HDAC8 histone deacetylase 8
Gene info
Synonyms
RPD3, KDAC8
Previous symbol
HDACL1, WTS, MRXS6
External ID
HGNC: 13315
Entrez Gene: 55869
Ensembl: ENSG00000147099
UCSC: uc004eau.3
OMIM:
300269
UniProtKB:
Q9BY41
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
Extra Cardiac Phenotype
Facial dysmorphism, neurodevelopmental delay, microcephaly, Hearing loss, failure to thrive, Hirsutism, Truncal obesity, Gynaecomastia, Hypogonadism, digit deformities, GI anomalies
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
No cardiovascular defect in mice
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for HDAC8: BED file
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Selected References
- 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
- 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
- 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
- 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