MED12 mediator complex subunit 12

Gene info

Synonyms

CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS

Previous symbol

TNRC11, FGS1

External ID

HGNC: 11957
Entrez Gene: 9968
Ensembl: ENSG00000184634
UCSC: uc004dyy.4
OMIM: 300188
UniProtKB: Q93074

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Pulmonic stenosis

Extra Cardiac Phenotype

Dysmorphic facies, Neurodevelopmental delay

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Male mouse hemizygous for hypomorphic allele has 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 MED12: BED file

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Selected References

  1. Risheg, H., Graham, J. M., Clark, R. D., Rogers, R. C., Opitz, J. M., Moeschler, J. B., … Friez, M. J. (2007). A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nature Genetics, 39(4), 451–453. DOI:10.1038/ng1992
  2. Graham, J. M., Visootsak, J., Dykens, E., Huddleston, L., Clark, R. D., Jones, K. L., … Stevenson, R. E. (2008). Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in theMED12gene. American Journal of Medical Genetics Part A, 146A(23), 3011–3017. 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. DOI:10.1055/s-0037-1602386 PMID:28794916