Ciliary Dyskinesia

Gene: DNAH8

Red List (low evidence)

DISPUTED classification by ClinGen Motile Ciliopathies GCEP against PCD phenotype on 23/06/2022 - https://search.clinicalgenome.org/CCID:004671

"DNAH8 is not expressed in the lung which is the relevant organ to the disease (PCD)."

Created: 6 May 2024, 12:20 a.m. | Last Modified: 6 May 2024, 12:20 a.m.

Panel Version: 1.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
primary ciliary dyskinesia (MONDO:0016575)

Publications

• https://search.clinicalgenome.org/CCID:004671

I don't know

PMID: 31178125 - found DNAH8 protein co-localizes with sperm axenome, suggesting this is why patient phenotypes are exclusively sperm defects, rather than other PCD symptoms. No patients reported

PMID: 24307375 - 1 homozygous patient w/ primary ciliary dyskinesia

Multiple additional patients in ClinVar/Decipher with PTCs, reported to have PCD but no additional information given

Summary: 1 patient with PCD, some association of protein to cilia function

Created: 25 May 2020, 3 a.m. | Last Modified: 25 May 2020, 3 a.m.

Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Asthenozoospermia; primary ciliary dyskinesia

Publications

• PMID: 31178125
• 24307375