MED12 mediator complex subunit 12

Gene info

Disease info

Animal model

Variant info

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

Selected References

1. Risheg, H., Graham, J. M., Clark, R. D., Rogers, R. C., Opitz, J. M., Moeschler, J. B., Peiffer, A. P., May, M., Joseph, S. M., Jones, J. R., Stevenson, R. E., Schwartz, C. E., & Friez, M. J. (2007). A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nature Genetics, 39(4), 451–453. https://doi.org/10.1038/ng1992 DOI:10.1038/ng1992 PMID:17334363
2. Graham, J. M., Visootsak, J., Dykens, E., Huddleston, L., Clark, R. D., Jones, K. L., Moeschler, J. B., Opitz, J. M., Morford, J., Simensen, R., Rogers, R. C., Schwartz, C. E., Friez, M. J., & Stevenson, R. E. (2008). Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. American Journal of Medical Genetics Part A, 146A(23), 3011–3017. Portico. https://doi.org/10.1002/ajmg.a.32553 DOI:10.1002/ajmg.a.32553 PMID:18973276
3. Somashekar, P., Shukla, A., Siddaiah, S., Bhat, V., Girisha, K., Rao, P., & Patil, S. (2017). Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation. Journal of Pediatric Genetics, 06(03), 198–204. https://doi.org/10.1055/s-0037-1602386 DOI:10.1055/s-0037-1602386 PMID:28794916