DNAH5 dynein axonemal heavy chain 5

Gene info

Synonyms

Dnahc5, HL1, PCD, CILD3, KTGNR

Previous symbol

None

External ID

HGNC: 2950
Entrez Gene: 1767
Ensembl: ENSG00000039139
UCSC: uc003jfd.4
OMIM: 603335
UniProtKB: Q8TE73

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Atrioventricular septal defect
  • Transposition of the great arteries

Extra Cardiac Phenotype

Heterotaxy, Ciliary dyskinesia

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice homozygous for the null allele has CHD

MGI ID

Variant info

Clinvar

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 DNAH5: BED file

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Selected References

  1. Bolkier, 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, jmedgenet–2021–107775. https://doi.org/10.1136/jmedgenet-2021-107775 DOI:10.1136/jmedgenet-2021-107775 PMID:34215651
  2. Nöthe-Menchen, 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., … Jung, 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, 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