KDM2B lysine demethylase 2B
PCCX2, CXXC2, Fbl10, JHDM1B
- Atrial septal defect
- Ventricular septal defect
Extra Cardiac Phenotype
Developmental delay and/or intellectual disability, autism, attention deficit disorder/attention deficit hyperactivity disorder, congenital organ anomalies mainly of the heart, eyes, and urogenital system, and subtle facial dysmorphism
MGI: Homozygous knockout mice have abnormal heart morphology
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
No variant passing our criteria was found for KDM2B.
- van Jaarsveld, R. H., Reilly, J., Cornips, M.-C., Hadders, M. A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S. A., van Binsbergen, E., van den Boogaard, M.-J., Brischoux-Boucher, E., Caylor, R. C., Ciolfi, A., van Essen, T. A. J., Fontana, P., Hopman, S., Iascone, M., Javier, M. M., Kamsteeg, E.-J., … Oegema, R. (2023). Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. Genetics in Medicine, 25(1), 49–62. https://doi.org/10.1016/j.gim.2022.09.006 DOI:10.1016/j.gim.2022.09.006 PMID:36322151