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
Disease
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.
- 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 SMG9: BED file
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Selected References
- 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
- 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