DNAH11 dynein axonemal heavy chain 11

Gene info

Synonyms

Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL

Previous symbol

None

External ID

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

Disease info

Disease

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

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mouse homozygous for targeted mutations has CHD

MGI ID

1100864

Variant info

Clinvar

DNAH11

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