KANSL1 KAT8 regulatory NSL complex subunit 1

Gene info

Disease info

Animal model

Variant info

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

Selected References

1. Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., Chung, W. K., Dalton, M., Dimova, P. S., Mattina, T., Prescott, K., Zhang, H. Z., … 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. https://doi.org/10.1038/ejhg.2015.178 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). https://doi.org/10.1186/s12881-015-0211-0 DOI:10.1186/s12881-015-0211-0 PMID:26293599
3. Millan, F., Cho, M. T., Retterer, K., Monaghan, K. G., Bai, R., Vitazka, P., Everman, D. B., Smith, B., Angle, B., Roberts, V., Immken, L., Nagakura, H., DiFazio, M., Sherr, E., Haverfield, E., Friedman, B., Telegrafi, A., Juusola, J., Chung, W. K., & 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. Portico. https://doi.org/10.1002/ajmg.a.37670 DOI:10.1002/ajmg.a.37670 PMID:27133397