MED13L mediator complex subunit 13 like

Gene info

Synonyms

KIAA1025, TRAP240L

Previous symbol

THRAP2

External ID

HGNC: 22962
Entrez Gene: 23389
Ensembl: ENSG00000123066
UCSC: uc001tvw.4
OMIM: 608771
UniProtKB: Q71F56

Disease info

CHD Phenotype

  • Transposition of the great arteries
  • Patent foramen ovale
  • Ventricular septal defect
  • Tetralogy of fallot

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

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 MED13L: BED file

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Selected References

  1. Muncke, N., Jung, C., Rüdiger, H., Ulmer, H., Roeth, R., Hubert, A., … Rappold, G. (2003). Missense Mutations and Gene Interruption in PROSIT240 , a Novel TRAP240 -Like Gene, in Patients With Congenital Heart Defect (Transposition of the Great Arteries) . Circulation, 108(23), 2843–2850. DOI:10.1161/01.CIR.0000103684.77636.CD PMID:14638541
  2. Van Haelst, M. M., Monroe, G. R., Duran, K., van Binsbergen, E., Breur, J. M., Giltay, J. C., & van Haaften, G. (2014). Further confirmation of the MED13L haploinsufficiency syndrome. European Journal of Human Genetics, 23(1), 135–138. DOI:10.1038/ejhg.2014.69 PMID:24781760
  3. Asadollahi, R., Oneda, B., Sheth, F., Azzarello-Burri, S., Baldinger, R., Joset, P., … Rauch, A. (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21(10), 1100–1104. DOI:10.1038/ejhg.2013.17 PMID:23403903
  4. Cafiero, C., Marangi, G., Orteschi, D., Ali, M., Asaro, A., Ponzi, E., … Zollino, M. (2015). Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. European Journal of Human Genetics, 23(11), 1499–1504. DOI:10.1038/ejhg.2015.19 PMID:25712080