DNAH5 dynein axonemal heavy chain 5

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

Selected References

1. Bolkier, Y., Barel, O., Marek-Yagel, D., Atias-Varon, D., Kagan, M., Vardi, A., Mishali, D., Katz, U., Salem, Y., Tirosh-Wagner, T., Jacobson, J. M., Raas-Rothschild, A., Chorin, O., Eliyahu, A., Sarouf, Y., Shlomovitz, O., Veber, A., Shalva, N., Javasky, E., … Pode-Shakked, B. (2021). Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects. Journal of Medical Genetics, 59(7), 691–696. https://doi.org/10.1136/jmedgenet-2021-107775 DOI:10.1136/jmedgenet-2021-107775 PMID:34215651
2. Nöthe-Menchen, T., Wallmeier, J., Pennekamp, P., Höben, I. M., Olbrich, H., Loges, N. T., Raidt, J., Dougherty, G. W., Hjeij, R., Dworniczak, B., Omran, H., Amirav, I., Biebach, L., Fabricius, D., Griese, M., Große-Onnebrink, J., Häffner, K., Hector, A., … Zariwala, M. A. (2019). Randomization of Left-Right Asymmetry and Congenital Heart Defects. Circulation: Genomic and Precision Medicine, 12(11). https://doi.org/10.1161/circgen.119.002686 DOI:10.1161/CIRCGEN.119.002686 PMID:31638833
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