AFF4 AF4/FMR2 family member 4

Gene info



Previous symbol


External ID

HGNC: 17869
Entrez Gene: 27125
Ensembl: ENSG00000072364
UCSC: uc003kyd.4
OMIM: 604417
UniProtKB: Q9UHB7

Disease info


CHD Phenotype

  • Ventricular septal defect
  • Patent ductus arteriosus
  • Patent foramen ovale

Extra Cardiac Phenotype

Facial dysmorphism, Microcephaly, Developmental delay, Hearing loss, Failure to thrive, Laryngomalacia, Gastrointestinal dysfunction, genito-urinary deformities, Kyphoscoliosis, Brachydactyly

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded


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

Download annotation file for AFF4: BED file

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Selected References

  1. Izumi, K., Nakato, R., Zhang, Z., Edmondson, A. C., Noon, S., Dulik, M. C., Rajagopalan, R., Venditti, C. P., Gripp, K., Samanich, J., Zackai, E. H., Deardorff, M. A., Clark, D., Allen, J. L., Dorsett, D., Misulovin, Z., Komata, M., Bando, M., Kaur, M., … Krantz, I. D. (2015). Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nature Genetics, 47(4), 338–344. DOI:10.1038/ng.3229 PMID:25730767
  2. Raible, S. E., Mehta, D., Bettale, C., Fiordaliso, S., Kaur, M., Medne, L., Rio, M., Haan, E., White, S. M., Cusmano‐Ozog, K., Nishi, E., Guo, Y., Wu, H., Shi, X., Zhao, Q., Zhang, X., Lei, Q., Lu, A., He, X., … Izumi, K. (2019). Clinical and molecular spectrum of CHOPS syndrome. American Journal of Medical Genetics Part A. Portico. DOI:10.1002/ajmg.a.61174 PMID:31058441