ARID1B AT-rich interaction domain 1B

Gene info


KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5

Previous symbol


External ID

HGNC: 18040
Entrez Gene: 57492
Ensembl: ENSG00000049618
UCSC: uc003qqp.4
OMIM: 614556
UniProtKB: Q8NFD5

Disease info

CHD Phenotype

  • Atrial septal defect
  • Patent foramen ovale
  • Atrioventricular septal defect

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


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 ARID1B: BED file

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Selected References

  1. Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., Alanay, Y., Kayserili, H., Klein-Hitpass, L., Böhringer, S., Wollstein, A., Albrecht, B., Boduroglu, K., Caliebe, A., Chrzanowska, K., … Wollnik, B. (2013). A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22(25), 5121–5135. DOI:10.1093/hmg/ddt366 PMID:23906836
  2. Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., Zweier, M., Göhring, I., Zink, A. M., Rappold, G., Schröck, E., Wieczorek, D., Riess, O., Engels, H., Rauch, A., & Reis, A. (2012). Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability. The American Journal of Human Genetics, 90(3), 565–572. DOI:10.1016/j.ajhg.2012.02.007 PMID:22405089
  3. Nagamani, S. C. S., Erez, A., Eng, C., Ou, Z., Chinault, C., Workman, L., Coldwell, J., Stankiewicz, P., Patel, A., Lupski, J. R., & Cheung, S. W. (2008). Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. European Journal of Human Genetics, 17(5), 573–581. DOI:10.1038/ejhg.2008.220 PMID:19034313
  4. Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., Vijfhuizen, L., van der Wielen, M. J. R., Vollebregt, M. J. E., Breuning, M. H., Kriek, M., van Haeringen, A., den Dunnen, J. T., Hoischen, A., … Clayton-Smith, J. (2013). Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients. Human Mutation, 34(11), 1519–1528. Portico. DOI:10.1002/humu.22394 PMID:23929686