ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2

Gene info

Synonyms

EFO2

Previous symbol

RBS

External ID

HGNC: 27230
Entrez Gene: 157570
Ensembl: ENSG00000171320
UCSC: uc003xgg.4
OMIM: 609353
UniProtKB: Q56NI9

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Pulmonic stenosis

Extra Cardiac Phenotype

Facial dysmorphism, Neurodevelopmental delay, Microcephaly, Failure to thrive, limb and digit deformities, phocomelia, Cryptorchidism

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 ESCO2: BED file

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Selected References

  1. Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., … Jabs, E. W. (2009). Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. Journal of Medical Genetics, 47(1), 30–37. DOI:10.1136/jmg.2009.068395 PMID:19574259
  2. Da Costa Almeida, C. B., Welter, A. T., Abech, G. D., Brandão, G. R., Flores, J. A. M., Schüle, B., … Rosa, R. F. M. (2019). Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant. Journal of Pediatric Genetics, 09(01), 058–062. DOI:10.1055/s-0039-1696636 PMID:31976146