DNAH11 dynein axonemal heavy chain 11

Gene info



Previous symbol


External ID

HGNC: 2942
Entrez Gene: 8701
Ensembl: ENSG00000105877
UCSC: uc031swp.2
OMIM: 603339
UniProtKB: Q96DT5

Disease info

CHD Phenotype

  • Atrial septal defect
  • Atrioventricular septal defect
  • Pulmonary atresia
  • Pulmonic stenosis
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

Heterotaxy, Ciliary dyskinesia

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mouse homozygous for targeted mutations has CHD


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

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Selected References

  1. Liu, S., 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, F., 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 PMID:28976722
  3. Watkins, W. S., 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