BCOR BCL6 corepressor

Gene info

Synonyms

FLJ20285, KIAA1575

Previous symbol

None

External ID

HGNC: 20893
Entrez Gene: 54880
Ensembl: ENSG00000183337
UCSC: uc004dep.5
OMIM: 300485
UniProtKB: Q6W2J9

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Persistent ductus arteriosus
  • Tricuspid valve insufficiency
  • Pentalogy of fallot
  • Aortic valve stenosis
  • Double outlet right ventricle
  • Dextrocardia
  • Pulmonary valve stenosis
  • Floppy mitral valve

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: hemizygous male mice have CHD (heart looping defects)

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 BCOR: BED file

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Selected References

  1. Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., … Biesecker, L. G. (2004). Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nature Genetics, 36(4), 411–416. DOI:10.1038/ng1321 PMID:15004558
  2. Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., … Black, G. (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies and cardiac laterality defects. European Journal of Human Genetics, 17(10), 1325–1335. DOI:10.1038/ejhg.2009.52 PMID:19367324