KDM6A lysine demethylase 6A

Gene info

Synonyms

None

Previous symbol

UTX

External ID

HGNC: 12637
Entrez Gene: 7403
Ensembl: ENSG00000147050
UCSC: uc004dge.5
OMIM: 300128
UniProtKB: O15550

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Pulmonary stenosis
  • Hypoplastic right ventricle
  • Ventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null and male mice with null allele have CHD

MGI ID

Variant info

Clinvar

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 KDM6A: BED file

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Selected References

  1. Miyake, N., Mizuno, S., Okamoto, N., Ohashi, H., Shiina, M., Ogata, K., … Matsumoto, N. (2012). KDM6A Point Mutations Cause Kabuki Syndrome. Human Mutation, 34(1), 108–110. DOI:10.1002/humu.22229 PMID:23076834
  2. Lederer, D., Shears, D., Benoit, V., Verellen-Dumoulin, C., & Maystadt, I. (2014). A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation inKDM6A. American Journal of Medical Genetics Part A, 164(5), 1289–1292. DOI:10.1002/ajmg.a.36442 PMID:24664873
  3. Miyake, N., Koshimizu, E., Okamoto, N., Mizuno, S., Ogata, T., Nagai, T., … Niikawa, N. (2013). MLL2 and KDM6A mutations in patients with Kabuki syndrome. American Journal of Medical Genetics Part A, 161(9), 2234–2243. DOI:10.1002/ajmg.a.36072 PMID:23913813