KDM2B lysine demethylase 2B

Gene info

Synonyms

PCCX2, CXXC2, Fbl10, JHDM1B

Previous symbol

FBXL10

External ID

HGNC: 13610
Entrez Gene: 84678
Ensembl: ENSG00000089094
UCSC: uc058uhq.1
OMIM: 609078
UniProtKB: Q8NHM5

Disease info

Disease

None

CHD Phenotype

  • 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

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous knockout mice have abnormal heart morphology

MGI ID

1354737

Variant info

Clinvar

KDM2B

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

No variant passing our criteria was found for KDM2B.

Selected References

  1. 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