DNAH11 dynein axonemal heavy chain 11

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 DNAH11: BED file

Selected References

1. Liu, Chen, W., Zhan, Y., Li, S., Ma, X., Ma, D., Sheng, W., & Huang, G. (2019). DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome. Scientific Reports, 9(1). https://doi.org/10.1038/s41598-019-43109-6 DOI:10.1038/s41598-019-43109-6 PMID:31040315
2. Fu, Li, R., Li, Y., Nie, Z.-Q., Lei, T., Wang, D., Yang, X., Han, J., Pan, M., Zhen, L., Ou, Y., Li, J., Li, F.-T., Jing, X., Li, D., & Liao, C. (2018). Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. Ultrasound in Obstetrics & Gynecology, 51(4), 493–502. Portico. https://doi.org/10.1002/uog.18915 DOI:10.1002/uog.18915
3. Watkins, Hernandez, E. J., Wesolowski, S., Bisgrove, B. W., Sunderland, R. T., Lin, E., Lemmon, G., Demarest, B. L., Miller, T. A., Bernstein, D., Brueckner, M., Chung, W. K., Gelb, B. D., Goldmuntz, E., Newburger, J. W., Seidman, C. E., Shen, Y., Yost, H. J., Yandell, M., & Tristani-Firouzi, M. (2019). De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature Communications, 10(1). https://doi.org/10.1038/s41467-019-12582-y DOI:10.1038/s41467-019-12582-y PMID:31624253