Nicolas, G. (2019). Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder. American Journal of Medical Genetics Part A, 179(11), 2257–2262. DOI:10.1002/ajmg.a.61317