KANSL1 KAT8 regulatory NSL complex subunit 1

Gene info

Synonyms

DKFZP727C091, MSL1v1, CENP-36, NSL1

Previous symbol

KIAA1267

External ID

HGNC: 24565
Entrez Gene: 284058
Ensembl: ENSG00000120071
UCSC: uc060gju.1
OMIM: 612452
UniProtKB: Q7Z3B3

Disease info

CHD Phenotype

  • Atrial septal defect
  • Bicuspid aortic valve
  • Patent foramen ovale
  • Pulmonary stenosis
  • Ventricular septal defect
  • Mitral insufficiency
  • Anomalous right subclavian artery

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

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 KANSL1: BED file

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Selected References

  1. Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., … de Vries, B. B. (2015). The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics, 24(5), 652–659. DOI:10.1038/ejhg.2015.178 PMID:26306646
  2. Moreno-Igoa, M., Hernández-Charro, B., Bengoa-Alonso, A., Pérez-Juana-del-Casal, A., Romero-Ibarra, C., Nieva-Echebarria, B., & Ramos-Arroyo, M. A. (2015). KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome. BMC Medical Genetics, 16(1). DOI:10.1186/s12881-015-0211-0 PMID:26293599
  3. Millan, F., Cho, M. T., Retterer, K., Monaghan, K. G., Bai, R., Vitazka, P., … Bale, S. (2016). Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder. American Journal of Medical Genetics Part A, 170(7), 1791–1798. DOI:10.1002/ajmg.a.37670 PMID:27133397