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.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for DNAH5: BED file
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Selected References
- 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