HDAC8 histone deacetylase 8

Gene info

Disease info

Animal model

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 HDAC8: BED file

Selected References

1. Deardorff, M. A., Bando, M., Nakato, R., Watrin, E., Itoh, T., Minamino, M., … Shirahige, K. (2012). HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature, 489(7415), 313–317. DOI:10.1038/nature11316
2. Harakalova, M., van den Boogaard, M.-J., Sinke, R., van Lieshout, S., van Tuil, M. C., Duran, K., … Ploos van Amstel, H. K. (2012). X-exome sequencing identifies aHDAC8variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. Journal of Medical Genetics, 49(8), 539–543. DOI:10.1136/jmedgenet-2012-100921
3. Saikusa, T., Hara, M., Iwama, K., Yuge, K., Ohba, C., Okada, J., … Matsuishi, T. (2018). De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies. Brain and Development, 40(5), 406–409. DOI:10.1016/j.braindev.2017.12.013
4. Kaiser, F. J., Ansari, M., Braunholz, D., Concepción Gil-Rodríguez, M., Decroos, C., Wilde, J. J., … Amor, D. J. (2014). Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Human Molecular Genetics, 23(11), 2888–2900. DOI:10.1093/hmg/ddu002 PMID:24403048